2017

2016

Tier 1a – 0 Publications
Tier 1b – 11 Publications
Tier 2 – 16 Publications
Tier 3 – 45 Publications
Tier 4 – 28 Publications
Tier N/A – 5 Publications
Total – 105 Publications
Tier 1a – 4 Publications
Tier 1b – 11 Publications
Tier 2 – 17 Publications
Tier 3 – 26 Publications
Tier 4 – 29 Publications
Tier N/A – 7 Publications
Total – 94 Publications

2017 Tier 1b Publications

  1. Frazier AE, Holt IJ, Spinazzola A, Thorburn DR. Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance. Brain. 2017 Nov 1;140(11):e67. doi: 10.1093/brain/awx240. PubMed PMID: 29053800. Tier 1b, Impact Factor 10.292
  2. Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M. Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7. PubMed PMID: 28687708. Tier 1b, Impact Factor 19.309
  3. Tan TY, Dillon OJ, Stark Z, Schofield D, Alam K, Shrestha R, Chong B, Phelan D, Brett GR, Creed E, Jarmolowicz A, Yap P, Walsh M, Downie L, Amor DJ, Savarirayan R, McGillivray G, Yeung A, Peters H, Robertson SJ, Robinson AJ, Macciocca I, Sadedin S, Bell K, Oshlack A, Georgeson P, Thorne N, Gaff C, White SM. Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. JAMA Pediatr. 2017 Sep 1;171(9):855-862. doi: 10.1001/jamapediatrics.2017.1755. PubMed PMID: 28759686; PubMed Central PMCID: PMC5710405. Tier 1b, Impact Factor 10.251
  4. Pertile MD, Halks-Miller M, Flowers N, Barbacioru C, Kinnings SL, Vavrek D, Seltzer WK, Bianchi DW. Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease. Sci Transl Med. 2017 Aug 30;9(405). pii: eaan1240. doi: 10.1126/scitranslmed.aan1240. PubMed PMID: 28855395. Tier 1b, Impact Factor 16.796
  5. Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. Brain. 2017 Aug 1;140(8):2093-2103. doi: 10.1093/brain/awx138. Tier 1b, Impact Factor 10.292
  6. Muggli E, Matthews H, Penington A, Claes P, O'Leary C, Forster D, Donath S, Anderson PJ, Lewis S, Nagle C, Craig JM, White SM, Elliott EJ, Halliday J. Association Between Prenatal Alcohol Exposure and Craniofacial Shape of Children at 12 Months of Age. JAMA Pediatr. 2017 Aug 1;171(8):771-780. doi: 10.1001/jamapediatrics.2017.0778. PubMed PMID: 28586842. Tier 1b, Impact Factor 10.251
  7. Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombès A, Holt IJ, Thorburn DR, Spinazzola A. ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. Brain. 2017 Jun 1;140(6):1595-1610. doi: 10.1093/brain/awx094. PubMed PMID: 28549128; PubMed Central PMCID: PMC5445257. Tier 1b, Impact Factor 10.292
  8. Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nat Genet. 2017 Apr;49(4):511-514. doi: 10.1038/ng.3794. Epub 2017 Feb 27. PubMed PMID: 28250454.
    Tier 1b, Impact Factor 27.959
  9. Narayan N, Morenos L, Phipson B, Willis SN, Brumatti G, Eggers S, Lalaoui N, Brown LM, Kosasih HJ, Bartolo RC, Zhou L, Catchpoole D, Saffery R, Oshlack A, Goodall GJ, Ekert PG. Functionally distinct roles for different miR-155 expression levels through contrasting effects on gene expression, in acute myeloid leukaemia. Leukemia. 2017 Apr;31(4):808-820. doi: 10.1038/leu.2016.279. Epub 2016 Oct 14. Tier 1b, Impact Factor 11.702
  10. Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13. PubMed PMID: 28191889; PubMed Central PMCID: PMC5374041. Tier 1b, Impact Factor 27.959
  11. Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19. PMID:27992417. Tier 1b, Impact Factor 27.959

2017 Tier 2 Publications

  1. Wali JA, Galic S, Tan CY, Gurzov EN, Frazier AE, Connor T, Ge J, Pappas EG, Stroud D, Varanasi LC, Selck C, Ryan MT, Thorburn DR, Kemp BE, Krishnamurthy B, Kay TW, McGee SL, Thomas HE. Loss of BIM increases mitochondrial oxygen consumption and lipid oxidation, reduces adiposity and improves insulin sensitivity in mice. Cell Death Differ. 2018 Jan;25(1):217-225. doi: 10.1038/cdd.2017.168. Epub 2017 Oct 20. PubMed PMID: 29053141; PubMed Central PMCID: PMC5729528. Tier 2, Impact Factor 8.339
  2. Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, Bernardini L, Bhaskar S, Callewaert B, Clayton-Smith J, Davalillo CH, Deshpande C, Devriendt K, Digilio MC, Dixit A, Edwards M, Friedman JM, Gonzalez-Meneses A, Joss S, Kerr B, Lampe AK, Langlois S, Lennon R, Loget P, Ma DYT, McGowan R, Des Medt M, O'Sullivan J, Odent S, Parker MJ, Pebrel-Richard C, Petit F, Stark Z, Stockler-Ipsiroglu S, Tinschert S, Vasudevan P, Villa O, White SM, Zahir FR; DDD Study, Woolf AS, Banka S. ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder. Am J Hum Genet. 2017 Dec 7;101(6):1021-1033. doi: 10.1016/j.ajhg.2017.11.006. PubMed PMID: 29220674. Tier 2, Impact Factor 9.025
  3. Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. Am J Hum Genet. 2017 Dec 7;101(6):985-994. doi: 10.1016/j.ajhg.2017.10.006. Epub 2017 Nov 30. PubMed PMID: 29198724. Tier 2, Impact Factor 9.025
  4. Lee E, Le T, Zhu Y, Elakis G, Turner A, Lo W, Venselaar H, Verrenkamp CA, Snow N, Mowat D, Kirk EP, Sachdev R, Smith J, Brown NJ, Wallis M, Barnett C, McKenzie F, Freckmann ML, Collins F, Chopra M, Gregersen N, Hayes I, Rajagopalan S, Tan TY, Stark Z, Savarirayan R, Yeung A, Adès L, Gattas M, Gibson K, Gabbett M, Amor DJ, Lattanzi W, Boyd S, Haan E, Gianoutsos M, Cox TC, Buckley MF, Roscioli T. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. Genet Med. 2017 Dec 7. doi: 10.1038/gim.2017.214. [Epub ahead of print] PubMed PMID: 29215649. Tier 2, Impact Factor 8.229
  5. Sylvia A Metcalfe, Martin Delatycki, Jonathan Cohen, Alison D Archibald, Jon D Emery. Fragile X population carrier screening. December 2017, Genetics in Medicine. Letter to the Editor. DOI10.1038/gim.2017.209. Tier 2, Impact Factor 8.229
  6. Metcalfe SA, Martyn M, Ames A, Anderson V, Archibald AD, Couns GDG, Carter R, Cohen J, Cotter M, GenCouns M, Dang W, Delatycki MB, Donath S, Edwards S, Educ PD, Couns GDG, Forbes R, Couns GDG, Gavrila M, MedSci M, Halliday J, Hickerton C, Hill M, Couns GDG, Jacobs L, Ultrasound PD, Petrou V, Couns GDG, Plunkett L, GenCouns M, Sheffield L, Racp F, Thornton A, Couns GDG, Younie S, Econ PDH, Emery JD. Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening. Genet Med. 2017 Dec;19(12):1346-1355. doi: 10.1038/gim.2017.67. Epub 2017 Jun 29. PubMed PMID: 28661491. Tier 2, Impact Factor 8.229
  7. Maas RR, Iwanicka-Pronicka K, Ucar SK, Alhaddad B, Al-Sayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait D, Burlina D, Christodoulou J, Chung WK, Colombo R, Darin N, FreisingerP, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Khushnooda R, Kovacs-Nagy R, Krumina Z, Hernandez EM, Mayr JA, McClean P, de Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakis K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB. Progressive deafness-dystonia due to SERAC1 mutations – a study of 67 individuals. Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110. PMID: 29205472. Tier 2, Impact Factor 9.890
  8. Ong SY, Gurrin LC, Dolling L, Dixon J, Nicoll AJ, Wolthuizen M, Wood EM, Anderson GJ, Ramm GA, Allen KJ, Olynyk JK, Crawford D, Ramm LE, Gow P, Durrant S, Powell LW, Delatycki MB. Reduction of body iron in HFE-related haemochromatosis and moderate iron overload (Mi-Iron): a multicentre, participant-blinded, randomised controlled trial. Lancet Haematol. 2017 Dec;4(12):e607-e614. doi: 10.1016/S2352-3026(17)30214-4. PubMed PMID: 29195602. Tier 2, Impact Factor 7.123
  9. Archibald AD, Smith MJ, Burgess T, Scarff KL, Elliott J, Hunt CE, Barns-Jenkins C, Holt C, Sandoval K, Siva Kumar V, Ward L, Allen EC, Collis SV, Cowie S, Francis D, Delatycki MB, Yiu EM, Massie RJ, Pertile MD, du Sart D, Bruno D, Amor DJ. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genet Med. 2017 Oct 26. doi: 10.1038/gim.2017.134. [Epub ahead of print] PubMed PMID: 29261177. Tier 2, Impact Factor 8.229
  10. Keller RB, Tran TT, Pyott SM, Pepin MG, Savarirayan R, McGillivray G, Nickerson DA, Bamshad MJ, Byers PH. Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively. Genet Med. 2017 Aug 17. doi: 10.1038/gim.2017.115. [Epub ahead of print] PubMed PMID: 28817112. Tier 2, Impact Factor 8.229
  11. Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Bodaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. Am J Hum Genet. 2017 Aug 3;101(2):239-254. doi: 10.1016/j.ajhg.2017.07.005. PubMed PMID: 28777931; PubMed Central PMCID: PMC5544391. Tier 2, Impact Factor 9.025
  12. Stark Z, Schofield D, Alam K, Wilson W, Mupfeki N, Macciocca I, Shrestha R, White SM, Gaff C. Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement. Genet Med. 2017 Aug;19(8):867-874. doi: 10.1038/gim.2016.221. Epub 2017 Jan 26. PMID:28125081. Tier 2, Impact Factor 8.229
  13. Harding IH, Corben LA, Delatycki MB, Stagnitti MR, Storey E, Egan GF, Georgiou-Karistianis N. Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study. Mov Disord. 2017 Aug;32(8):1221-1229. doi: 10.1002/mds.27023. Epub 2017 May 27. PMID: 28556242. Tier 2, Impact Factor 7.072
  14. Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen B, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Reimschisel T, Salvarinova R, Saneto R, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Rarnopolsky M, van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery P. Patient Care Guidelines for Primary Mitochondrial Disease: A Consensus Statement from the Mitochondrial Medicine Society. Genet Med 2017 July; doi: 10.1038/gim.2017.107. Tier 2, Impact Factor 8.229
  15. Milne SC, Corben LA, Georgiou-Karistianis N, Delatycki MB, Yiu EM. Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review. Neurorehabil Neural Repair. 2017 Jul;31(7):609-622. doi: 10.1177/1545968317712469. Epub 2017 Jun 9. PubMed PMID: 28595509. Tier 2, Impact Factor 4.107
  16. Bauquier J, Stent A, Gibney J, Jerrett I, White J, Tennent-Brown B, Pearce A, Pitt J. Evidence for marsh mallow (Malva parviflora) toxicosis causing myocardial disease and myopathy in four horses. Equine Vet J. 2017 May;49(3):307-313. doi: 10.1111/evj.12604. Epub 2016 Jul 28. PubMed PMID: 27341541. Tier 2, Impact Factor 2.382

2017 Tier 3 Publications

  1. Robevska G, van den Bergen JA, Ohnesorg T, Eggers S, Hanna C, Hersmus R, Thompson EM, Baxendale A, Verge CF, Lafferty AR, Marzuki NS, Santosa A, Listyasari NA, Riedl S, Warne G, Looijenga L, Faradz S, Ayers KL, Sinclair AH. Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development. Hum Mutat. 2018 Jan;39(1):124-139. doi: 10.1002/humu.23354. Epub 2017 Nov 2. PMID: 29027299. Tier 3, Impact Factor 4.601
  2. Hosking LM, Bannister EG, Cook MC, Choo S, Kumble S, Cole TS. Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea. J Clin Immunol. 2018 Jan;38(1):1-3. doi: 10.1007/s10875-017-0460-0. Epub 2017 Nov 10. PubMed PMID: 29127627. Tier 3, Impact Factor 3.253
  3. Myers KA, Nasioulas S, Boys A, McMahon JM, Slater H, Lockhart P, Sart DD, Scheffer IE. ADGRV1 is implicated in myoclonic epilepsy. Epilepsia. 2017 Dec 20. doi: 10.1111/epi.13980. [Epub ahead of print] PubMed PMID: 29266188. Tier 3, Impact Factor 5.295
  4. Dudding-Byth T, Baxter A, Holliday EG, Hackett A, O'Donnell S, White SM, Attia J, Brunner H, de Vries B, Koolen D, Kleefstra T, Ratwatte S, Riveros C, Brain S, Lovell BC. Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability. BMC Biotechnol. 2017 Dec 19;17(1):90. doi: 10.1186/s12896-017-0410-1. PMID:29258477. Tier 3, Impact Factor 2.41
  5. Gold WA, Krishnaraj R, Ellaway C, Christodoulou J. Rett syndrome: A genetic update and clinical review focusing on comorbidities. ACS Chem Neurosci. 2017. Dec 15. doi: 10.1021/acschemneuro.7b00346. [Epub ahead of print] PMID: 29185709. Tier 3, Impact Factor 3.883
  6. Frazier AE, Thorburn DR and Compton AG (2018) Mitochondrial energy generation disorders: the pathways from genotypes to phenotypes. J Biol Chem (accepted, Dec. 12, 2017) PMID: 29233888 DOI: 10.1074/jbc.R117.809194. Tier 3, Impact Factor 4.125
  7. Morgan AT, Haaften LV, van Hulst K, Edley C, Mei C, Tan TY, Amor D, Fisher SE, Koolen DA. Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia. Eur J Hum Genet. 2017 Dec 11. doi: 10.1038/s41431-017-0035-9. [Epub ahead of print] PubMed PMID: 29225339. Tier 3, Impact Factor 4.287
  8. Manikkam SA, Chetcuti K, Howell KB, Savarirayan R, Fink AM, Mandelstam SA. Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias. AJNR Am J Neuroradiol. 2017 Nov 23. doi: 10.3174/ajnr.A5468. [Epub ahead of print] PubMed PMID: 29170271. Tier 3, Impact Factor 3.55
  9. Stutterd C, Diakumis P, Bahlo M, Fanjul Fernandez M, Leventer RJ, Delatycki M, Amor DJ, Chow CW, Stephenson S, Meisler MH, Mclean C and Lockhart PJ (2017), Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14. Ann Clin Transl Neurol. 2017 Nov 7;4(12):859-864. doi: 10.1002/acn3.487. eCollection 2017 Dec. PMID: 29296614. Tier 3, Impact Factor 3.901
  10. Loetsch C, Warren J, Laskowski A, Vazquez-Lombardi R, Jandl C, Langley DB, Christ D, Thorburn DR, Ryugo DK, Sprent J, Batten M and King C (2017) Cytosolic Recognition of RNA Drives the Immune Response to Heterologous Erythrocytes. Cell Rep. 2017 Nov 7;21(6):1624-1638. doi: 10.1016/j.celrep.2017.10.044. PMID: 29117566. Tier 3, Impact Factor 8.282
  11. Knight KW, Stephenson SEM, West S, Delatycki MB, Jones CA, Little MH, Patton GC, Sawyer SM, Skinner SR, Telfer MM, Wake M, North KN, Oberklaid F. The kids are OK: it is discrimination not same-sex parents that harms children. Med J Aust. 2017 Nov 6;207(9):374-375. No abstract available. PMID: 29092695. Tier 3, Impact Factor 2.872
  12. Stals KL, Wakeling M, Baptista J, Caswell R, Parrish A, Rankin J, Tysoe C, Jones G, Gunning AC, Lango Allen H, Bradley L, Brady AF, Carley H, Carmichael J, Castle B, Cilliers D, Cox H, Deshpande C, Dixit A, Eason J, Elmslie F, Fry AE, Fryer A, Holder M, Homfray T, Kivuva E, McKay V, Newbury-Ecob R, Parker M, Savarirayan R, Searle C, Shannon N, Shears D, Smithson S, Thomas E, Turnpenny PD, Varghese V, Vasudevan P, Wakeling E, Baple EL, Ellard S. Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. Prenat Diagn. 2017 Nov 2. doi: 10.1002/pd.5175. [Epub ahead of print] PubMed PMID: 29096039. Tier 3, Impact Factor 2.523
  13. Mangan, M. S., Melo-Silva, C. R., Luu, J., Bird, C. H., Koskinen, A., Rizzitelli, A., Prakash, M., Scarff, K. L., Mullbacher, A., Regner, M., & Bird, P. I. (2017). A pro-survival role for the intracellular granzyme B inhibitor Serpinb9 in natural killer cells during poxvirus infection. Immunol Cell Biol. 2017 Nov;95(10):884-894. doi: 10.1038/icb.2017.59. Epub 2017 Aug 15. PMID: 28722018. Tier 3, Impact Factor 4.557
  14. Armangue T, Orsini JJ, Takanohashi A, Gavazzi F, Conant A, Ulrick N, Morrissey MA, Nahhas N, Helman G, Gordish-Dressman H, Orcesi S, Tonduti D, Stutterd C, van Haren K, Toro C, Iglesias AD, van der Knaap MS, Goldbach Mansky R, Moser AB, Jones RO, Vanderver A. Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots. Mol Genet Metab. 2017 Nov;122(3):134-139. doi: 10.1016/j.ymgme.2017.07.006. Epub 2017 Jul 20. PubMed PMID: 28739201; PubMed Central PMCID: PMC5722655. Tier 3, Impact Factor 3.769
  15. Stark Z, Dashnow H, Lunke S, Tan TY, Yeung A, Sadedin S, Thorne N, Macciocca I, Gaff C; Melbourne Genomics Health Alliance, Oshlack A, White SM, James PA. A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data. Eur J Hum Genet. 2017 Nov;25(11):1268-1272. doi: 10.1038/ejhg.2017.123. Epub 2017 Aug 23. PMID:28832562. Tier 3, Impact Factor 4.287
  16. Nafisinia M, Sobreira N, Riley LG, Gold WA, Uhlenberg B, Boehm C, Prelog K, Ouvrier RA, Christodoulou J. Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus–Merzbacher disease. Eur J Hum Genet. 2017 Oct;25(10):1134-1141. doi: 10.1038/ejhg.2017.119. Epub 2017 Jul 26. PMID: 28905880. Tier 3, Impact Factor 4.287
  17. Keage MJ, Delatycki MB, Corben LA, Vogel AP. Dysphagia in Friedreich ataxia. Dysphagia. 2017 Oct;32(5):626-635. doi: 10.1007/s00455-017-9804-4. Epub 2017 May 4. PMID: 28474131. Tier 3, Impact Factor 2.077
  18. Meyers-Wallen VN, Boyko AR, Danko CG, Grenier JK, Mezey JG, Hayward JJ, Shannon LM, Gao C, Shafquat A, Rice EJ, Pujar S, Eggers S, Ohnesorg T, Sinclair AH. XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris). PLoS One. 2017 Oct 20;12(10):e0186331. doi: 10.1371/journal.pone.0186331. eCollection 2017. PMID: 29053721. PMCID: PMC5650465. Tier 3, Impact Factor 2.806
  19. Schönewolf-Greulich B, Bisgaard AM, Møller RS, Dunø M, Brøndum-Nielsen K, Kaur S, Van Bergen NJ, Lunke S, Eggers S, Jespersgaard C, Christodoulou J, Tümer Z. Clinician’s guide to genes associated with Rett-like phenotypes – Investigation of a Danish cohort and review of the literature. Clin Genet. 2017 Oct 10. doi: 10.1111/cge.13153. [Epub ahead of print] PMID: 29023665. Tier 3, Impact Factor 3.326
  20. Halliday JL, Muggli E, Lewis S, Elliott EJ, Amor DJ, O’Leary C, Donath S, Forster D, Nagle C, Craig JM, Anderson PJ (2017) Alcohol consumption in a general antenatal population and child neurodevelopment at 2 years. J Epidemiol Community Health. 2017 Oct;71(10):990-998. doi: 10.1136/jech-2017-209165. Epub 2017 Aug 24. PMID: 28839077. Tier 3, Impact Factor 3.608
  21. Tan NBL, Tamblyn S, Hinds R. Primary Intestinal Lymphangiectasia as a First Manifestation of Tuberous Sclerosis Complex. J Pediatr Gastroenterol Nutr. 2017 Oct;65(4):e96. doi: 10.1097/MPG.0000000000001660. PubMed PMID: 28614114. Tier 3, Impact Factor 2.799
  22. Milne SC, Corben LA, Roberts M, Murphy A, Tai G, Georgiou-Karistianis N, Yiu EM, Delatycki MB. Can rehabilitation improve the health and well-being in Friedreich's ataxia: a randomized controlled trial? Clin Rehabil. 2017 Oct 1:269215517736903. doi: 10.1177/0269215517736903. [Epub ahead of print] PubMed PMID: 29072092. Tier 3, Impact Factor 2.823
  23. Balasubramaniam S, Riley LG, Bratkovic D, Ketteridge D, Manton N, Cowley MJ, Gayevskiy V, Roscioli T, Mohamed M, Gardeitchik T, Morava E, Christodoulou J. Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. J Inherit Metab Dis. 2017 Sep;40(5):745-747. doi: 10.1007/s10545-017-0036-4. Epub 2017 Apr 13. PubMed PMID: 28409271. Tier 3, Impact Factor 3.97
  24. Krishnaraj R, Ho G, Christodoulou J. RettBASE: Rett Syndrome Database Update. Hum Mutat. 2017 Aug;38(8):922-931. doi: 10.1002/humu.23263. Epub 2017 Jun 9. PMID: 28544139. DOI: 10.1002/humu.23263. Tier 3, Impact Factor 4.601
  25. Tai G, Yiu EM, Delatycki MB, Corben LA. How does performance of the Friedreich Ataxia Functional Composite compare to rating scales? J Neurol. 2017 Aug;264(8):1768-1776. doi: 10.1007/s00415-017-8566-0. Epub 2017 Jul 10. PubMed PMID: 28695363. Tier 3, Impact Factor 3.389
  26. Kang Y, Stroud DA, Baker MJ, De Souza DP, Frazier AE, Liem M, Tull D, Mathivanan S, McConville MJ, Thorburn DR, Ryan MT, Stojanovski D. Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex. Mol Cell. 2017 Aug 3;67(3):457-470.e5. doi: 10.1016/j.molcel.2017.06.014. Epub 2017 Jul 14. PubMed PMID: 28712726. Tier 3, Impact Factor 3.084
  27. Corben LA, Klopper F, Stagnitti M, Georgiou-Karistianis N, Bradshaw JL, Rance G, Delatycki MB. Measuring Inhibition and Cognitive Flexibility in Friedreich Ataxia. Cerebellum. 2017 Aug;16(4):757-763. doi: 10.1007/s12311-017-0848-7. PubMed PMID: 28229372. Tier 3, Impact Factor 3.234
  28. McCormick A, Farmer J, Perlman S, Delatycki MB, Wilmot G, Matthews K, Yoon G, Hoyle C, Subramony SH, Zesiwiecz T, Lynch DR, McCormack SE. Prevalence and Impact of Diabetes Mellitus in the Friedreich Ataxia Clinical Outcome Measure Study. Ann Clin Transl Neurol. 2017 Jul 26;4(9):622-631. doi: 10.1002/acn3.439. eCollection 2017 Sep. PMID: 28904984. Tier 3, Impact Factor 3.901
  29. Beecroft SJ, McLean CA, Delatycki MB, Koshy K, Yiu E, Haliloglu G, Orhan D, Lamont PJ, Davis MR, Laing NG, Ravenscroft G. Expanding the phenotypic spectrum associated with mutations of DYNC1H1. Neuromuscul Disord. 2017 Jul;27(7):607-615. doi: 10.1016/j.nmd.2017.04.011. Epub 2017 May 5. PubMed PMID: 28554554. Tier 3, Impact Factor 2.969
  30. Tai G, Corben LA, Yiu EM, Delatycki MB. A longitudinal study of the SF-36 version 2 in Friedreich ataxia. Acta Neurol Scand. 2017 Jul;136(1):41-46. doi: 10.1111/ane.12693. Epub 2016 Sep 28. PMID: 27679455. Tier 3, Impact Factor 3.087
  31. Nafisinia M, Riley LG, Gold WA, Bhattacharya K, Broderick CR, Thorburn DR, Simons C, Christodoulou J. Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction. PLoS One. 2017 Jun 8;12(6):e0178125. doi: 10.1371/journal.pone.0178125. eCollection 2017. PubMed PMID: 28594869; PubMed Central PMCID: PMC5464557. Tier 3, Impact Factor 2.806
  32. Altmüller F, Lissewski C, Bertola D, Flex E, Stark Z, Spranger S, Baynam G, Buscarilli M, Dyack S, Gillis J, Yntema HG, Pantaleoni F, van Loon RL, MacKay S, Mina K, Schanze I, Tan TY, Walsh M, White SM, Niewisch MR, García-Miñaúr S, Plaza D, Ahmadian MR, Cavé H, Tartaglia M, Zenker M. Genotype and phenotype spectrum of NRAS germline variants. Eur J Hum Genet. 2017 Jun;25(7):823-831. doi: 10.1038/ejhg.2017.65. Epub 2017 May 3. PubMed PMID: 28594414; PubMed Central PMCID: PMC5520077. Tier 3, Impact Factor 4.287
  33. Ng GZ, Ke BX, Laskowski A, Thorburn DR, Sutton P. No evidence of a role for mitochondrial complex I in Helicobacter pylori pathogenesis. Helicobacter. 2017 Jun;22(3). doi: 10.1111/hel.12378. Epub 2017 Feb 9. PubMed PMID: 28181350. Tier 3, Impact Factor 3.429
  34. Huq AJ, Bogwitz M, Gorelik A, Winship IM, White SM, Trainer AH. Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment. Intern Med J. 2017 Jun;47(6):664-673. doi: 10.1111/imj.13429. PubMed PMID: 28328109. Tier 3, Impact Factor 1.902
  35. Crombie DE, Curl CL, Raaijmakers AJ, Sivakumaran P, Kulkarni T, Wong RC, Minami I, Evans-Galea MV, Lim SY, Delbridge L, Corben LA, Dottori M, Nakatsuji N, Trounce IA, Hewitt AW, Delatycki MB, Pera MF, Pébay A. Friedreich's ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency. Aging (Albany NY). 2017 May 30;9(5):1440-1452. doi: 10.18632/aging.101247. PubMed PMID: 28562313; PubMed Central PMCID: PMC5472743. Tier 3, Impact Factor 4.867
  36. Whitlam JB, Ling L, Swain M, Harrington T, Mirochnik O, Brooks I, Cronin S, Challis J, Petrovic V, Bruno DL, Mechinaud F, Conyers R, Slater H. Use of ubiquitous, highly heterozygous copy number variants and digital droplet polymerase chain reaction to monitor chimerism after allogeneic haematopoietic stem cell transplantation. Exp Hematol. 2017 May;49:39-47.e5. doi: 10.1016/j.exphem.2017.01.004. Epub 2017 Jan 29. PubMed PMID: 28147232. Tier 3, Impact Factor 2.82
  37. Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE; and additional individual contributors. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. J Inherit Metab Dis. 2017 May;40(3):423-431. doi: 10.1007/s10545-017-0015-9. Epub 2017 Feb 15. PubMed PMID: 28205048; PubMed Central PMCID: PMC5393157. Tier 3, Impact Factor 3.97
  38. O'Mahony EF, Hutchinson DP, McGillivray G, Nisbet DL, Palma-Dias R. Right-sided aortic arch in the age of microarray. Prenat Diagn. 2017 May;37(5):440-445. doi: 10.1002/pd.5029. Epub 2017 Mar 12. PubMed PMID: 28207948. Tier 3, Impact Factor 2.523
  39. Walsh M, Bell KM, Chong B, Creed E, Brett GR, Pope K, Thorne NP, Sadedin S, Georgeson P, Phelan DG, Day T, Taylor JA, Sexton A, Lockhart PJ, Kiers L, Fahey M, Macciocca I, Gaff CL, Oshlack A, Yiu EM, James PA, Stark Z, Ryan MM; Melbourne Genomics Health Alliance. Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy. Ann Clin Transl Neurol. 2017 Apr 26;4(5):318-325. doi: 10.1002/acn3.409. eCollection 2017 May. Tier 3, Impact Factor 3.901
  40. Woodcock IR , Menezes MP, Coleman l, Yaplito-Lee J, Peters H, White SM, Stapleton R, Phelan DG, Chong B, Lunke S, Stark Z, Pitt J, Ryan M, Robertson C and Yiu EM, Genetic, Radiologic,and Clinical Variability in Brown-Vialetto-van Laere Syndrome, Seminars in Pediatric Neurology, in press, DOI: http://dx.doi.org/10.1016/j.spen.2017.03.001 (4 April 2017). Tier 3, Impact Factor 2.232
  41. Zurynski Y, Deverell M, Dalkeith T, Johnson S, Christodoulou J, Leonard H, Elliott EJ; APSU Rare Diseases Impacts on Families Study group. Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays. Orphanet J Rare Dis. 2017 Apr 11;12(1):68. doi: 10.1186/s13023-017-0622-4. PubMed PMID: 28399928; PubMed Central PMCID: PMC5387276. Tier 3, Impact Factor 3.507
  42. Kane SC, Reidy KL, Norris F, Nisbet DL, Kornman LH, Palma-Dias R. Chorionic villus sampling in the cell-free DNA aneuploidy screening era: careful selection criteria can maximise the clinical utility of screening and invasive testing. Prenat Diagn. 2017 Apr;37(4):399-408. doi: 10.1002/pd.5026. Epub 2017 Mar 12. PubMed PMID: 28207933. Tier 3, Impact Factor 2.523
  43. Torraco A, Bianchi M, Verrigni D, Gelmetti V, Riley L, Niceta M, Martinelli D, Montanari A, Guo Y, Rizza T, Diodato D, Di Nottia M, Lucarelli B, Sorrentino F, Piemonte F, Francisci S, Tartaglia M, Valente EM, Dionisi-Vici C, Christodoulou J, Bertini E, Carrozzo R. A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. Clin Genet. 2017 Mar;91(3):441-447. doi: 10.1111/cge.12790. Epub 2016 May 25. PMID: 27102574. Tier 3, Impact Factor 3.326
  44. Pereira-Fantini PM, Byars SG, Pitt J, Lapthorne S, Fouhy F, Cotter PD, Bines JE. Unravelling the metabolic impact of SBS-associated microbial dysbiosis: Insights from the piglet short bowel syndrome model. Sci Rep. 2017 Feb 23;7:43326. doi: 10.1038/srep43326. PubMed PMID: 28230078; PubMed Central PMCID: PMC5322370. Tier 3, Impact Factor 4.259
  45. Alodaib A, Sobreira N, Gold WA, Riley LG, Van Bergen NJ, Wilson MJ, Bennetts B, Thorburn DR, Boehm C, Christodoulou J. Whole exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. Eur J Hum Genet. 2017: 25(1); 79-84. Tier 3, Impact Factor 4.287

2017 Tier 4 Publications

  1. Harms FL, Alawi M, Amor DJ, Tan TY, Cuturilo G, Lissewski C, Brinkmann J, Schanze D, Kutsche K, Zenker M. (2017) The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor. Am J Med Genet A. 2018 Feb;176(2):470-476. doi: 10.1002/ajmg.a.38569. Epub 2017 Dec 22. PMID: 29271604. Tier 4, Impact Factor 2.259
  2. Richards S, Pitt J, Choo S. Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T-cell receptor excision circle-based method in Victorian dried blood spots. J Paediatr Child Health. 2018 Jan;54(1):14-19. doi: 10.1111/jpc.13659. Epub 2017 Sep 1. PubMed PMID: 28861919. Tier 4, Impact Factor 1.572
  3. Harcourt BE, Bullen DVR, Kao KT, Tassoni D, Alexander EJ, Burgess T, White SM, Sabin MA. Maternal inheritance of BDNF deletion, with phenotype of obesity and developmental delay in mother and child. Am J Med Genet A. 2018 Jan;176(1):194-200. doi: 10.1002/ajmg.a.38539. Epub 2017 Nov 21. PMID: 29160031. Tier 4, Impact Factor 2.259
  4. Wenger T, Li D, Harr MH, Tan WH, Pellegrino R, Stark Z, Hakonarson H, Bhoj EJ. Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins. Am J Med Genet A. 2018 Jan;176(1):75-81. doi: 10.1002/ajmg.a.38516. Epub 2017 Nov 12. Tier 4, Impact Factor 2.259
  5. Gorrie A, Archibald AD, Ioannou L, Curnow L, McClaren B. Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening. J Community Genet. 2018 Jan;9(1):71-80. doi: 10.1007/s12687-017-0337-1. Epub 2017 Oct 2. PubMed PMID: 28971321. Tier 4, Impact Factor N/A
  6. Kam S, Bylstra Y, Forrest L, Macciocca I, Foo R. Experience of Asian males communicating cardiac genetic risk within the family. J Community Genet. 2018 Jan 8. doi: 10.1007/s12687-017-0352-2. [Epub ahead of print] PubMed PMID: 29308542. Tier 4, Impact Factor N/A
  7. Kwok SY, Pflaumer A, Pantaleo SJ, Date E, Jadhav M, Davis AM. Ten-year experience in atenolol use and exercise evaluation in children with genetically proven long QT syndrome. J Arrhythm. 2017 Dec;33(6):624-629. doi: 10.1016/j.joa.2017.08.004. Epub 2017 Oct 12. PubMed PMID: 29255512; PubMed Central PMCID: PMC5728996. Tier 4, Impact Factor N/A
  8. Baynam G, Molster C, Bauskis A, Kowal E, Savarirayan R, Kelaher M, Easteal S, Massey L, Garvey G, Goldblatt J, Pachter N, Weeramanthri TS, Dawkins HJS. Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity. Adv Exp Med Biol. 2017;1031:511-520. doi: 10.1007/978-3-319-67144-4_27. PubMed PMID: 29214589. Tier 4, Impact Factor 1.881
  9. Balasubramaniam S, Riley LG, Vasudevan A, Cowley MJ, Gayevskiy V, Roscioli T, Rowe P, Junckerstorff R, Kiraly-Borri C, Christodoulou J. EPG5-related Vici syndrome: a primary defect of autophagic regulation with an emerging phenotype overlapping with mitochondrial disorders. JIMD Rep. 2017 Nov 21. doi: 10.1007/8904_2017_71. [Epub ahead of print] PMID: 29159459. Tier 4, Impact Factor N/A
  10. Prasa R, Estrella J, Christodoulou J, McKellar G, Tchan MC. A third case of glycogen storage disease IB and giant cell tumour of the mandible: a disease association or iatrogenic complication of therapy. JIMD Rep. 2017 Nov 9. doi: 10.1007/8904_2017_67. [Epub ahead of print] PMID: 29119402. Tier 4, Impact Factor N/A
  11. Coman D, Fullston T, Shoubridge C, Leventer R, Wong F, Nazaretian S, Simpson I, Gecz J, McGillivray G. X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease. Child Neurol Open. 2017 Nov 7;4:2329048X17738625. doi: 10.1177/2329048X17738625. eCollection 2017 Jan-Dec. PubMed PMID: 29152528; PubMed Central PMCID: PMC5680935. Tier 4, Impact Factor 1.378
  12. Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S, Willoughby J; Broad Center for Mendelian Genomics; DDD study, Balasubramanian M. De novo mutations in HNRNPU result in a neurodevelopmental syndrome. Am J Med Genet A. 2017 Nov;173(11):3003-3012. doi: 10.1002/ajmg.a.38492. Epub 2017 Sep 25. Tier 4, Impact Factor 2.259
  13. Thorburn DR, Rahman J and Rahman S (2017) Mitochondrial DNA-Associated Leigh Syndrome and NARP. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 2003 Oct 30 [updated 2017 Sep 28]. PMID: 20301352. Tier 4, Impact Factor N/A
  14. Moore F, Ryder B, Christodoulou J, Balasubramaniam S. Fumarase deficiency: a high fat/low carbohydrate diet is safe and potentially disease modifying. Accepted by JIMD Report 4 October, 2017. JIMD Rep. 2017 Oct 21. doi: 10.1007/8904_2017_65. [Epub ahead of print] PMID: 29052812. Tier 4, Impact Factor N/A
  15. White KK, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Hoover-Fong JE, Irving M, Mackenzie WG, Kamps SE, Raggio C, Redding GJ, Spencer SS, Savarirayan R, Theroux MC; Skeletal Dysplasia Management Consortium. Best practices in peri-operative management of patients with skeletal dysplasias. Am J Med Genet A. 2017 Oct;173(10):2584-2595. doi: 10.1002/ajmg.a.38357. Epub 2017 Aug 1. PubMed PMID: 28763154. Tier 4, Impact Factor 2.259
  16. Lowe G, Pugh J, Kahane G, Corben L, Lewis S, Delatycki MB, Savulescu J. How should we deal with misattributed paternity? A survey of lay public attitudes. AJOB Empir Bioeth. 2017 Oct-Dec;8(4):234-242. doi: 10.1080/23294515.2017.1378751. Epub 2017 Sep 29. PMID: 28960139. Tier 4, Impact Factor N/A
  17. Zurynski Y, Gonzalez A, Deverell M, Phu A, Leonard H, Christodoulou J, Elliott E. Rare diseases: A national survey of a paediatricians experiences and needs. BMJ Paediatrics Open Accepted 5 September, 2017. Tier 4, Impact Factor N/A
  18. Miyatake S, Okamoto N, Stark Z, Nabetani M, Tsurusaki Y, Nakashima M, Miyake N, Mizuguchi T, Ohtake A, Saitsu H, Matsumoto N. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. J Hum Genet. 2017 Aug;62(8):741-746. doi: 10.1038/jhg.2017.24. Epub 2017 Mar 2. Tier 4, Impact Factor 2.471
  19. Gold WA, Sobreira N, Wiame E, Marbaix A, van Schaftingen E, Franka P, Riley LG, Worgan L, Hubner C, Christodoulou J, Ades LC. A Novel Mutation in GMPPA In Siblings with Apparent Intellectual Disability, Epilepsy, Dysmorphism, and Autonomic Dysfunction. Am J Med Genet A. 2017 Aug;173(8):2246-2250. doi: 10.1002/ajmg.a.38292. Epub 2017 Jun 2. PMID: 28574218. Tier 4, Impact Factor 2.259
  20. McKay V, Efron D, Palmer EE, White SM, Pearson C, Danchin M. Current use of chromosomal microarray by Australian paediatricians and implications for the implementation of next generation sequencing. J Paediatr Child Health. 2017 Jul;53(7):650-656. doi: 10.1111/jpc.13523. Epub 2017 Apr 27. PubMed PMID: 28449382. Tier 4, Impact Factor 1.572
  21. Downie L, Halliday J, Burt R, Lunke S, Lynch E, Martyn M, Poulakis Z, Gaff C, Sung V, Wake M, Hunter M, Saunders K, Rose E, Rehm HL, Amor DJ. A protocol for whole exome sequencing in newborns with congenital deafness – a prospective population based cohort (accepted for publication into BMJ Paediatrics Open July 2017). Tier 4, Impact Factor N/A
  22. Huq AJ, Pertile MD, Davis AM, Landon H, James PA, Kline CF, Vohra J, Mohler PJ, Delatycki MB. A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation. Heart Lung Circ. 2017 Jun;26(6):612-618. doi: 10.1016/j.hlc.2016.09.013. Epub 2016 Nov 16. PubMed PMID: 27916589; PubMed Central PMCID: PMC5413386. Tier 4, Impact Factor 2.028
  23. Murray N, Burgess B, Hay R, Colley A, Rajagopalan S, McGaughran J, Patel C, Enriquez A, Goodwin L, Stark Z, Tan T, Wilson M, Roscioli T, Tekin M, Goel H. KBG syndrome: An Australian experience. Am J Med Genet A. 2017 Apr 27. doi: 10.1002/ajmg.a.38121. [Epub ahead of print] PubMed PMID: 28449295. Tier 4, Impact Factor 2.259
  24. Marsh AP, Yap P, Tan T, Pope K, White SM, Chong B, Mcgillivray G, Boys A, Stephenson SE, Leventer RJ, Stark Z, Lockhart PJ. A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9. Am J Med Genet A 2017 Mar;173(3):820-823. doi: 10.1002/ajmg.a.38076. Epub 2017 Feb 7. PubMed PMID: 28168832. Tier 4, Impact Factor 2.259
  25. Kaufman J, White SM. An approach to the child with dysmorphic features. J Paediatr Child Health. 2017 Mar;53(3):221-222. doi: 10.1111/jpc.13316. PubMed PMID: 28251749. Tier 4, Impact Factor 1.572
  26. Balasubramaniam S, Lewis B, Mock DM, Said HM, Tarailo-Graovac M, Mattman A, van Karnebeek CD, Thorburn DR, Rodenburg RJ, Christodoulou J. Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). JIMD Rep. 2017;33:111. doi: 10.1007/8904_2017_588. PubMed PMID: 29076057; PubMed Central PMCID: PMC5669218. Tier 4, Impact Factor N/A
  27. Nafisinia M, Guo Y, Dang X, Li J, Chen Y, Zhang J, Lake NJ, Gold WA, Riley LG, Thorburn DR, Keating B, Xu X, Hakonarson K, Christodoulou J. Whole exome sequencing identifies the genetic basis of late-onset Leigh syndrome in a patient with MRI but little biochemical evidence of a mitochondrial disorder. J Inher Metab Dis Reports 2017: 32: 117-124. PMID: 27344648 PMCID: PMC5362551 DOI: 10.1007/8904_2016_541. Tier 4, Impact Factor N/A
  28. Bidichandani SI, Delatycki MB. Friedreich Ataxia. 1998 Dec 18 [updated 2017 Jun 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from http://www.ncbi.nlm.nih.gov/books/NBK1281/. Book Chapter. PubMed PMID: 20301458. Tier 4, Impact Factor N/A

2017 Publications with Tier Not Applicable

  1. Lombès A and Thorburn DR (2017) Chapter 259: Laboratory Diagnosis of Mitochondrial Diseases. In The Online Metabolic and Molecular Bases of Inherited Disease (D Valle, AL Beaudet, B Vogelstein, KW Kinzler, SE Antonarakis, A Ballabio, KM Gibson, G Mitchell, eds), McGraw-Hill Education, New York. Tier and Impact Factor N/A
  2. Archer H, Christodoulou J, Clarke A. The Clinical Genetics of Rett Syndrome. In: Kaufmann WE, Percy AK, Clarke A, Leonard H, Naidu SB. Eds. Rett Syndrome. Clinics in Developmental Medicine. 2017 Mac Keith Press. pp 24-40. Book Chapter 3. Tier and Impact Factor N/A
  3. Gold WA, Naidu SB, Christodoulou J. Treatments for Rett Syndrome: Prospects for targeted therapies. In: Kaufmann WE, Percy AK, Clarke A, Leonard H, Naidu SB. Eds. Rett Syndrome. Clinics in Developmental Medicine. 2017 Mac Keith Press. pp 170-197. Book Chapter 14. Tier and Impact Factor N/A
  4. Chapter 1: Introduction to Human Genetics” by Martin Delatycki & Grant Blashki, “Chapter 4: Common Genetic Conditions” by Tiong Tan, “Chapter 7: Genetic Screening” by Martin Delatycki, “Chapter 11: The Future of Genetics” by Zornitza Stark and Kathryn North. Genes for Life, edited by Martin Delatycki, Grant Blashki and Helen Sykes. 2017. Published. Albert Park, Vic. Future Leaders, 2017. Tier and Impact Factor N/A
  5. Schmitz-Hübsch T, Delatycki MB. International Cooperative Ataxia Rating Scale (ICARS). In Reference Module in Neuroscience and Biobehavioral Psychology, Elsevier, Chapter, Dec 2017. ISBN 9780128093245. DOI: 10.1016/B978-0-12-809324-5.00638-6. Tier and Impact Factor N/A

2016 Tier 1a Publications

  1. Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium.; Deciphering Developmental Disorders Study.; NIHR BioResource Rare Diseases Consortium., Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2016 Dec 19. doi: 10.1038/ng.3740. [Epub ahead of print] PMID: 27992417. Tier 1a, Impact Factor 31.616.
  2. Stessman HAF, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid B-M, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral D, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE. Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental-disability biases. Nat Genet (in press - accepted 10 December 2016). Tier 1a, Impact Factor 31.616.
  3. Stroud DA, Surgenor EE, Formosa LE, Reljic B, Frazier AE, Dibley MG, Osellame LD, Stait T, Beilharz TH, Thorburn DR, Salim A, Ryan MT. Accessory subunits are integral for assembly and function of human mitochondrial complex I. Nature. 2016 Oct 6;538(7623):123-126. doi: 10.1038/nature19754. PubMed PMID: 27626371. Tier 1a, Impact Factor 38.138.
  4. Bagnall RD, Weintraub RG, Ingles J, Duflou J, Yeates L, Lam L, Davis AM, Thompson T, Connell V, Wallace J, Naylor C, Crawford J, Love DR, Hallam L, White J, Lawrence C, Lynch M, Morgan N, James P, du Sart D, Puranik R, Langlois N, Vohra J, Winship I, Atherton J, McGaughran J, Skinner JR, Semsarian C. A Prospective Study of Sudden Cardiac Death among Children and Young Adults. N Engl J Med. 2016 Jun 23;374(25):2441-52. doi: 10.1056/NEJMoa1510687. PubMed PMID: 27332903. Tier 1a, Impact Factor 59.558.

2016 Tier 1b Publications

  1. Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F; University of Washington Center for Mendelian Genomics., Kraoua I, Panteghini C, Valletta L, Garavaglia B, Cowley MJ, Gayevskiy V, Roscioli T, Silberstein JM, Hoffmann C, Raas-Rothschild A, Tiranti V, Anikster Y, Christodoulou J, Kastaniotis AJ, Ben-Zeev B, Hayflick SJ. MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. Am J Hum Genet. 2016: 99(6); 1229-1244. doi: 10.1016/j.ajhg.2016.09.021. PubMed PMID: 27817865; PubMed Central PMCID: PMC5142118. Tier 1b, Impact Factor 10.794.
  2. Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biol. 2016 Nov 29;17(1):243. PubMed PMID: 27899157; PubMed Central PMCID: PMC5126855. Tier 1b, Impact Factor 11.313.
  3. Vaz B, Popovic M, Newman JA, Fielden J, Aitkenhead H, Halder S, Singh AN, Vendrell I, Fischer R, Torrecilla I, Drobnitzky N, Freire R, Amor DJ, Lockhart PJ, Kessler BM, McKenna GW, Gileadi O, Ramadan K. Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair. Mol Cell. 2016 Nov 17;64(4):704-719. doi: 10.1016/j.molcel.2016.09.032. PMID: 27871366. Tier 1b, Impact Factor 13.958.
  4. Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, Geraedts JP, Gimelli G, Jacobson SG, Le Caignec C, de Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp C, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ. DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. Am J Hum Genet. 2016 Sep 1;99(3):555-66. doi: 10.1016/j.ajhg.2016.06.032. PubMed PMID: 27569549; PubMed Central PMCID: PMC5011056. Tier 1b, Impact Factor 10.794.
  5. Phelan DG, Anderson DJ, Howden SE, Wong RC, Hickey PF, Pope K, Wilson GR, Pébay A, Davis AM, Petrou S, Elefanty AG, Stanley EG, James PA, Macciocca I, Bahlo M, Cheung MM, Amor DJ, Elliott DA, Lockhart PJ. ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy. Eur Heart J. 2016 Sep 1;37(33):2586-90. doi: 10.1093/eurheartj/ehw160. PubMed PMID: 27106955. Tier 1b, Impact Factor 15.064.
  6. Burns C, Cheung A, Stark Z, Choo S, Downie L, White S, Conyers R, Cole T. A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature. J Allergy Clin Immunol Pract. 2016 Jul-Aug;4(4):777-9. doi: 10.1016/j.jaip.2016.02.015. PubMed PMID: 27117246. Tier 1b, Impact Factor 12.485.
  7. Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. Am J Hum Genet. 2016 Jul 7;99(1):217-27. doi: 10.1016/j.ajhg.2016.05.021. PubMed PMID: 27374774; PubMed Central PMCID: PMC5005451. Tier 1b, Impact Factor 10.794.
  8. Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium., Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS. Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. Am J Hum Genet. 2016 Jul 7;99(1):125-38. doi: 10.1016/j.ajhg.2016.05.019. PubMed PMID: 27374770; PubMed Central PMCID: PMC5005452. Tier 1b, Impact Factor 10.794.
  9. Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJ, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RC, Chung B, Lehman A, Su J, Ng S, Amor DJ; University of Washington Center for Mendelian Genomics.; Care4Rare Canada Consortium., Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet. 2016 Mar 3;98(3):579-87. doi: 10.1016/j.ajhg.2016.02.006. PubMed PMID: 26942290; PubMed Central PMCID: PMC4800051. Tier 1b, Impact Factor 10.794.
  10. Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393. PubMed PMID: 26917586; PubMed Central PMCID: PMC4766378. Tier 1b, Impact Factor 10.103.
  11. Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B; DDD Study., Gecz J, Gilissen C, Brunner HG, Kini U, Roepman R, Nordgren A, Kleefstra T. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. Am J Hum Genet. 2016 Feb 4;98(2):373-81. doi: 10.1016/j.ajhg.2015.12.015. PubMed PMID: 26833328; PubMed Central PMCID: PMC4746365. Tier 1b, Impact Factor 10.794.

2016 Tier 2 Publications

  1. Hudson DF, Amor DJ, Boys A, Butler K, Williams L, Zhang T, Kalitsis P. Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome. PLoS Genet. 2016 Dec 15;12(12):e1006483. doi: 10.1371/journal.pgen.1006483. PubMed PMID: 27977684; PubMed Central PMCID: PMC5157948. Tier 2, Impact Factor 6.661.
  2. Stark Z, Tan TY, Chong B, Brett GR, Yap P, Walsh M, Yeung A, Peters H, Mordaunt D, Cowie S, Amor DJ, Savarirayan R, McGillivray G, Downie L, Ekert PG, Theda C, James PA, Yaplito-Lee J, Ryan MM, Leventer RJ, Creed E, Macciocca I, Bell KM, Oshlack A, Sadedin S, Georgeson P, Anderson C, Thorne N, Melbourne Genomics Health Alliance, Gaff C, White SM. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet Med. 2016 Nov;18(11):1090-1096. doi: 10.1038/gim.2016.1. PMID: 26938784. Tier 2, Impact Factor 7.71.
  3. Harding IH, Raniga P, Delatycki MB, Stagnitti MR, Corben LA, Storey E, Georgiou-Karistianis N, Egan GF. Tissue atrophy and elevated iron concentration in the extrapyramidal motor system in Friedreich ataxia: the IMAGE-FRDA study. J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1261-1263. doi: 10.1136/jnnp-2015-312665. No abstract available. PMID: 27010617. Tier 2, Impact Factor 6.431.
  4. Amor DJ, Marsh AP, Storey E, Tankard R, Gillies G, Delatycki MB, Pope K, Bromhead C, Leventer RJ, Bahlo M, Lockhart PJ. Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency. Neurol Genet. 2016 Oct 18;2(6):e114. PMID: 27790638. Tier 2, Impact Factor 8.166.
  5. Cohen PA, Flowers N, Tong S, Hannan N, Pertile MD, Hui L. Abnormal plasma DNA profiles in early ovarian cancer using a non-invasive prenatal testing platform: implications for cancer screening. BMC Med. 2016 Aug 24;14(1):126. doi: 10.1186/s12916-016-0667-6. PubMed PMID: 27558279; PubMed Central PMCID: PMC4997750. Tier 2, Impact Factor 8.005.
  6. Ghi T, Sotiriadis A, Calda P, Da Silva Costa F, Raine-Fenning N, Alfirevic Z, McGillivray G; ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis. Ultrasound Obstet Gynecol. 2016 Aug;48(2):256-68. doi: 10.1002/uog.15945. PubMed PMID: 27485589. Tier 2, Impact Factor 4.197.
  7. Hui L, Pertile M, Tassone M, Bruno D. Minimal impact of maternal intravenous immunoglobulin infusion on cell-free DNA sequencing for fetal aneuploidy. Ultrasound Obstet Gynecol. 2016 Aug;48(2):250. doi: 10.1002/uog.15803. PubMed PMID: 26643390. Tier 2, Impact Factor 4.197.
  8. Delatycki MB, Bandmann O. Huntington disease: More common than you think? Neurology. 2016 Jul 19;87(3):247-8. doi: 10.1212/WNL.0000000000002874. No abstract available. PMID: 27335111. Tier 2, Impact Factor 8.166.
  9. Bauquier J, Stent A, Gibney J, Jerrett I, White J, Tennent-Brown B, Pearce A, Pitt J. Evidence for marsh mallow (Malva parviflora) toxicosis causing myocardial disease and myopathy in four horses. Equine Vet J. 2016 Jun 24. doi: 10.1111/evj.12604. [Epub ahead of print] PubMed PMID: 27341541. Tier 2, Impact Factor 2.475 (2015).
  10. Wilson BT, Stark Z, Sutton RE, Danda S, Ekbote AV, Elsayed SM, Gibson L, Goodship JA, Jackson AP, Keng WT, King MD, McCann E, Motojima T, Murray JE, Omata T, Pilz D, Pope K, Sugita K, White SM, Wilson IJ. The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. Genet Med. 2016 May;18(5):483-93. doi: 10.1038/gim.2015.110. PMID: 26204423. Tier 2, Impact Factor 7.71.
  11. Galea CA, Huq A, Lockhart PJ, Tai G, Corben LA, Yiu EM, Gurrin LC, Lynch DR, Gelbard S, Durr A, Pousset F, Parkinson M, Labrum R, Giunti P, Perlman SL, Delatycki MB, Evans-Galea MV. Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia. Ann Neurol. 2016 Mar;79(3):485-95. doi: 10.1002/ana.24595. PMID: 26704351. Tier 2, Impact Factor 9.638.
  12. Aliaga SM, Slater HR, Francis D, Du Sart D, Li X, Amor DJ, Alliende AM, Santa Maria L, Faundes V, Morales P, Trigo C, Salas I, Curotto B, Godler DE. Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis. Clin Chem. 2016 Feb;62(2):343-52. doi: 10.1373/clinchem.2015.244681. PubMed PMID: 26715660. Tier 2, Impact Factor 7.457.
  13. Lake NJ, Compton AG, Rahman S, Thorburn DR. Leigh syndrome: One disorder, more than 75 monogenic causes. Ann Neurol. 2016 Feb;79(2):190-203. doi: 10.1002/ana.24551. Review. PubMed PMID: 26506407. Tier 2, Impact Factor 9.638.
  14. Harding IH, Corben LA, Storey E, Egan GF, Stagnitti MR, Poudel GR, Delatycki MB, Georgiou-Karistianis N. Fronto-cerebellar dysfunction and dysconnectivity underlying cognition in friedreich ataxia: The IMAGE-FRDA study. Hum Brain Mapp. 2016 Jan;37(1):338-50. doi: 10.1002/hbm.23034. PMID: 26502936. Tier 2, Impact Factor 4.962.
  15. Sim JC, Scerri T, Fanjul-Fernández M, Riseley JR, Gillies G, Pope K, van Roozendaal H, Heng JI, Mandelstam SA, McGillivray G, MacGregor D, Kannan L, Maixner W, Harvey AS, Amor DJ, Delatycki MB, Crino PB, Bahlo M, Lockhart PJ, Leventer RJ. Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3. Ann Neurol. 2016 Jan;79(1):132-7. doi: 10.1002/ana.24502. PMID: 26285051. Tier 2, Impact Factor 9.638.
  16. Paap B, Roeske S, Durr A, Schöls L, Ashizawa T, Boesch S, Delatycki MB, Giunti P, Lehericy S, Mariotti C, Melegh B, Pandolfo M, Tallaksen C, Timmann-Braun D, Tsuji S, Schulz J, van de Warrenburg B, Klockgether T. Standardized assessment of hereditary ataxia patients in clinical studies. Mov Disord Clin Pract 3:230-240, 2016. Tier 2, Impact Factor 6.01.
  17. Fehr S, Wong K, Chin R, Williams S, de Klerk N, Forbes D, Krishnaraj R, Christodoulou J, Downs J, Leonard H. Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder. Neurology. 2016: 87(21); 2206-2213. Tier 2, Impact Factor 8.166.

2016 Tier 3 Publications

  1. Riley LG, Cowley MJ, Gayevskiy V, Roscioli T, Thorburn DR, Prelog K, Bahlo M, Sue CM, Balasubramaniam S, Christodoulou J. A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. J Inherit Metab Dis. 2017: 40(2); 261-269 PubMed PMID: 27995398. Tier 3, Impact Factor 3.541.
  2. Shelton AL, Cornish KM, Kolbe S, Clough M, Slater HR, Li X, Kraan CM, Bui QM, Godler DE, Fielding J. Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females. Transl Psychiatry. 2016 Dec 13;6(12):e984. doi: 10.1038/tp.2016.250. PubMed PMID: 27959330. Tier 3, Impact Factor 5.538.
  3. Selvadurai LP, Harding IH, Corben LA, Stagnitti MR, Storey E, Egan GF, Delatycki MB, Georgiou-Karistianis N. Cerebral and cerebellar grey matter atrophy in Friedreich ataxia: the IMAGE-FRDA study. J Neurol. 2016 Nov;263(11):2215-2223. PMID: 27522354. Tier 3, Impact Factor 3.408.
  4. Warne CD, Zaloumis SG, Bertalli NA, Delatycki MB, Nicoll AJ, McLaren CE, Hopper JL, Giles GG, Anderson GJ, Olynyk JK, Powell LW, Allen KJ, Gurrin LC; HealthIron Study Investigators. HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: a genotype-stratified cohort study of hemochromatosis in Australian women. J Gastroenterol Hepatol. 2016 Oct 26. doi: 10.1111/jgh.13621. [Epub ahead of print] PMID: 27784128. Tier 3, Impact Factor 3.322.
  5. Stark Z, Wallace J, Gillam L, Burgess M, Delatycki MB. Predictive genetic testing for neurodegenerative conditions: how should conflicting interests within families be managed? J Med Ethics. 2016 Oct;42(10):640-2. doi: 10.1136/medethics-2016-103400. PubMed PMID: 27281798. Tier 3, Impact Factor 1.764.
  6. Wright DC, Adayapalam N, Bain N, Bain SM, Brown A, Buzzacott N, Carey L, Cross J, Dun K, Joy C, McCarthy C, Moore S, Murch AR, O'Malley F, Parker E, Watt J, Wilkin H, Fagan K, Pertile MD, Peters GB. Chromosome microarray proficiency testing and analysis of quality metric data trends through an external quality assessment program for Australasian laboratories. Pathology. 2016 Oct;48(6):586-96. doi: 10.1016/j.pathol.2016.05.009. PMID: 27575971. Tier 3, Impact Factor 2.968.
  7. Tai G, Corben LA, Yiu EM, Delatycki MB. A longitudinal study of the SF-36 version 2 in Friedreich ataxia. Acta Neurol Scand. 2016 Sep 28. doi: 10.1111/ane.12693. [Epub ahead of print] PMID: 27679455. Tier 3, Impact Factor 2.559.
  8. Hwang YT, Dudding T, Aliaga SM, Arpone M, Francis D, Li X, Slater HR, Rogers C, Bretherton L, du Sart D, Heard R, Godler DE. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes (Basel). 2016 Sep 21;7(9). pii: E68. doi: 10.3390/genes7090068. PubMed PMID: 27657133; PubMed Central PMCID: PMC5042398. Tier 3, Impact Factor 3.242 (2015).
  9. Barnett CP, Nataren NJ, Klingler-Hoffmann M, Schwarz Q, Chong CE, Lee YK, Bruno DL, Lipsett J, McPhee AJ, Schreiber AW, Feng J, Hahn CN, Scott HS. Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing. Hum Mutat. 2016 Sep;37(9):955-63. doi: 10.1002/humu.23032. PMID: 27323706. Tier 3, Impact Factor 5.089.
  10. Menezes MP, Rahman S, Bhattacharya K, Clark D, Christodoulou J, Ellaway C, Farrar M, Pitt M, Sampaio H, Ware TL, Wedatilake Y, Thorburn DR, Ryan MM, Ouvrier R. Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease. Mitochondrion. 2016: 30; 162-7. doi: 10.1016/j.mito.2016.07.014. PubMed PMID: 27475922. Tier 3, Impact Factor 3.647.
  11. Ong SY, Nicoll AJ, Delatycki MB. How should hyperferritinaemia be investigated and managed? Eur J Intern Med. 2016 Sep;33:21-7. doi: 10.1016/j.ejim.2016.05.014. Review. PMID: 27346296. Tier 3, Impact Factor 2.591 (2015).
  12. Murphy NM, Burton M, Powell DR, Rossello FJ, Cooper D, Chopra A, Hsieh MJ, Sayer DC, Gordon L, Pertile MD, Tait BD, Irving HR, Pouton CW. Haplotyping the human leukocyte antigen system from single chromosomes. Sci Rep. 2016 Jul 27;6:30381. doi: 10.1038/srep30381. PubMed PMID: 27461731; PubMed Central PMCID: PMC4961964. Tier 3, Impact Factor 5.228.
  13. Kraan CM, Cornish KM, Bui QM, Li X, Slater HR, Godler DE. β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles. Sci Rep. 2016 Jul 8;6:29366. doi: 10.1038/srep29366. PubMed PMID: 27387142; PubMed Central PMCID: PMC4937393. Tier 3, Impact Factor 5.228.
  14. Buena-Atienza E, Rüther K, Baumann B, Bergholz R, Birch D, De Baere E, Dollfus H, Greally MT, Gustavsson P, Hamel CP, Heckenlively JR, Leroy BP, Plomp AS, Pott JW, Rose K, Rosenberg T, Stark Z, Verheij JB, Weleber R, Zobor D, Weisschuh N, Kohl S, Wissinger B. De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy. Sci Rep. 2016 Jun 24;6:28253. doi: 10.1038/srep28253. PubMed PMID: 27339364; PubMed Central PMCID: PMC4919619. Tier 3, Impact Factor 5.228.
  15. Crombie DE, Pera MF, Delatycki MB, Pébay A. Using human pluripotent stem cells to study Friedreich ataxia cardiomyopathy. Int J Cardiol. 2016 Jun 1;212:37-43. doi: 10.1016/j.ijcard.2016.03.040. Review. PMID: 27019046. Tier 3, Impact Factor 4.638.
  16. Kusuma GD, Abumaree MH, Pertile MD, Perkins AV, Brennecke SP, Kalionis B. Mesenchymal Stem/Stromal Cells Derived From a Reproductive Tissue Niche Under Oxidative Stress Have High Aldehyde Dehydrogenase Activity. Stem Cell Rev. 2016 Jun;12(3):285-97. doi: 10.1007/s12015-016-9649-5. PubMed PMID: 26880140. Tier 3, Impact Factor 3.111.
  17. McLELLAN AJ, Ellims AH, Prabhu S, Voskoboinik A, Iles LM, Hare JL, Kaye DM, Macciocca I, Mariani JA, Kalman JM, Taylor AJ, Kistler PM. Diffuse Ventricular Fibrosis on Cardiac Magnetic Resonance Imaging Associates With Ventricular Tachycardia in Patients With Hypertrophic Cardiomyopathy. J Cardiovasc Electrophysiol. 2016 May;27(5):571-80. doi: 10.1111/jce.12948. PubMed PMID: 26840595. Tier 3, Impact Factor 3.097.
  18. Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BH, Wong WL, Chu YW, Mok GT, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May;135(5):569-86. doi: 10.1007/s00439-016-1655-9. PubMed PMID: 27071622. Tier 3. Impact Factor 5.138.
  19. Yap P, Super L, Qin J, Burgess T, Prodanovic Z, Edwards C, Thomas R, Carpenter K, Tan TY. Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1. Pediatr Blood Cancer. 2016 Apr;63(4):706-8. doi: 10.1002/pbc.25812. PubMed PMID: 26514327. Tier 3, Impact Factor 2.634.
  20. Jacobsen JC, Wilson C, Cunningham V, Glamuzina E, Prosser DO, Love DR, Burgess T, Taylor J, Swan B, Hill R, Robertson SP, Snell RG, Lehnert K. Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder. J Inherit Metab Dis. 2016 Mar;39(2):305-8. doi: 10.1007/s10545-015-9897-6. PMID: 26497564. Tier 3, Impact Factor 3.541.
  21. Mordaunt DA, Savarirayan R. Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement? Hum Mutat. 2016 Mar;37(3):324. doi: 10.1002/humu.22937. No abstract available. PMID: 26866824. Tier 3, Impact Factor 5.089.
  22. Qin SQ, Kusuma GD, Al-Sowayan B, Pace RA, Isenmann S, Pertile MD, Gronthos S, Abumaree MH, Brennecke SP, Kalionis B. Establishment and characterization of fetal and maternal mesenchymal stem/stromal cell lines from the human term placenta. Placenta. 2016 Mar;39:134-46. doi: 10.1016/j.placenta.2016.01.018. PubMed PMID: 26992686. Tier 3, Impact Factor 2.972.
  23. Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center., van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium., Bulman DE, Boycott KM, Lines MA. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Hum Mutat. 2016 Feb;37(2):148-54. doi: 10.1002/humu.22924. Review. PMID: 26507355. Tier 3, Impact Factor 5.089.
  24. Alodaib A, Sobreira N, Gold WA, Riley LG, Van Bergen NJ, Wilson MJ, Bennetts B, Thorburn DR, Boehm C, Christodoulou J. Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. Eur J Hum Genet. 2017: 25(1); 79-84. doi: 10.1038/ejhg.2016.128. PubMed PMID: 27759031; PubMed Central PMCID: PMC5159763. Tier 3, Impact Factor 4.58.
  25. Miyake N, Tsurusaki Y, Koshimizu E, Okamoto N, Kosho T, Brown NJ, Tan TY, Yap PJ, Suzumura H, Tanaka T, Nagai T, Nakashima M, Saitsu H, Niikawa N, Matsumoto N. Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. Clin Genet. 2016 Jan;89(1):115-9. doi: 10.1111/cge.12586. PubMed PMID: 25810209. Tier 3, Impact Factor 3.892.
  26. Paul JL, Pope-Couston R, Wake S, Burgess T, Tan TY. Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice. Eur J Hum Genet. 2016 Jan;25(1):22-30. doi: 10.1038/ejhg.2016.135. PMID: 27848942. Tier 3, Impact Factor 4.58.

2016 Tier 4 Publications

  1. Hwang YT, Aliaga SM, Arpone M, Francis D, Li X, Chong B, Slater HR, Rogers C, Bretherton L, Hunter M, Heard R, Godler DE. Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report. Am J Med Genet A. 2016 Dec;170(12):3327-3332. doi: 10.1002/ajmg.a.37954. PubMed PMID: 27696642. Tier 4, Impact Factor 2.082.
  2. White M, McGillivray G, White SM, Zacharin MR. First report of congenital adrenal cysts and pheochromocytoma in a patient with mosaic genome-wide paternal uniparental disomy. Am J Med Genet A. 2016 Dec;170(12):3352-3355. doi: 10.1002/ajmg.a.37959. PubMed PMID: 27734603. Tier 4, Impact Factor 2.082.
  3. Huq AJ, Pertile MD, Davis AM, Landon H, James PA, Kline CF, Vohra J, Mohler PJ, Delatycki MB. A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation. Heart Lung Circ. 2016 Nov 16. pii: S1443-9506(16)31657-2. doi: 10.1016/j.hlc.2016.09.013. [Epub ahead of print] PMID: 27916589. Tier 4, Impact Factor n/a.
  4. Bjorksten AR, Gillies RL, Hockey BM, Du Sart D. Sequencing of genes involved in the movement of calcium across human skeletal muscle sarcoplasmic reticulum: continuing the search for genes associated with malignant hyperthermia. Anaesth Intensive Care. 2016 Nov;44(6):762-768. PMID: 27832566. Tier 4, Impact Factor 1.283.
  5. Crawford A, Moore L, Bennett G, Savarirayan R, Manton N, Khong Y, Barnett CP, Haan E. Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures. Am J Med Genet A. 2016 Nov;170(11):2960-2964. doi: 10.1002/ajmg.a.37856. PubMed PMID: 27481052. Tier 4, Impact Factor 2.082.
  6. Farlie PG, Baker NL, Yap P, Tan TY. Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology. Mol Syndromol. 2016 Nov;7(6):312-321. Review. PMID: 27920634. Tier 4, Impact Factor n/a.
  7. Wilkins EJ, Archibald AD, Sahhar MA, White SM. "It wasn't a disaster or anything": Parents' experiences of their child's uncertain chromosomal microarray result. Am J Med Genet A. 2016 Nov;170(11):2895-2904. doi: 10.1002/ajmg.a.37838. PubMed PMID: 27411073. Tier 4, Impact Factor 2.082.
  8. Xu JX, Kilpatrick N, Baker NL, Penington A, Farlie PG, Tan TY. Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies. Mol Syndromol. 2016 Nov;7(6):322-328. PubMed PMID: 27920635; PubMed Central PMCID: PMC5131331. Tier 4, Impact Factor n/a.
  9. Yap P, Savarirayan R. Emerging targeted drug therapies in skeletal dysplasias. Am J Med Genet A. 2016 Oct;170(10):2596-604. doi: 10.1002/ajmg.a.37734. Review. PubMed PMID: 27155200. Tier 4, Impact Factor 2.082.
  10. Vogel AP, Wardrop MI, Folker JE, Synofzik M, Corben LA, Delatycki MB, Awan SN. Voice in Friedreich Ataxia. J Voice. 2016 Aug 5. pii: S0892-1997(16)30017-0. doi: 10.1016/j.jvoice.2016.04.015. [Epub ahead of print] PMID: 27501923. Tier 4, Impact Factor 1.113.
  11. Beard CA, Amor DJ, Di Pietro L, Archibald AD. "I'm Healthy, It's Not Going To Be Me": Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia. Am J Med Genet A. 2016 Aug;170(8):2052-9. doi: 10.1002/ajmg.a.37697. PubMed PMID: 27150953. Tier 4, Impact Factor 2.082.
  12. Faure A, Bouty A, Caruana G, Williams L, Burgess T, Wong MN, James PA, O'Brien M, Walker A, Bertram JF, Heloury Y. DNA copy number variants: A potentially useful predictor of early onset renal failure in boys with posterior urethral valves. J Pediatr Urol. 2016 Aug;12(4):227.e1-7. doi: 10.1016/j.jpurol.2016.02.020. PMID: 27160979. Tier 4, Impact Factor 1.17.
  13. Shinnick JE, Schadt K, Strawser C, Wilcox N, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Yiu EM, Delatycki MB, Brocht AF, Farmer JM, Lynch DR. Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency. J Child Neurol. 2016 Aug;31(9):1161-5. doi: 10.1177/0883073816643408. PMID: 27071470. Tier 4, Impact Factor 1.434.
  14. Milne SC, Corben LA, Yiu E, Delatycki MB, Georgiou-Karistianis N. Gastrocnemius and soleus spasticity and muscle length in Friedreich's ataxia. J Clin Neurosci. 2016 Jul;29:29-34. doi: 10.1016/j.jocn.2016.01.011. PMID: 27021226. Tier 4, Impact Factor 1.387.
  15. Mastrangelo M, Scheffer IE, Bramswig NC, Nair LD, Myers CT, Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V. Epilepsy in KCNH1-related syndromes. Epileptic Disord. 2016 Jun 1;18(2):123-36. doi: 10.1684/epd.2016.0830. PubMed PMID: 27267311. Tier 4, Impact Factor 0.942.
  16. Abdul Jalil MF, Russell J, Delatycki M, Gonzalvo A. Congenital biparietal foramina presenting with multiple concussions. Clin Neurol Neurosurg. 2016 Jun;145:6-7. doi: 10.1016/j.clineuro.2016.03.013. PMID: 27058439. Tier 4, Impact Factor 1.198 (2015).
  17. Cotter M, Archibald AD, McClaren BJ, Burgess T, Francis D, Hills L, Martyn M, Oertel R, Slater H, Cohen J, Metcalfe SA. Clinical audit of genetic testing and referral patterns for fragile X and associated conditions. Am J Med Genet A. 2016 Jun;170(6):1439-49. doi: 10.1002/ajmg.a.37603. PubMed PMID: 26892444. Tier 4, Impact Factor 2.082.
  18. Heland S, Hewitt JK, McGillivray G, Walker SP. Preventing female virilisation in congenital adrenal hyperplasia: The controversial role of antenatal dexamethasone. Aust N Z J Obstet Gynaecol. 2016 Jun;56(3):225-32. doi: 10.1111/ajo.12423. Review. PMID: 26661642. Tier 4, Impact Factor 1.738.

  19. Yap P, Liebelt JE, Amor DJ, Moore L, Savarirayan R. Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype. Am J Med Genet A. 2016 May;170A(5):1363-6. doi: 10.1002/ajmg.a.37548. PubMed PMID: 26754439. Tier 4, Impact Factor 2.082.

  20. Archibald AD, Hickerton CL, Wake SA, Jaques AM, Cohen J, Metcalfe SA. "It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare. J Community Genet. 2016 Apr;7(2):159-71. doi: 10.1007/s12687-016-0262-8. PubMed PMID: 26842720; PubMed Central PMCID: PMC4796042. Tier 4, Impact Factor n/a.
  21. Leffler M, Puusepp S, Žilina O, Zhu Y, Kuuse K, Bain N, Burgess T, Õunap K, Field M. Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R. Eur J Med Genet. 2016 Apr;59(4):257-62. doi: 10.1016/j.ejmg.2015.12.002. PMID: 26689622. Tier 4, Impact Factor 1.81.

  22. White KK, Savarirayan R, Goldberg MJ, MacKenzie W, Bompadre V, Bober MB, Cho TJ, Hoover-Fong J, Parnell SE, Raggio C, Spencer SA, Campbell JW, Rapoport DM, Kifle Y, Blackledge M. Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?". Am J Med Genet A. 2016 Apr;170A(4):1101-3. doi: 10.1002/ajmg.a.37546. PubMed PMID: 26754314. Tier 4, Impact Factor 2.082.
  23. Wallis M, Tsurusaki Y, Burgess T, Borzi P, Matsumoto N, Miyake N, True D, Patel C. Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1. Am J Med Genet A. 2016 Mar;170(3):717-24. doi: 10.1002/ajmg.a.37478. PMID: 26590955. Tier 4, Impact Factor 2.082.
  24. Wilson BT, Lochan A, Stark Z, Sutton RE. Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. Am J Med Genet A. 2016 Mar;170(3):773-6. doi: 10.1002/ajmg.a.37501. PMID: 26749132. Tier 4, Impact Factor 2.082.
  25. Hood RL, McGillivray G, Hunter MF, Roberston SP, Bulman DE, Boycott KM, Stark Z; Care4Rare Canada Consortium. Severe connective tissue laxity including aortic dilatation in Sotos syndrome. Am J Med Genet A. 2016 Feb;170A(2):531-5. doi: 10.1002/ajmg.a.37402. PubMed PMID: 26613968. Tier 4, Impact Factor 2.082.
  26. Duong BT, Savarirayan R, Winship I. Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned. Fam Cancer. 2016 Jan;15(1):25-9. doi: 10.1007/s10689-015-9829-5. PMID: 26275867. Tier 4, Impact Factor 2.09.
  27. Duong BT, Savarirayan R, Winship I. Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned. Fam Cancer. 2016 Jan;15(1):25-9. doi: 10.1007/s10689-015-9829-5. PMID: 26275867. Tier 4, Impact Factor 2.09.
  28. Edwards M, Brescianini S, Allgood C, Freelander M, Dunstan R, Patradoon-Ho P, Chin R, Morgan L, Pervez T, Legendre M, Burgess T, Amselem S, Whitehall J. Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray. J Paediatr Child Health. 2016 Jan;52(1):85-9. doi: 10.1111/jpc.12981. PubMed PMID: 26228624. Tier 4, Impact Factor 1.477.
  29. Higgs EJ, McClaren BJ, Sahhar MA, Ryan MM, Forbes R. 'A short time but a lovely little short time': Bereaved parents' experiences of having a child with spinal muscular atrophy type 1. J Paediatr Child Health. 2016 Jan;52(1):40-6. doi: 10.1111/jpc.12993. PubMed PMID: 26437687. Tier 4, Impact Factor 1.477.
  30. White KK, Bompadre V, Goldberg MJ, Bober MB, Campbell JW, Cho TJ, Hoover-Fong J, Mackenzie W, Parnell SE, Raggio C, Rapoport DM, Spencer SA, Savarirayan R. Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. Am J Med Genet A. 2016 Jan;170A(1):42-51. doi: 10.1002/ajmg.a.37394. PubMed PMID: 26394886. Tier 4, Impact Factor 2.082.

2016 Publications with Tier Not Applicable

  1. Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM. Mitochondrial diseases. Nat Rev Dis Primers. 2016 Oct 20;2:16080. doi: 10.1038/nrdp.2016.80. PubMed PMID: 27775730. Impact Factor Unavailable.
  2. Patel M, Isaacs CJ, Seyer L, Brigatti K, Gelbard S, Strawser C, Foerster D, Shinnick J, Schadt K, Yiu EM, Delatycki MB, Perlman S, Wilmot GR, Zesiewicz T, Mathews K, Gomez CM, Yoon G, Subramony SH, Brocht A, Farmer J, Lynch DR. Progression of Friedreich ataxia: quantitative characterization over 5 years. Ann Clin Transl Neurol. 2016 Jul 25;3(9):684-94. doi: 10.1002/acn3.332. PMID: 27648458. Impact Factor Unavailable.
  3. Balasubramaniam S, Lewis B, Mock DM, Said HM, Tarailo-Graovac M, Mattman A, van Karneebek CD, Thorburn DR, Rodenburg RJ, Christodoulou J. Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). JIMD Rep. 2016 Jul 22. [Epub ahead of print] PubMed PMID: 27450367. Impact Factor Unavailable.
  4. Nafisinia M, Guo Y, Dang X, Li J, Chen Y, Zhang J, Lake NJ, Gold WA, Riley LG, Thorburn DR, Keating B, Xu X, Hakonarson H, Christodoulou J. Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder. JIMD Rep. 2017: 32; 117-124. doi: 10.1007/8904_2016_541 PubMed PMID: 27344648. Impact Factor Unavailable.
  5. Torkamani N, Phal P, Savarirayan R, Simm P, Varigos G, Wark J. Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis. Clin Cases Miner Bone Metab. 2016 May-Aug;13(2):157-159. PMID: 27920816. Impact Factor Unavailable.
  6. Souzeau E, Burdon KP, Mackey DA, Hewitt AW, Savarirayan R, Otlowski M, Craig JE. Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research. Transl Vis Sci Technol. 2016 Feb 9;5(1):3. PMID: 26929883. Impact Factor Unavailable.
  7. Riley LG, Rudinger-Thirion J, Schmitz-Abe K, Thorburn DR, Davis RL, Teo J, Arbuckle S, Cooper ST, Campagna DR, Frugier M, Markianos K, Sue CM, Fleming MD, Christodoulou J. LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. JIMD Rep. 2016;28:49-57. PubMed PMID: 26537577; PubMed Central PMCID: PMC5059179. Impact Factor Unavailable.