Publications for 2016 (94 Total)

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.

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.

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.

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.

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.

Publications with Impact Factors Unavailable

  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.