My Bibliography

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Witherspoon DJ, Marchani EE, Watkins WS, Ostler CT, Wooding SP, Anders BA, Fowlkes JD, Boissinot S, Furano AV, Ray DA, Rogers AR, Batzer MA, Jorde LB. Human population genetic structure and diversity inferred from polymorphic L1(LINE-1) and Alu insertions. Hum Hered. 2006;62(1):30-46. doi: 10.1159/000095851. Epub 2006 Sep 21. PubMed PMID: 17003565.

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Witherspoon DJ, Wooding S, Rogers AR, Marchani EE, Watkins WS, Batzer MA, Jorde LB. Genetic similarities within and between human populations. Genetics. 2007 May;176(1):351-9. doi: 10.1534/genetics.106.067355. Epub 2007 Mar 4. PubMed PMID: 17339205; PubMed Central PMCID: PMC1893020.

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Marchani EE, Rogers AR, O'Rourke DH. Brief communication: the Thule migration: rejecting population histories using computer simulation. Am J Phys Anthropol. 2007 Oct;134(2):281-4. doi: 10.1002/ajpa.20650. PubMed PMID: 17568448.

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Bulayeva KB, Marchani E, Kurbatova OL, Watkins WS, Bulayev OA, Harpending HC. Genetic bottleneck among daghestan highlanders migrating to lowlands. Central European journal of medicine. 2008; 3(4):396-405. doi: 10.2478/s11536-008-0067-1.

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Marchani EE, Watkins WS, Bulayeva K, Harpending HC, Jorde LB. Culture creates genetic structure in the Caucasus: autosomal, mitochondrial, and Y-chromosomal variation in Daghestan. BMC Genet. 2008 Jul 17;9:47. doi: 10.1186/1471-2156-9-47. PubMed PMID: 18637195; PubMed Central PMCID: PMC2488347.

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Marchani EE, Callegaro A, Daw EW, Wijsman EM. Combining information from linkage and association methods. Genet Epidemiol. 2009;33 Suppl 1(Suppl 1):S81-7. doi: 10.1002/gepi.20477. PubMed PMID: 19924706; PubMed Central PMCID: PMC2910520.

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Marchani EE, Xing J, Witherspoon DJ, Jorde LB, Rogers AR. Estimating the age of retrotransposon subfamilies using maximum likelihood. Genomics. 2009 Jul;94(1):78-82. doi: 10.1016/j.ygeno.2009.04.002. Epub 2009 Apr 18. PubMed PMID: 19379804; PubMed Central PMCID: PMC2703446.

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Marchani EE, Di Y, Choi Y, Cheung C, Su M, Boehm F, Thompson EA, Wijsman EM. Contrasting identity-by-descent estimators, association studies, and linkage analyses using the Framingham Heart Study data. BMC Proc. 2009 Dec 15;3 Suppl 7(Suppl 7):S102. doi: 10.1186/1753-6561-3-s7-s102. PubMed PMID: 20017966; PubMed Central PMCID: PMC2795873.

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Yu CE, Marchani E, Nikisch G, Müller U, Nolte D, Hertel A, Wijsman EM, Bird TD. The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease. Arch Neurol. 2010 May;67(5):631-3. doi: 10.1001/archneurol.2010.87. PubMed PMID: 20457965; PubMed Central PMCID: PMC3016011.

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Marchani EE, Bird TD, Steinbart EJ, Rosenthal E, Yu CE, Schellenberg GD, Wijsman EM. Evidence for three loci modifying age-at-onset of Alzheimer's disease in early-onset PSEN2 families. Am J Med Genet B Neuropsychiatr Genet. 2010 Jul;153B(5):1031-41. doi: 10.1002/ajmg.b.31072. PubMed PMID: 20333730; PubMed Central PMCID: PMC3022037.

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Choi Y, Marchani EE, Bird TD, Steinbart EJ, Blacker D, Wijsman EM. Genome scan of age-at-onset in the NIMH Alzheimer disease sample uncovers multiple loci, along with evidence of both genetic and sample heterogeneity. Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(7):785-98. doi: 10.1002/ajmg.b.31220. Epub 2011 Aug 2. PubMed PMID: 21812099; PubMed Central PMCID: PMC3168696.

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Marchani EE, Wijsman EM. Estimation and visualization of identity-by-descent within pedigrees simplifies interpretation of complex trait analysis. Hum Hered. 2011;72(4):289-97. doi: 10.1159/000334083. Epub 2011 Dec 23. PubMed PMID: 22189471; PubMed Central PMCID: PMC3267995.

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Zhao W, Marchani EE, Cheung CY, Steinbart EJ, Schellenberg GD, Bird TD, Wijsman EM. Genome scan in familial late-onset Alzheimer's disease: a locus on chromosome 6 contributes to age-at-onset. Am J Med Genet B Neuropsychiatr Genet. 2013 Mar;162B(2):201-12. doi: 10.1002/ajmg.b.32133. Epub 2013 Jan 25. PubMed PMID: 23355194; PubMed Central PMCID: PMC3654841.

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Marchani EE, Chapman NH, Cheung CY, Ankenman K, Stanaway IB, Coon HH, Nickerson D, Bernier R, Brkanac Z, Wijsman EM. Identification of rare variants from exome sequence in a large pedigree with autism. Hum Hered. 2012;74(3-4):153-64. doi: 10.1159/000346560. Epub 2013 Apr 11. PubMed PMID: 23594493; PubMed Central PMCID: PMC3722055.

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Cheung CY, Marchani Blue E, Wijsman EM. A statistical framework to guide sequencing choices in pedigrees. Am J Hum Genet. 2014 Feb 6;94(2):257-67. doi: 10.1016/j.ajhg.2014.01.005. PubMed PMID: 24507777; PubMed Central PMCID: PMC3928665.

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Blue EM, Cheung CY, Glazner CG, Conomos MP, Lewis SM, Sverdlov S, Thornton T, Wijsman EM. Identity-by-descent graphs offer a flexible framework for imputation and both linkage and association analyses. BMC Proc. 2014;8(Suppl 1 Genetic Analysis Workshop 18Vanessa Olmo):S19. doi: 10.1186/1753-6561-8-S1-S19. eCollection 2014. PubMed PMID: 25519371; PubMed Central PMCID: PMC4143703.

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Thornton T, Conomos MP, Sverdlov S, Blue EM, Cheung CY, Glazner CG, Lewis SM, Wijsman EM. Estimating and adjusting for ancestry admixture in statistical methods for relatedness inference, heritability estimation, and association testing. BMC Proc. 2014;8(Suppl 1):S5. doi: 10.1186/1753-6561-8-S1-S5. eCollection 2014. PubMed PMID: 25519330; PubMed Central PMCID: PMC4143704.

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Blue EM, Sun L, Tintle NL, Wijsman EM. Value of Mendelian laws of segregation in families: data quality control, imputation, and beyond. Genet Epidemiol. 2014 Sep;38 Suppl 1(0 1):S21-8. doi: 10.1002/gepi.21821. PubMed PMID: 25112184; PubMed Central PMCID: PMC4135526.

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Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. Am J Hum Genet. 2015 Mar 5;96(3):462-73. doi: 10.1016/j.ajhg.2015.01.003. Epub 2015 Feb 12. PubMed PMID: 25683120; PubMed Central PMCID: PMC4375444.

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Cogan JD, Kropski JA, Zhao M, Mitchell DB, Rives L, Markin C, Garnett ET, Montgomery KH, Mason WR, McKean DF, Powers J, Murphy E, Olson LM, Choi L, Cheng DS, Blue EM, Young LR, Lancaster LH, Steele MP, Brown KK, Schwarz MI, Fingerlin TE, Schwartz DA, Lawson WE, Loyd JE, Zhao Z, Phillips JA 3rd, Blackwell TS. Rare variants in RTEL1 are associated with familial interstitial pneumonia. Am J Respir Crit Care Med. 2015 Mar 15;191(6):646-55. doi: 10.1164/rccm.201408-1510OC. PubMed PMID: 25607374; PubMed Central PMCID: PMC4384777.

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Rosenthal E, Blue E, Jarvik GP. Next-generation gene discovery for variants of large impact on lipid traits. Curr Opin Lipidol. 2015 Apr;26(2):114-9. doi: 10.1097/MOL.0000000000000156. Review. PubMed PMID: 25636063; PubMed Central PMCID: PMC4388051.

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Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA, Bamshad MJ. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet. 2015 May 7;96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004. PubMed PMID: 25957469; PubMed Central PMCID: PMC4570285.

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Garg A, Kircher M, Del Campo M, Amato RS, Agarwal AK. Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. Am J Med Genet A. 2015 Aug;167A(8):1796-806. doi: 10.1002/ajmg.a.37115. Epub 2015 Apr 21. PubMed PMID: 25898808; PubMed Central PMCID: PMC5086082.

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Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. PubMed PMID: 26092869; PubMed Central PMCID: PMC5082428.

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Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13. PubMed PMID: 26167768; PubMed Central PMCID: PMC4536769.

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Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA, Bamshad MJ. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 Aug 6;97(2):199-215. doi: 10.1016/j.ajhg.2015.06.009. Epub 2015 Jul 9. Review. PubMed PMID: 26166479; PubMed Central PMCID: PMC4573249.

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Bachmann-Gagescu R, Phelps IG, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, Wilson M, Marques Lourenço C, Arslan M, Shendure J, Doherty D. KIAA0586 is Mutated in Joubert Syndrome. Hum Mutat. 2015 Sep;36(9):831-5. doi: 10.1002/humu.22821. Epub 2015 Jul 2. PubMed PMID: 26096313; PubMed Central PMCID: PMC4537327.

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Chapman NH, Nato AQ Jr, Bernier R, Ankenman K, Sohi H, Munson J, Patowary A, Archer M, Blue EM, Webb SJ, Coon H, Raskind WH, Brkanac Z, Wijsman EM. Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes. Hum Genet. 2015 Oct;134(10):1055-68. doi: 10.1007/s00439-015-1585-y. Epub 2015 Jul 24. PubMed PMID: 26204995; PubMed Central PMCID: PMC4578871.

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Ansar M, Raza SI, Lee K, Irfanullah, Shahi S, Acharya A, Dai H, Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Santos-Cortez RL, Ahmad W, Leal SM. A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. J Med Genet. 2015 Oct;52(10):676-80. doi: 10.1136/jmedgenet-2015-103255. Epub 2015 Jul 9. PubMed PMID: 26160856; PubMed Central PMCID: PMC5090258.

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Lee H, Nevarez L, Lachman RS, Wilcox WR, Krakow D, Cohn DH. A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1). Am J Med Genet A. 2015 Oct;167A(10):2470-3. doi: 10.1002/ajmg.a.37173. Epub 2015 May 22. PubMed PMID: 25997753; PubMed Central PMCID: PMC5036935.

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Shahzad M, Sires Campos J, Tariq N, Herraiz Serrano C, Yousaf R, Jiménez-Cervantes C, Yousaf S, Waryah YM, Dad HA, Blue EM, Sobreira N, López-Giráldez F, Kausar T, Ali M, Waryah AM, Riazuddin S, Shaikh RS, García-Borrón JC, Ahmed ZM. Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population. Pigment Cell Melanoma Res. 2015 Nov;28(6):730-5. doi: 10.1111/pcmr.12400. Epub 2015 Sep 22. PubMed PMID: 26197705; PubMed Central PMCID: PMC4609612.

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Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, Wong JT, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH. Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Hum Mutat. 2015 Nov;36(11):1048-51. doi: 10.1002/humu.22856. Epub 2015 Aug 27. PubMed PMID: 26264460; PubMed Central PMCID: PMC4604052.

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Yousaf S, Shahzad M, Kausar T, Sheikh SA, Tariq N, Shabbir AS, Ali M, Waryah AM, Shaikh RS, Riazuddin S, Ahmed ZM. Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population. Pigment Cell Melanoma Res. 2016 Mar;29(2):231-5. doi: 10.1111/pcmr.12438. Epub 2015 Dec 18. PubMed PMID: 26575419; PubMed Central PMCID: PMC5062593.

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Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJM, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RCM, Chung B, Lehman A, Su J, Ng S, Amor DJ, 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):579-587. doi: 10.1016/j.ajhg.2016.02.006. PubMed PMID: 26942290; PubMed Central PMCID: PMC4800051.

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Peter B, Wijsman EM, Nato AQ Jr, Matsushita MM, Chapman KL, Stanaway IB, Wolff J, Oda K, Gabo VB, Raskind WH. Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. PLoS One. 2016;11(4):e0153864. doi: 10.1371/journal.pone.0153864. eCollection 2016. PubMed PMID: 27120335; PubMed Central PMCID: PMC4847873.

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Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G, Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bézieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21. PubMed PMID: 27108799; PubMed Central PMCID: PMC4863562.

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Regalado ES, Guo DC, Santos-Cortez RL, Hostetler E, Bensend TA, Pannu H, Estrera A, Safi H, Mitchell AL, Evans JP, Leal SM, Bamshad M, Shendure J, Nickerson DA, Milewicz DM. Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. Clin Genet. 2016 Jun;89(6):719-23. doi: 10.1111/cge.12702. Epub 2016 Jan 20. PubMed PMID: 26621581; PubMed Central PMCID: PMC4873375.

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Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ, Duffourd Y, Faivre L, Rivière JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 Jun;48(6):648-56. doi: 10.1038/ng.3558. Epub 2016 May 9. PubMed PMID: 27158779; PubMed Central PMCID: PMC4978421.

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Aylward A, Cai Y, Lee A, Blue E, Rabinowitz D, Haddad J Jr. Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate. Genet Epidemiol. 2016 Jul;40(5):432-41. doi: 10.1002/gepi.21972. Epub 2016 May 27. PubMed PMID: 27229527; PubMed Central PMCID: PMC4985012.

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Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC, Matthijs G, Freeze HH. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21. PubMed PMID: 26931382; PubMed Central PMCID: PMC4907823.

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Staples J, Witherspoon DJ, Jorde LB, Nickerson DA, Below JE, Huff CD. PADRE: Pedigree-Aware Distant-Relationship Estimation. Am J Hum Genet. 2016 Jul 7;99(1):154-62. doi: 10.1016/j.ajhg.2016.05.020. Epub 2016 Jun 30. PubMed PMID: 27374771; PubMed Central PMCID: PMC5005450.

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Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ, Duffourd Y, Faivre L, Rivière JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB. Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 Jul 27;48(8):970. doi: 10.1038/ng0816-970b. PubMed PMID: 27463398.

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Rosenthal EA, Makaryan V, Burt AA, Crosslin DR, Kim DS, Smith JD, Nickerson DA, Reiner AP, Rich SS, Jackson RD, Ganesh SK, Polfus LM, Qi L, Dale DC, Jarvik GP. Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project. Genet Epidemiol. 2016 Sep;40(6):470-4. doi: 10.1002/gepi.21976. Epub 2016 May 27. PubMed PMID: 27229898; PubMed Central PMCID: PMC5079157.

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Kim JH, Shinde DN, Reijnders MRF, Hauser NS, Belmonte RL, Wilson GR, Bosch DGM, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CTRM, Draaisma JM, Nicolai J, Yntema HG, Lindstrom K, de Vries BBA, Jewett T, Santoro SL, Vogt J, Bachman KK, Seeley AH, Krokosky A, Turner C, Rohena L, Hempel M, Kortüm F, Lessel D, Neu A, Strom TM, Wieczorek D, Bramswig N, Laccone FA, Behunova J, Rehder H, Gordon CT, Rio M, Romana S, Tang S, El-Khechen D, Cho MT, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann APA, Stevens SJC, Zhang DE, Traver D, Yao X, MacArthur DG, Brunner HG, Mancini GM, Myers RM, Owen LB, Lim ST, Stachura DL, Vissers LELM, Ahn EYE. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. Am J Hum Genet. 2016 Sep 1;99(3):711-719. doi: 10.1016/j.ajhg.2016.06.029. Epub 2016 Aug 18. PubMed PMID: 27545680; PubMed Central PMCID: PMC5011044.

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Paige Taylor S, Kunova Bosakova M, Varecha M, Balek L, Barta T, Trantirek L, Jelinkova I, Duran I, Vesela I, Forlenza KN, Martin JH, Hampl A, Bamshad M, Nickerson D, Jaworski ML, Song J, Ko HW, Cohn DH, Krakow D, Krejci P. An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. Hum Mol Genet. 2016 Sep 15;25(18):3998-4011. doi: 10.1093/hmg/ddw240. Epub 2016 Jul 27. PubMed PMID: 27466187; PubMed Central PMCID: PMC5291234.

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Zhang W, Taylor SP, Nevarez L, Lachman RS, Nickerson DA, Bamshad M, Krakow D, Cohn DH. IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. Hum Mol Genet. 2016 Sep 15;25(18):4012-4020. doi: 10.1093/hmg/ddw241. Epub 2016 Jul 27. PubMed PMID: 27466190; PubMed Central PMCID: PMC5291235.

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Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 6;99(4):831-845. doi: 10.1016/j.ajhg.2016.08.007. Epub 2016 Sep 15. PubMed PMID: 27640307; PubMed Central PMCID: PMC5065660.

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Blue EM, Brown LA, Conomos MP, Kirk JL, Nato AQ Jr, Popejoy AB, Raffa J, Ranola J, Wijsman EM, Thornton T. Estimating relationships between phenotypes and subjects drawn from admixed families. BMC Proc. 2016;10(Suppl 7):357-362. doi: 10.1186/s12919-016-0056-3. eCollection 2016. PubMed PMID: 27980662; PubMed Central PMCID: PMC5133521.

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Saad M, Nato AQ Jr, Grimson FL, Lewis SM, Brown LA, Blue EM, Thornton TA, Thompson EA, Wijsman EM. Identity-by-descent estimation with population- and pedigree-based imputation in admixed family data. BMC Proc. 2016;10(Suppl 7):295-301. doi: 10.1186/s12919-016-0046-5. eCollection 2016. PubMed PMID: 27980652; PubMed Central PMCID: PMC5133511.

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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, 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 Dec 1;99(6):1229-1244. doi: 10.1016/j.ajhg.2016.09.021. Epub 2016 Nov 3. PubMed PMID: 27817865; PubMed Central PMCID: PMC5142118.