Publications



Textbook Chapters (3):

    2018

  1. Harel T, Lupski JR, Lalani S. Rudolph's Textbook of Pediatrics, Chapter 166: Chromosomal and Genomic Disorders. August 30, 2018.

  2. Harel T, Lupski JR, Liu, P. Rudolph's Textbook of Pediatrics, Chapter 167: Laboratory Analysis of Copy Number and Single Nucleotide Variants. August 30, 2018.

  3. Magoulas PL, Posey JE, and Potocki L. Rudolph's Textbook of Pediatrics, Chapter 168: Online Resources for Genetic Disorders. August 30, 2018.


Articles (267):

    2011

  1. Lupski JR, Belmont JW, Boerwinkle E, Gibbs RA. Clan genomics and the complex architecture of human disease. Cell. 2011 Sep 30;147(1):32-43. doi:10.1016/j.cell.2011.09.008. PubMed: 21962505.

  2. 2012

  3. Gonzaga-Jauregui C, Lupski JR, Gibbs RA. Human genome sequencing in health and disease. Annu. Rev. Med. 2012;63:35-61. doi:10.1146/annurev-med-051010-162644. PubMed: 22248320.

  4. Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA. The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am. J. Med. Genet. A. 2012 Jul;158A(7):1523-5. doi:10.1002/ajmg.a.35470. PubMed: 22628075.

  5. Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, Yang MH, Bongers EM, Timmermans J, Braverman AC, Canham N, Mortier GR, Brunner HG, Byers PH, Van Eyk J, Van Laer L, Dietz HC, Loeys BL. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat. Genet. 2012 Jul 8;44(8):922-7. doi:10.1038/ng.2349. PubMed: 22772368.

  6. Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D, Gillis E, Mortier G, Homfray T, Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destrée A, Hennekam RC, Arn PH, Curry CJ, Van Laer L, McCallion AS, Loeys BL, Dietz HC. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat. Genet. 2012 Nov;44(11):1249-54. doi:10.1038/ng.2421. PubMed: 23023332.

  7. 2013

  8. Boone PM, Soens ZT, Campbell IM, Stankiewicz P, Cheung SW, Patel A, Beaudet AL, Plon SE, Shaw CA, McGuire AL, Lupski JR. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet. Med. 2013 Jan;15(1):45-54. doi:10.1038/gim.2012.95. PubMed: 22878507.

  9. Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA. Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Genome Med. 2013;5(6):57. doi:10.1186/gm461. PubMed: 23806086.

  10. Hamosh A, Sobreira N, Hoover-Fong J, Sutton VR, Boehm C, Schiettecatte F, Valle D. PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features. Hum. Mutat. 2013 Apr;34(4):566-71. doi:10.1002/humu.22283. PubMed: 23378291.

  11. Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, de Macena Sobreira NL, Perez AB, Fortes JA, Lampe AK, Giovannucci Uzielli ML, Gordon CT, Plessis G, Le Merrer M, Amiel J, Reichenberger E, Shively KM, Cerrato F, Labow BI, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ. Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am. J. Hum. Genet. 2013 Apr 4;92(4):621-6. doi:10.1016/j.ajhg.2013.03.002. PubMed: 23541344.

  12. Charbel Issa P, Gillies MC, Chew EY, Bird AC, Heeren TF, Peto T, Holz FG, Scholl HP. Macular telangiectasia type 2. Prog Retin Eye Res. 2013 May;34:49-77. doi:10.1016/j.preteyeres.2012.11.002. PubMed: 23219692.

  13. Cheung YH, Gayden T, Campeau PM, LeDuc CA, Russo D, Nguyen VH, Guo J, Qi M, Guan Y, Albrecht S, Moroz B, Eldin KW, Lu JT, Schwartzentruber J, Malkin D, Berghuis AM, Emil S, Gibbs RA, Burk DL, Vanstone M, Lee BH, Orchard D, Boycott KM, Chung WK, Jabado N. A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am. J. Hum. Genet. 2013 Jun 6;92(6):996-1000. doi:10.1016/j.ajhg.2013.04.026. PubMed: 23731537.

  14. Green RC, Lupski JR, Biesecker LG. Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA. 2013 Jul 24;310(4):365-6. doi:10.1001/jama.2013.41703. PubMed: 23917280.

  15. Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am. J. Hum. Genet. 2013 Aug 8;93(2):197-210. doi:10.1016/j.ajhg.2013.05.027. PubMed: 23810381.

  16. Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Köhler G, Häffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am. J. Hum. Genet. 2013 Aug 8;93(2):357-67. doi:10.1016/j.ajhg.2013.06.009. PubMed: 23849778.

  17. Boone PM, Campbell IM, Baggett BC, Soens ZT, Rao MM, Hixson PM, Patel A, Bi W, Cheung SW, Lalani SR, Beaudet AL, Stankiewicz P, Shaw CA, Lupski JR. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 Sep;23(9):1383-94. doi:10.1101/gr.156075.113. PubMed: 23685542.

  18. Carvalho CM, Pehlivan D, Ramocki MB, Fang P, Alleva B, Franco LM, Belmont JW, Hastings PJ, Lupski JR. Replicative mechanisms for CNV formation are error prone. Nat. Genet. 2013 Nov;45(11):1319-26. doi:10.1038/ng.2768. PubMed: 24056715.

  19. Vatta M, Niu Z, Lupski JR, Putnam P, Spoonamore KG, Fang P, Eng CM, Willis AS. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am. J. Med. Genet. A. 2013 Dec;161A(12):3182-6. doi:10.1002/ajmg.a.36178. PubMed: 23956205.

  20. Gonzaga-Jauregui C, Lotze T, Jamal L, Penney S, Campbell IM, Pehlivan D, Hunter JV, Woodbury SL, Raymond G, Adesina AM, Jhangiani SN, Reid JG, Muzny DM, Boerwinkle E, Lupski JR, Gibbs RA, Wiszniewski W. Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec;70(12):1491-8. doi:10.1001/jamaneurol.2013.4598. PubMed: 24126608.

  21. 2014

  22. Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan;13(1):44-58. doi:10.1016/S1474-4422(13)70265-5. PubMed: 24291220.

  23. Murali C, Lu JT, Jain M, Liu DS, Lachman R, Gibbs RA, Lee BH, Cohn D, Campeau PM. Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. Mol Genet Metab Rep. 2014;1:213-219. doi:10.1016/j.ymgmr.2014.04.004. PubMed: 25019053.

  24. Hoover-Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, Moser A, Kim OH, Cho TJ, Cho SY, Kim SJ, Jin DK, Kitoh H, Park WY, Ling H, Hetrick KN, Doheny KF, Valle D, Pauli RM. Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. Am. J. Hum. Genet. 2014 Jan 2;94(1):105-12. doi:10.1016/j.ajhg.2013.11.018. PubMed: 24387990.

  25. Reid JG, Carroll A, Veeraraghavan N, Dahdouli M, Sundquist A, English A, Bainbridge M, White S, Salerno W, Buhay C, Yu F, Muzny D, Daly R, Duyk G, Gibbs RA, Boerwinkle E. Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline. BMC Bioinformatics. 2014 Jan 29;15:30. doi:10.1186/1471-2105-15-30. PubMed: 24475911.

  26. Concepcion JP, Reh CS, Daniels M, Liu X, Paz VP, Ye H, Highland HM, Hanis CL, Greeley SA. Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6. Pediatr Diabetes. 2014 Feb;15(1):67-72. doi:10.1111/pedi.12063. PubMed: 23914949.

  27. Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA, Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP. NR2F1 mutations cause optic atrophy with intellectual disability. Am. J. Hum. Genet. 2014 Feb 6;94(2):303-9. doi:10.1016/j.ajhg.2014.01.002. PubMed: 24462372.

  28. Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, Lehman EL, Larson A, Beuten J, Muzny DM, Jhangiani S, Gibbs RA, Lupski JR, Beaudet A. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 Mar;10(3):e1004258. doi:10.1371/journal.pgen.1004258. PubMed: 24676022.

  29. Shenje LT, Andersen P, Halushka MK, Lui C, Fernandez L, Collin GB, Amat-Alarcon N, Meschino W, Cutz E, Chang K, Yonescu R, Batista DA, Chen Y, Chelko S, Crosson JE, Scheel J, Vricella L, Craig BD, Marosy BA, Mohr DW, Hetrick KN, Romm JM, Scott AF, Valle D, Naggert JK, Kwon C, Doheny KF, Judge DP. Mutations in Alström protein impair terminal differentiation of cardiomyocytes. Nat Commun. 2014 Mar 4;5:3416. doi:10.1038/ncomms4416. PubMed: 24595103.

  30. Sim JC, White SM, Fitzpatrick E, Wilson GR, Gillies G, Pope K, Mountford HS, Torring PM, McKee S, Vulto-van Silfhout AT, Jhangiani SN, Muzny DM, Leventer RJ, Delatycki MB, Amor DJ, Lockhart PJ. Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. Orphanet J Rare Dis. 2014 Mar 27;9:43. doi:10.1186/1750-1172-9-43. PubMed: 24674232.

  31. Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM, Erdin S, Isikay S, Franco LM, Gonzaga-Jauregui C, Gambin T, Gelowani V, Hunter JV, Yesil G, Koparir E, Yilmaz S, Brown M, Briskin D, Hafner M, Morozov P, Farazi TA, Bernreuther C, Glatzel M, Trattnig S, Friske J, Kronnerwetter C, Bainbridge MN, Gezdirici A, Seven M, Muzny DM, Boerwinkle E, Ozen M, Clausen T, Tuschl T, Yuksel A, Hess A, Gibbs RA, Martinez J, Penninger JM, Lupski JR. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24;157(3):636-50. doi:10.1016/j.cell.2014.02.058. PubMed: 24766809.

  32. Shalev SA, Tenenbaum-Rakover Y, Horovitz Y, Paz VP, Ye H, Carmody D, Highland HM, Boerwinkle E, Hanis CL, Muzny DM, Gibbs RA, Bell GI, Philipson LH, Greeley SA. Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. Pediatr Diabetes. 2014 May;15(3):252-6. doi:10.1111/pedi.12086. PubMed: 24138066.

  33. Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am. J. Hum. Genet. 2014 May 1;94(5):784-9. doi:10.1016/j.ajhg.2014.04.006. PubMed: 24791903.

  34. Okamoto Y, Goksungur MT, Pehlivan D, Beck CR, Gonzaga-Jauregui C, Muzny DM, Atik MM, Carvalho CMB, Matur Z, Bayraktar S, Boone PM, Akyuz K, Gibbs RA, Battaloglu E, Parman Y, Lupski JR. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet. Med. 2014 May;16(5):386-394. doi:10.1038/gim.2013.155. PubMed: 24136616.

  35. Migliavacca MP, Sobreira NL, Antonialli GP, Oliveira MM, Melaragno MI, Casteels I, de Ravel T, Brunoni D, Valle D, Perez AB. Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. Am. J. Med. Genet. A. 2014 May;164A(5):1170-4. doi:10.1002/ajmg.a.36425. PubMed: 24478002.

  36. Carvalho CM, Zuccherato LW, Williams CL, Neill NJ, Murdock DR, Bainbridge M, Jhangiani SN, Muzny DM, Gibbs RA, Ip W, Guillerman RP, Lupski JR, Bertuch AA. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med. Genet. 2014 Jun 4;15:64. doi:10.1186/1471-2350-15-64. PubMed: 24898207.

  37. Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A, Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am. J. Hum. Genet. 2014 Jun 5;94(6):915-23. doi:10.1016/j.ajhg.2014.05.005. PubMed: 24906020.

  38. Prada CE, Gonzaga-Jauregui C, Tannenbaum R, Penney S, Lupski JR, Hopkin RJ, Sutton VR. Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. Eur J Med Genet. 2014 Jul;57(7):339-344. doi:10.1016/j.ejmg.2014.04.005. PubMed: 24769197.

  39. Gonzaga-Jauregui C, Mir S, Penney S, Jhangiani S, Midgen C, Finegold M, Muzny DM, Wang M, Bacino CA, Gibbs RA, Lupski JR, Kellermayer R, Hanchard NA. Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. J. Pediatr. Gastroenterol. Nutr. 2014 Jul;59(1):17-21. doi:10.1097/MPG.0000000000000363. PubMed: 24614124.

  40. Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Rønnestad A, Osnes LT, Egeland T, Rødningen OK, Beck CR, Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am. J. Hum. Genet. 2014 Jul 3;95(1):96-107. doi:10.1016/j.ajhg.2014.05.007. PubMed: 24931394.

  41. Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wiśniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am. J. Hum. Genet. 2014 Aug 7;95(2):173-82. doi:10.1016/j.ajhg.2014.07.003. PubMed: 25087610.

  42. Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR. The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am. J. Hum. Genet. 2014 Aug 7;95(2):143-61. doi:10.1016/j.ajhg.2014.06.014. PubMed: 25065914.

  43. Bayram Y, Pehlivan D, Karaca E, Gambin T, Jhangiani SN, Erdin S, Gonzaga-Jauregui C, Wiszniewski W, Muzny D, Elcioglu NH, Yildirim MS, Bozkurt B, Zamani AG, Boerwinkle E, Gibbs RA, Lupski JR. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am. J. Med. Genet. A. 2014 Sep;164A(9):2328-34. doi:10.1002/ajmg.a.36678. PubMed: 25045128.

  44. Meloni VA, Guilherme RS, Oliveira MM, Migliavacca M, Takeno SS, Sobreira NL, de Fatima Faria Soares M, de Mello CB, Melaragno MI. Cytogenomic delineation and clinical follow-up of two siblings with an 8.5 Mb 6q24.2-q25.2 deletion inherited from a paternal insertion. Am. J. Med. Genet. A. 2014 Sep;164A(9):2378-84. doi:10.1002/ajmg.a.36631. PubMed: 24898331.

  45. Pehlivan D, Karaca E, Aydin H, Beck CR, Gambin T, Muzny DM, Bilge Geckinli B, Karaman A, Jhangiani SN, Gibbs RA, Lupski JR. Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. Eur. J. Hum. Genet. 2014 Sep;22(9):1145-8. doi:10.1038/ejhg.2013.291. PubMed: 24424126.

  46. Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LELM, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25;159(1):200-214. doi:10.1016/j.cell.2014.09.002. PubMed: 25259927.

  47. Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, Metry D, Campbell J, Sockrider MM, Dishop MK, Scollard DM, Gibbs RA, Mace EM, Orange JS, Lupski JR, Casanova JL, Noroski LM. Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. J. Clin. Immunol. 2014 Oct;34(7):871-90. doi:10.1007/s10875-014-0074-8. PubMed: 25073507.

  48. de Kock L, Sabbaghian N, Druker H, Weber E, Hamel N, Miller S, Choong CS, Gottardo NG, Kees UR, Rednam SP, van Hest LP, Jongmans MC, Jhangiani S, Lupski JR, Zacharin M, Bouron-Dal Soglio D, Huang A, Priest JR, Perry A, Mueller S, Albrecht S, Malkin D, Grundy RG, Foulkes WD. Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathol. 2014 Oct;128(4):583-95. doi:10.1007/s00401-014-1318-7. PubMed: 25022261.

  49. Campbell IM, Stewart JR, James RA, Lupski JR, Stankiewicz P, Olofsson P, Shaw CA. Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. Am. J. Hum. Genet. 2014 Oct 2;95(4):345-59. doi:10.1016/j.ajhg.2014.08.010. PubMed: 25242496.

  50. Ndu IK, Ibeziako SN, Obidike EO, Adimora GN, Edelu BO, Chinawa JM, Asinobi IN, Uleanya ND. Chest and occipito-frontal circumference measurements in the detection of low birth weight among Nigerian newborns of Igbo ethnicity. Ital J Pediatr. 2014 Oct 28;40:81. doi:10.1186/s13052-014-0081-7. PubMed: 25348818.

  51. Xie YA, Lee W, Cai C, Gambin T, Nõupuu K, Sujirakul T, Ayuso C, Jhangiani S, Muzny D, Boerwinkle E, Gibbs R, Greenstein VC, Lupski JR, Tsang SH, Allikmets R. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum. Mol. Genet. 2014 Nov 1;23(21):5774-80. doi:10.1093/hmg/ddu291. PubMed: 24916380.

  52. Bergner AL, Bollinger J, Raraigh KS, Tichnell C, Murray B, Blout CL, Telegrafi AB, James CA. Informed consent for exome sequencing research in families with genetic disease: the emerging issue of incidental findings. Am. J. Med. Genet. A. 2014 Nov;164A(11):2745-52. doi:10.1002/ajmg.a.36706. PubMed: 25251809.

  53. Carvalho CM, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte AB, Vianna-Morgante AM, Krepischi AC, Patel GS, Immken L, Aleck K, Lim C, Cheung SW, Rosenberg C, Katsanis N, Lupski JR. Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am. J. Hum. Genet. 2014 Nov 6;95(5):565-78. doi:10.1016/j.ajhg.2014.10.006. PubMed: 25439725.

  54. Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am. J. Hum. Genet. 2014 Nov 6;95(5):579-83. doi:10.1016/j.ajhg.2014.09.014. PubMed: 25439098.

  55. Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12;312(18):1870-9. doi:10.1001/jama.2014.14601. PubMed: 25326635.

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  232. Gillentine MA, White JJ, Grochowski CM, Lupski JR, Schaaf CP, Calarge CA. CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents. J Child Adolesc Psychopharmacol. 2017 Dec;27(10):908-915. doi:10.1089/cap.2017.0068. PubMed: 28817303.

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  235. Dinckan N, Du R, Petty LE, Coban-Akdemir Z, Jhangiani SN, Paine I, Baugh EH, Erdem AP, Kayserili H, Doddapaneni H, Hu J, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Uyguner ZO, Below JE, Letra A. Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. J. Dent. Res. 2018 Jan;97(1):49-59. doi:10.1177/0022034517724149. PubMed: 28813618.

  236. Sisk RA, Hufnagel RB, Laham A, Wohler ES, Sobreira N, Ahmed ZM. Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis. J Ophthalmol. 2018;2018:2984934. doi:10.1155/2018/2984934. PubMed: 30116628.

  237. Hoorntje ET, Posafalvi A, Syrris P, van der Velde KJ, Bolling MC, Protonotarios A, Boven LG, Amat-Codina N, Groeneweg JA, Wilde AA, Sobreira N, Calkins H, Hauer RNW, Jonkman MF, McKenna WJ, Elliott PM, Sinke RJ, van den Berg MP, Chelko SP, James CA, van Tintelen JP, Judge DP, Jongbloed JDH. No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy. PLoS ONE. 2018;13(8):e0203078. doi:10.1371/journal.pone.0203078. PubMed: 30161220.

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  239. Lu JG, Bishop J, Cheyette S, Zhulin IB, Guo S, Sobreira N, Brenner SE. A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures. Cold Spring Harb Mol Case Stud. 2018 Feb;4(1). doi:10.1101/mcs.a002287. PubMed: 29167286.

  240. Mealy MA, Nam TS, Pardo SJ, Pardo CA, Sobreira NL, Avramopoulos D, Valle D, Burns KH, Levy M. Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A. Neurol Genet. 2018 Feb;4(1):e213. doi:10.1212/NXG.0000000000000213. PubMed: 29473047.

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  242. Harel T, Lupski JR. Genomic disorders 20 years on-mechanisms for clinical manifestations. Clin. Genet. 2018 Mar;93(3):439-449. doi:10.1111/cge.13146. PubMed: 28950406.

  243. Carvalho DR, Medeiros JEG, Ribeiro DSM, Martins BJAF, Sobreira NLM. Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant. Eur J Med Genet. 2018 Mar;61(3):134-138. doi:10.1016/j.ejmg.2017.11.005. PubMed: 29169895.

  244. Dinckan N, Du R, Akdemir ZC, Bayram Y, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Guven Y, Aktoren O, Kayserili H, Boerwinkle E, Gibbs RA, Posey JE, Lupski JR, Uyguner ZO, Letra A. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am. J. Med. Genet. A. 2018 Apr;176(4):1015-1022. doi:10.1002/ajmg.a.38625. PubMed: 29436111.

  245. Gawliński P, Pelc M, Ciara E, Jhangiani S, Jurkiewicz E, Gambin T, Różdżyńska-Świątkowska A, Dawidziuk M, Coban-Akdemir ZH, Guilbride DL, Muzny D, Lupski JR, Krajewska-Walasek M. Phenotype expansion and development in Kosaki overgrowth syndrome. Clin. Genet. 2018 Apr;93(4):919-924. doi:10.1111/cge.13192. PubMed: 29226947.

  246. Konno H, Chinn IK, Hong D, Orange JS, Lupski JR, Mendoza A, Pedroza LA, Barber GN. Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING. Cell Rep. 2018 Apr 24;23(4):1112-1123. doi:10.1016/j.celrep.2018.03.115. PubMed: 29694889.

  247. Moreno CA, Sobreira N, Pugh E, Zhang P, Steel G, Torres FR, Cavalcanti DP. Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome. Eur. J. Hum. Genet. 2018 May;26(5):669-675. doi:10.1038/s41431-017-0055-5. PubMed: 29453416.

  248. Hwang JL, Park SY, Ye H, Sanyoura M, Pastore AN, Carmody D, Del Gaudio D, Wilson JF, Hanis CL, Liu X, Atzmon G, Glaser B, Philipson LH, Greeley SAW. FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Pediatr Diabetes. 2018 May;19(3):388-392. doi:10.1111/pedi.12612. PubMed: 29193502.

  249. Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am. J. Hum. Genet. 2018 May 3;102(5):985-994. doi:10.1016/j.ajhg.2018.03.004. PubMed: 29656860.

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