Publications

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2018
Gawliński P, Pelc M, Ciara E, Jhangiani S, Jurkiewicz E, Gambin T, Różdżyńska-Świątkowska A, Dawidziuk M, Coban-Akdemir ZH, Guilbride DL, Muzny DM, Lupski JR, Krajewska-Walasek M. Phenotype expansion and development in Kosaki overgrowth syndrome. Clin Genet. 2018 ;93(4):919-924.
Karaca E, Posey JE, Akdemir ZCoban, Pehlivan D, Harel T, Jhangiani SN, Bayram Y, Song X, Bahrambeigi V, Yuregir OOzalp, Bozdogan S, Yesil G, Isikay S, Muzny DM, Gibbs RA, Lupski JR. Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 ;.
Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee Y-C, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P. Phenotypic expansion in - a common cause of intellectual disability in females. Ann Clin Transl Neurol. 2018 ;5(10):1277-1285.
Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez-Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 ;176(6):1315-1326.
Song X, Beck CR, Du R, Campbell IM, Coban-Akdemir Z, Gu S, Breman AM, Stankiewicz P, Ira G, Shaw CA, Lupski JR. Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements. Genome Res. 2018 ;.
Callaway DA, Campbell IM, Stover SR, Hernandez-Garcia A, Jhangiani SN, Punetha J, Paine IS, Posey JE, Muzny DM, Lally KP, Lupski JR, Shaw CA, Fernandes CJ, Scott DA. Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm. J Pediatr Genet. 2018 ;7(4):164-173.
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 ;23(4):1112-1123.
Jordan VK, Beck TF, Hernandez-Garcia A, Kundert PN, Kim B-J, Jhangiani SN, Gambin T, Starkovich M, Punetha J, Paine IS, Posey JE, Li AH, Muzny DM, Hsu C-W, Lashua AJ, Sun X, Fernandes CJ, Dickinson ME, Lally KP, Gibbs RA, Boerwinkle E, Lupski JR, Scott DA. The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet. 2018 ;27(12):2064-2075.
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 ZCoban, 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, Hollander Nden, 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, R Kooy F, 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 ;102(5):985-994.
White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EYilmaz, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HGurhan, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BMerfort, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA, Brunner HG, V Sutton R, Lupski JR, Carvalho CMB. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 ;102(1):27-43.
Trivellin G, Sharwood E, Hijazi H, Carvalho CMB, Yuan B, Tatton-Brown K, Coman D, Lupski JR, Cotterill AM, Lodish MB, Stratakis CA. Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus. J Endocr Soc. 2018 ;2(10):1100-1108.
2017
Falah N, Posey JE, Thorson W, Benke P, Tekin M, Tarshish B, Lupski JR, Harel T. 22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Am J Med Genet A. 2017 ;173(4):1066-1070.
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 ;.
Scott DA, Hernandez-Garcia A, Azamian MS, Jordan VK, Kim BJun, Starkovich M, Zhang J, Wong L-J, Darilek SA, Breman AM, Yang Y, Lupski JR, Jiwani AK, Das B, Lalani SR, Iglesias AD, Rosenfeld JA, Xia F. Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. J Med Genet. 2017 ;54(1):47-53.
Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont M-L, Cho MT, Roeder E, Denommé-Pichon A-S, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HAF, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel P-M, Golzio C, Bézieau S, Stankiewicz P, Isidor B. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 ;100(2):352-363.
Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K, Brunner HG, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, Kreienkamp H-J. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2017 ;101(5):716-724.
Tcw J, Carvalho CMB, Yuan B, Gu S, Altheimer AN, McCarthy S, Malhotra D, Sebat J, Siegel AJ, Rudolph U, Lupski JR, Levy DL, Brennand KJ. Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis. Stem Cell Reports. 2017 ;8(3):519-528.
Posey JE, Martinez R, Lankford JE, Lupski JR, Numan MT, Butler IJ. Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance. Pediatr Neurol. 2017 ;66:53-58.e5.
Jehee FS, de Oliveira VT, Gurgel-Giannetti J, Pietra RX, Rubatino FVM, Carobin NV, Vianna GS, de Freitas ML, Fernandes KS, Ribeiro BSV, Brüggenwirth HT, Ali-Amin R, White JJ, Akdemir ZC, Jhangiani SN, Gibbs RA, Lupski JR, Varela MC, Koiffmann C, Rosenberg C, Carvalho CMB. Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. Am J Med Genet A. 2017 ;173(9):2451-2455.
Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MAl, Alswaid A, Al-Gazali L, Shamsi AMAl, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon A-S, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SWai, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P. Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 ;136(8):1009-1011.
Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, V Sutton R, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny DM, Lupski JR, Gibbs RA, Lewis RAlan, Lee BH, Lalani SR, Campeau PM. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud. 2017 ;3(2):a000984.
Pedroza LAlberto, Guerrero N, Stray-Pedersen A, Tafur C, Macias R, Muñoz G, Akdemir ZCoban, Jhangiani SN, Watkin LB, Chinn IK, Lupski JR, Orange JS. First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis. Front Pediatr. 2017 ;5:17.
Harel T, Lupski JR. Genomic disorders 20 years on-mechanisms for clinical manifestations. Clin Genet. 2017 ;.
Wang X, Charng W-L, Chen C-A, Rosenfeld JA, Shamsi AAl, Al-Gazali L, McGuire M, Mew NAh, Arnold GL, Qu C, Ding Y, Muzny DM, Gibbs RA, Eng CM, Walkiewicz M, Xia F, Plon SE, Lupski JR, Schaaf CP, Yang Y. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 ;49(4):613-617.
Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MAl, Alswaid A, Al-Gazali L, Shamsi AMAl, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon A-S, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SWai, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 ;136(4):377-386.