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Items: 1 to 50 of 53

1.

Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.

Zhu N, Pauciulo MW, Welch CL, Lutz KA, Coleman AW, Gonzaga-Jauregui C, Wang J, Grimes JM, Martin LJ, He H; PAH Biobank Enrolling Centers’ Investigators, Shen Y, Chung WK, Nichols WC.

Genome Med. 2019 Nov 14;11(1):69. doi: 10.1186/s13073-019-0685-z.

2.

A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature.

Sagi-Dain L, Kurolap A, Ilivitzki A, Mory A, Paperna T; Regeneron Genetics Center, Kedar R, Gonzaga-Jauregui C, Peleg A, Baris Feldman H.

Am J Med Genet A. 2019 Nov 7. doi: 10.1002/ajmg.a.61404. [Epub ahead of print]

PMID:
31697046
3.

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.

Horn S, Au M, Basel-Salmon L, Bayrak-Toydemir P, Chapin A, Cohen L, Elting MW, Graham JM, Gonzaga-Jauregui C, Konen O, Holzer M, Lemke J, Miller CE, Rey LK, Wolf NI, Weiss MM, Waisfisz Q, Mirzaa GM, Wieczorek D, Sticht H, Abou Jamra R.

Brain. 2019 Nov 1;142(11):3351-3359. doi: 10.1093/brain/awz264.

4.

Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency.

Toledano H, Orenstein N, Sofrin E, Ruhrman-Shahar N, Amarilyo G, Basel-Salmon L, Shuldiner AR, Smirin-Yosef P, Aronson M, Al-Tarrah H, Bazak L, Gonzaga-Jauregui C, Tabori U, Wimmer K, Goldberg Y.

J Med Genet. 2019 Sep 9. pii: jmedgenet-2019-106303. doi: 10.1136/jmedgenet-2019-106303. [Epub ahead of print]

PMID:
31501241
5.

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.

Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR.

Hum Mutat. 2019 Aug 26. doi: 10.1002/humu.23902. [Epub ahead of print]

PMID:
31448840
6.

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.

Bend R, Cohen L, Carter MT, Lyons MJ, Niyazov D, Mikati MA, Rojas SK, Person RE, Si Y, Wentzensen IM; Regeneron Genetics Center, Torti E, Lee JA, Boycott KM, Basel-Salmon L, Ferreira CR, Gonzaga-Jauregui C.

Eur J Hum Genet. 2019 Aug 8. doi: 10.1038/s41431-019-0487-1. [Epub ahead of print]

PMID:
31395947
7.

A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.

Kurolap A, Eshach Adiv O, Konnikova L, Werner L, Gonzaga-Jauregui C, Steinberg M, Mitsialis V, Mory A, Nunberg MY, Wall S, Shaoul R, Overton JD; Regeneron Genetics Center, Shuldiner AR, Zohar Y, Paperna T, Snapper SB, Shouval DS, Baris Feldman H.

J Clin Immunol. 2019 May;39(4):430-439. doi: 10.1007/s10875-019-00631-6. Epub 2019 May 11.

PMID:
31079270
8.

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4.

Hershkovitz T, Kurolap A, Gonzaga-Jauregui C, Paperna T, Mory A, Wolf SE; Regeneron Genetics Center, Overton JD, Shuldiner AR, Saada A, Mandel H, Baris Feldman H.

J Hum Genet. 2019 Jun;64(6):589-595. doi: 10.1038/s10038-019-0592-6. Epub 2019 Mar 22.

PMID:
30903008
9.

Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.

Paperna T, Sharon-Shwartzman N, Kurolap A, Goldberg Y, Moustafa N, Carasso Y, Feinstien M, Mory A, Reznick-Levi G, Gonzaga-Jauregui C, Shuldiner AR, Basel-Salmon L, Ofran Y, Half EE, Baris Feldman H.

J Med Genet. 2019 Mar 11. pii: jmedgenet-2018-105824. doi: 10.1136/jmedgenet-2018-105824. [Epub ahead of print]

PMID:
30858171
10.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P.

Am J Hum Genet. 2019 Feb 7;104(2):213-228. doi: 10.1016/j.ajhg.2018.12.010. Epub 2019 Jan 10.

11.

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Morimoto M, Waller-Evans H, Ammous Z, Song X, Strauss KA, Pehlivan D, Gonzaga-Jauregui C, Puffenberger EG, Holst CR, Karaca E, Brigatti KW, Maguire E, Coban-Akdemir ZH, Amagata A, Lau CC, Chepa-Lotrea X, Macnamara E, Tos T, Isikay S, Nehrebecky M, Overton JD, Klein M, Markello TC, Posey JE, Adams DR, Lloyd-Evans E, Lupski JR, Gahl WA, Malicdan MCV.

Am J Hum Genet. 2018 Nov 1;103(5):794-807. doi: 10.1016/j.ajhg.2018.09.014. Epub 2018 Oct 25.

12.

Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.

Bohnen MS, Ma L, Zhu N, Qi H, McClenaghan C, Gonzaga-Jauregui C, Dewey FE, Overton JD, Reid JG, Shuldiner AR, Baras A, Sampson KJ, Bleda M, Hadinnapola C, Haimel M, Bogaard HJ, Church C, Coghlan G, Corris PA, Eyries M, Gibbs JSR, Girerd B, Houweling AC, Humbert M, Guignabert C, Kiely DG, Lawrie A, MacKenzie Ross RV, Martin JM, Montani D, Peacock AJ, Pepke-Zaba J, Soubrier F, Suntharalingam J, Toshner M, Treacy CM, Trembath RC, Vonk Noordegraaf A, Wharton J, Wilkins MR, Wort SJ, Yates K, Gräf S, Morrell NW, Krishnan U, Rosenzweig EB, Shen Y, Nichols CG, Kass RS, Chung WK.

Circ Genom Precis Med. 2018 Oct;11(10):e002087. doi: 10.1161/CIRCGEN.118.002087.

13.

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.

Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder MA, Kandula VVR, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, Baras A, Miles L, Radhakrishnan K, Carson VJ, Antonellis A, Jinks RN, Strauss KA.

Hum Mol Genet. 2019 Feb 15;28(4):525-538. doi: 10.1093/hmg/ddy344.

PMID:
30304524
14.

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.

Zhu N, Welch CL, Wang J, Allen PM, Gonzaga-Jauregui C, Ma L, King AK, Krishnan U, Rosenzweig EB, Ivy DD, Austin ED, Hamid R, Pauciulo MW, Lutz KA, Nichols WC, Reid JG, Overton JD, Baras A, Dewey FE, Shen Y, Chung WK.

Genome Med. 2018 Jul 20;10(1):56. doi: 10.1186/s13073-018-0566-x.

15.

Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype.

Kurolap A, Eshach-Adiv O, Gonzaga-Jauregui C, Dolnikov K, Mory A, Paperna T, Hershkovitz T, Overton JD, Kaplan M, Glaser F, Zohar Y, Shuldiner AR, Berger G, Baris HN.

J Med Genet. 2018 Nov;55(11):779-784. doi: 10.1136/jmedgenet-2018-105299. Epub 2018 Jun 6.

PMID:
29875123
16.

Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.

Staples J, Maxwell EK, Gosalia N, Gonzaga-Jauregui C, Snyder C, Hawes A, Penn J, Ulloa R, Bai X, Lopez AE, Van Hout CV, O'Dushlaine C, Teslovich TM, McCarthy SE, Balasubramanian S, Kirchner HL, Leader JB, Murray MF, Ledbetter DH, Shuldiner AR, Yancoupolos GD, Dewey FE, Carey DJ, Overton JD, Baras A, Habegger L, Reid JG.

Am J Hum Genet. 2018 May 3;102(5):874-889. doi: 10.1016/j.ajhg.2018.03.012.

17.

Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.

Zhu N, Gonzaga-Jauregui C, Welch CL, Ma L, Qi H, King AK, Krishnan U, Rosenzweig EB, Ivy DD, Austin ED, Hamid R, Nichols WC, Pauciulo MW, Lutz KA, Sawle A, Reid JG, Overton JD, Baras A, Dewey F, Shen Y, Chung WK.

Circ Genom Precis Med. 2018 Apr;11(4):e001887. doi: 10.1161/CIRCGEN.117.001887.

18.

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.

Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG.

Am J Hum Genet. 2017 Dec 7;101(6):985-994. doi: 10.1016/j.ajhg.2017.10.006. Epub 2017 Nov 30.

19.

Genomic diagnostics within a medically underserved population: efficacy and implications.

Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG.

Genet Med. 2018 Jan;20(1):31-41. doi: 10.1038/gim.2017.76. Epub 2017 Jul 20.

PMID:
28726809
20.

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.

Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM.

Cold Spring Harb Mol Case Stud. 2017 Mar;3(2):a000984. doi: 10.1101/mcs.a000984.

21.

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.

Liu P, Yuan B, Carvalho CMB, Wuster A, Walter K, Zhang L, Gambin T, Chong Z, Campbell IM, Coban Akdemir Z, Gelowani V, Writzl K, Bacino CA, Lindsay SJ, Withers M, Gonzaga-Jauregui C, Wiszniewska J, Scull J, Stankiewicz P, Jhangiani SN, Muzny DM, Zhang F, Chen K, Gibbs RA, Rautenstrauss B, Cheung SW, Smith J, Breman A, Shaw CA, Patel A, Hurles ME, Lupski JR.

Cell. 2017 Feb 23;168(5):830-842.e7. doi: 10.1016/j.cell.2017.01.037.

22.

Genetic identification of familial hypercholesterolemia within a single U.S. health care system.

Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, O'Dushlaine C, Leader JB, Lester Kirchner H, Lindbuchler DM, Barr ML, Giovanni MA, Ritchie MD, Overton JD, Reid JG, Metpally RP, Wardeh AH, Borecki IB, Yancopoulos GD, Baras A, Shuldiner AR, Gottesman O, Ledbetter DH, Carey DJ, Dewey FE, Murray MF.

Science. 2016 Dec 23;354(6319). pii: aaf7000. doi: 10.1126/science.aaf7000.

PMID:
28008010
23.

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, O'Dushlaine C, Van Hout CV, Staples J, Gonzaga-Jauregui C, Metpally R, Pendergrass SA, Giovanni MA, Kirchner HL, Balasubramanian S, Abul-Husn NS, Hartzel DN, Lavage DR, Kost KA, Packer JS, Lopez AE, Penn J, Mukherjee S, Gosalia N, Kanagaraj M, Li AH, Mitnaul LJ, Adams LJ, Person TN, Praveen K, Marcketta A, Lebo MS, Austin-Tse CA, Mason-Suares HM, Bruse S, Mellis S, Phillips R, Stahl N, Murphy A, Economides A, Skelding KA, Still CD, Elmore JR, Borecki IB, Yancopoulos GD, Davis FD, Faucett WA, Gottesman O, Ritchie MD, Shuldiner AR, Reid JG, Ledbetter DH, Baras A, Carey DJ.

Science. 2016 Dec 23;354(6319). pii: aaf6814. doi: 10.1126/science.aaf6814.

PMID:
28008009
24.

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.

Boone PM, Yuan B, Gu S, Ma Z, Gambin T, Gonzaga-Jauregui C, Jain M, Murdock TJ, White JJ, Jhangiani SN, Walker K, Wang Q, Muzny DM, Gibbs RA, Hejtmancik JF, Lupski JR, Posey JE, Lewis RA.

Mol Genet Genomic Med. 2015 Nov 14;4(1):77-94. doi: 10.1002/mgg3.181. eCollection 2016 Jan.

25.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS, Aktas D, Alikaşifoğlu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR.

Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.

26.

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Czesnik D, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, Sereda MW, Lupski JR.

Genet Med. 2016 May;18(5):443-51. doi: 10.1038/gim.2015.124. Epub 2015 Sep 17.

27.

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Koenig M, Willer J, Flores BN, Pediaditrakis I, Us O, Wiszniewski W, Parman Y, Antonellis A, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics, Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR.

Cell Rep. 2015 Aug 18;12(7):1169-83. doi: 10.1016/j.celrep.2015.07.023. Epub 2015 Aug 6.

28.

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.

Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C; Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK.

Nat Genet. 2015 Jun;47(6):654-60. doi: 10.1038/ng.3279. Epub 2015 Apr 20.

29.

Assessing structural variation in a personal genome-towards a human reference diploid genome.

English AC, Salerno WJ, Hampton OA, Gonzaga-Jauregui C, Ambreth S, Ritter DI, Beck CR, Davis CF, Dahdouli M, Ma S, Carroll A, Veeraraghavan N, Bruestle J, Drees B, Hastie A, Lam ET, White S, Mishra P, Wang M, Han Y, Zhang F, Stankiewicz P, Wheeler DA, Reid JG, Muzny DM, Rogers J, Sabo A, Worley KC, Lupski JR, Boerwinkle E, Gibbs RA.

BMC Genomics. 2015 Apr 11;16:286. doi: 10.1186/s12864-015-1479-3.

30.

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OO, Al Rubeaan K, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM, Aydin H, Geckinli BB, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR.

J Clin Invest. 2015 Feb;125(2):636-51. doi: 10.1172/JCI77435. Epub 2015 Jan 9.

31.

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

Bayram Y, Pehlivan D, Karaca E, Gambin T, Jhangiani SN, Erdin S, Gonzaga-Jauregui C, Wiszniewski W, Muzny D; Baylor-Hopkins Center for Mendelian Genomics, Elcioglu NH, Yildirim MS, Bozkurt B, Zamani AG, Boerwinkle E, Gibbs RA, Lupski JR.

Am J Med Genet A. 2014 Sep;164A(9):2328-34. doi: 10.1002/ajmg.a.36678. Epub 2014 Jul 14.

32.

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.

Gonzaga-Jauregui C, Gamble CN, Yuan B, Penney S, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Hecht JT.

Eur J Hum Genet. 2015 Mar;23(3):342-6. doi: 10.1038/ejhg.2014.107. Epub 2014 Jul 2.

33.

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

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; UK10K; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR.

Am J Hum Genet. 2014 Jun 5;94(6):915-23. doi: 10.1016/j.ajhg.2014.05.005.

34.

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.

Prada CE, Gonzaga-Jauregui C, Tannenbaum R, Penney S, Lupski JR, Hopkin RJ, Sutton VR.

Eur J Med Genet. 2014 Jul;57(7):339-344. doi: 10.1016/j.ejmg.2014.04.005. Epub 2014 Apr 24.

35.

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.

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; Baylor Hopkins Center for Mendelian Genomics, Clausen T, Tuschl T, Yuksel A, Hess A, Gibbs RA, Martinez J, Penninger JM, Lupski JR.

Cell. 2014 Apr 24;157(3):636-50. doi: 10.1016/j.cell.2014.02.058.

36.

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

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; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Lupski JR, Beaudet A.

PLoS Genet. 2014 Mar 27;10(3):e1004258. doi: 10.1371/journal.pgen.1004258. eCollection 2014 Mar.

37.

Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.

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.

J Pediatr Gastroenterol Nutr. 2014 Jul;59(1):17-21. doi: 10.1097/MPG.0000000000000363.

38.

NR2F1 mutations cause optic atrophy with intellectual disability.

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; Baylor-Hopkins Center for Mendelian Genomics, Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP.

Am J Hum Genet. 2014 Feb 6;94(2):303-9. doi: 10.1016/j.ajhg.2014.01.002. Epub 2014 Jan 23.

39.

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.

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.

Genet Med. 2014 May;16(5):386-394. doi: 10.1038/gim.2013.155. Epub 2013 Oct 17. Erratum in: Genet Med. 2014 Feb;16(2):203.

40.

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.

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.

JAMA Neurol. 2013 Dec;70(12):1491-8. doi: 10.1001/jamaneurol.2013.4598.

41.

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.

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.

Genome Med. 2013 Jun 27;5(6):57. doi: 10.1186/gm461. eCollection 2013.

42.

Inverted low-copy repeats and genome instability--a genome-wide analysis.

Dittwald P, Gambin T, Gonzaga-Jauregui C, Carvalho CM, Lupski JR, Stankiewicz P, Gambin A.

Hum Mutat. 2013 Jan;34(1):210-20. doi: 10.1002/humu.22217. Epub 2012 Oct 11.

43.

Human genome sequencing in health and disease.

Gonzaga-Jauregui C, Lupski JR, Gibbs RA.

Annu Rev Med. 2012;63:35-61. doi: 10.1146/annurev-med-051010-162644. Review.

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Genet Med. 2012 Mar;14(3):313-22. doi: 10.1038/gim.2011.13. Epub 2012 Jan 5.

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Sci Transl Med. 2011 Jun 15;3(87):87re3. doi: 10.1126/scitranslmed.3002243.

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Integrating common and rare genetic variation in diverse human populations.

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GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.

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Neurogenetics. 2010 Oct;11(4):465-70. doi: 10.1007/s10048-010-0247-4. Epub 2010 Jun 9.

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Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR.

Am J Hum Genet. 2010 Jun 11;86(6):892-903. doi: 10.1016/j.ajhg.2010.05.001. Epub 2010 May 20.

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

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