PUBLICATIONS



2012

Gonzaga-Jauregui, C., Lupski, J.R., Gibbs, R.A. (2012). Human genome sequencing in health and disease. Annu Rev Med. 2012;63:35-61. doi: 10.1146/annurev-med-051010-162644. Review. PubMed PMID: 22248320; PubMed Central PMCID: PMC3656720.

Bamshad, M.J., Shendure, J.A., Valle, D., Hamosh, A., Lupski, J.R., Gibbs, R.A., Boerwinkle, E., Lifton, R.P., Gerstein, M., Gunel, M., Mane, S., Nickerson DA; Centers for Mendelian Genomics (2012). The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A. 2012; 158A:1523-5. PubMed PMID: 22628075; PubMed Central PMCID: PMC3702263.


2013

Boone, P.M., Soens, Z.T., Campbell, I.M., Stankiewicz, P., Cheung, S.W., Patel, A., Beaudet, A.L., Plon, S.E., Shaw, C.A., McGuire, A.L., Lupski, J.R. (2013). Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013;15:45-54. PubMed PMID: 22878507; PubMed Central PMCID: PMC3705759.

Lupski, J.R., Gonzaga-Jauregui, C., Yang, Y., Bainbridge, M., Jhangiani, S., Buhay, C.J., Kovar, C.L., Wang, M., Hawes, A.C., Reid, J.G., Eng, C., Muzny, D.M., Gibbs, R.A. (2013). Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing CMT neuropathy. Genet Med 5:57. PubMed PMID: 23806086; PubMed Central PMCID: PMC3706849.

Cheung, Y.H., Gayden, T., Campeau, P.M., LeDuc, C.A., Russo, D., Nguyen, V.H., Guo, J., Qi, M., Guan, Y., Albrecht, S., Moroz, B., Eldin, K.W., Lu, J.T., Schwartzentruber, J., Malkin, D., Berghuis, A.M., Emil, S., Gibbs, R.A., Burk, D.L., Vanstone, M., Lee, B.H., Orchard, D., Boycott, K.M., Chung, W.K., Jabado, N. (2013). 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. Epub 2013 May 23. PubMed PMID: 23731537; PubMed Central PMCID: PMC3675240.

Green, R.C., Lupski, J.R., Biececker, L. (2013) Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA 310(4):365-6 PubMed PMID: 23917280; PubMed Central PMCID: PMC3963427.

Wiszniewski, W., Hunter, J., Hanchard, N.A., Miller, J.R., Shaw, C., Tian, I., llner, A., Wang, X., Cheung, S.W., Patel, A., Campbell, I.M., Hixon, P., Ester, A.R., Azamian, M.S., Potocki, L., Zapata, G., Hernandez, P.P., Ramocki, M., Santos-Cortez, R.L.P., Wang, G., York, M.K., Justice, M.J., Chu, Z.D., Bader, P.I., Omo-Griffith, L., Madduri, N.S., Scharer, G., Crawford, H.P., Yanatatsaneejit, P., Eifert, A., Kerr, J., Bacino, C.A., Franklin AIA, Goin-Kochel, R.P., Simpson, G., Immken, L., Haque, M.E., Stosic, M., Williams, M.D., Morgan, T.M., Pruthi, S., Omary, R., Boyadjiev, S.A., Win, K.K., Thida, A., Hurles, M., Hibberd ML. Khor, C.C., Chau NVV, Gallagher, T.E., Matirangura, A., Stankiewicz, P., Beaudet, A.L., Maletic-Savatic, M., Rosenfeld, J.A., Shaffer, L.G., Davis, E.E., Belmont, J.W., Dunstan, S., Simmons, C.P., Bonnen, P., Leal, S., Katsanis, N., Lupski, J.R., and Lalani, S. (2013). TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet 93:197-210. PubMed PMID: 23810381; PubMed Central PMCID: PMC3738832.

Hjeij, R., Lindstrand, A., Francis, R., Zariwala, M.A., Liu, X., Li, Y., Damerla, R., Dougherty, G.W., Abouhamed, M., Olbrich, H., Loges, N.T., Pennekamp, P., Davis, E.E., Carvalho, C.M., Pehlivan, D., Werner, C., Raidt, J., Koehler, G., Haeffner, K., Reyes-Mugica, M., Lupski, J.R., Leigh, M.W., Rosenfeld, M., Morgan, L.C., Knowles, M.R., Lo, C., Katsanis, N., Omran, H. (2013). ARMC4 mutations cause Primary Ciliary Dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet 93:357-367. PubMed PMID: 23849778; PubMed Central PMCID: PMC3738828.

Boone, P.M., Campbell, I.M., Baggett, B.C., Soens, Z.T., Rao, M.M., Hixson, P.M., Patel, A., Bi, W., Cheung, S.W., Lalani, S.R., Beaudet, A.L., Stankiewicz, P., Shaw, C.A., Lupski, J.R. (2013). 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. Epub 2013 May 16. PubMed PMID: 23685542; PubMed Central PMCID: PMC3759716.

Carvalho, C.M.B., Pehlivan, D., Ramocki, M.B., Fang, P., Franco, L.M., Belmont, J.W., Hastings, P.J., Lupski, J.R. (2013). Replicative mechanisms for CNV formation are error prone. Nat Genet 45(11):1319-26 PubMed PMID: 24056715; PubMed Central PMCID: PMC3821386.

Vatta, M., Niu, Z., Lupski, J.R., Putnam, P., Spoonamore, K.G., Fang, P., ENG CM and Willis, A.S. (2013) Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet doi: 10.1002/ajmg.a.36178. [Epub ahead of print] PubMed PMID: 23956205; PubMed Central PMCID: PMC3926511.

Gonzaga-Jauregui, C., Lotze, T., Jamal, L., Penney, S., Campbell, I., Pehlivan, D., Hunter, J.V., Woodbury, S.L., Raymond, G., Adesina, A.M., Reid, J.G., Muzny, D.M., Boerwinkle, E., Centers for Mendelian Genomics, Lupski, J.R., Gibbs, R.A., Wiszniewski, W. (2013). VRK1 mutations associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurology. 2013 70:149-1498 PubMed PMID: 24126608; PubMed Central PMCID: PMC4039291.


2014

Campeau, P.M., Kasperaviciute, D., Lu, J.T., Burrage, L.C., Kim, C., Hori, M., Powell, B.R., Stewart, F., Félix, T.M., van den Ende, J., Wisniewska, M., Kayserili, H., Rump, P., Nampoothiri, S., Aftimos, S., Mey, A., Nair, L.D., Begleiter, M.L., De Bie, I., Meenakshi, G., Murray, M.L., Repetto, G.M., Golabi, M., Blair, E., Male, A., Giuliano, F., Kariminejad, A., Newman, W.G., Bhaskar, S.S., Dickerson, J.E., Kerr, B., Banka, S., Giltay, J.C., Wieczorek, D., Tostevin, A., Wiszniewska, J., Cheung, S.W., Hennekam, R.C., Gibbs, R.A., Lee, B.H., Sisodiya, S.M. (2014). 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. Epub 2013 Nov 29. PubMed PMID: 24291220; PubMed Central PMCID: PMC3895324.

Murali, C., Lu, J.T., Jain, M., Liu, D.S., Lachman, R., Gibbs, R.A., Lee, B.H., Cohn, D., Campeau, P.M. (2014). Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. Mol Genet Metab Rep. 2014;1:213-219. PubMed PMID: 25019053; PubMed Central PMCID: PMC4088274.

Reid, J.G., 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, R.A., Boerwinkle, E. (2014). 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 PMID: 24475911; PubMed Central PMCID: PMC3922167.

Bosch, D., Boonstra, F.N., Gonzaga-Jauregui, Xu, M., de Ligt, J.,Jhangiani, J., Wiszniewski, W., Muzny, D.M., Yntema, H.G., Pfundt, R., Vissers, L.E.L.M., Spruijt, L., Blokland, E.A.W., Chen, C.A., Baylor-Hopkins Center for Mendelian Genomics, Lewis, R.A., Tsai, S.Y., Gibbs, R.A., Tsai, M.J., Lupski, J.R., Zoghbi, H.Y., Cremers FPM, de Vries, B.B.A., Schaaf, C.P. (2013) NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet, 2014 Feb 6;94(2):303-9. PubMed PMID: 24462372; PubMed Central PMCID: PMC3928641.

Wangler, M.F., Gonzaga-Jauregui, C., Gambin, T., Penney, S., Moss, T., Chopra, A., Probst, F.J., Xia, F., Yang, Y., Werlin, S., Eglite, I., Kornejeva, L., Bacino, C.A., Baldridge, D., Neul, J., Lehman, E.L., Larson, A., Beuten, J., Muzny, D.M., Jhangiani, S., Baylor-Hopkins Center for Mendelian Genomics, Gibbs, R.A., Lupski, J.R., Beaudet, A.L. (2014). Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome. PLoS Genetics. 2014 Mar 27;10(3):e1004258 PubMed PMID: 24676022; PubMed Central PMCID: PMC3967950.

Sim, J.C., White, S.M., Fitzpatrick, E., Wilson, G.R., Gillies, G., Pope, K., Mountford, H.S., Torring, P.M., McKee, S., Vulto-van Silfhout, A.T., Jhangiani, S.N., Muzny, D.M., Leventer, R.J., Delatycki, M.B., Amor, D.J., Lockhart, P.J. (2014). 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 PMID: 24674232; PubMed Central PMCID: PMC4022252.

Karaca, E., Weitzer, S., Pehlivan, D., Shiraishi, H., Gogakos, T., Hanada, T., Jhangiani, S.N., Wiszniewski, W., Withers, M., Campbell, I.M., Erdin, S., Isikay, S., Franco, L.M., Gonzaga-Jauregui, C., Gambin, T., Gelowani, V., Hunter, J.V., Yesil, G., Koparir, E., Yilmaz, S., Brown, M., Briskin, D., Hafner, M., Morozov, P., Farazi, T.A., Bernreuther, C., Glatzel, M., Trattnig, S., Friske, J., Kronnerwetter, C., Bainbridge, M.N., Gezdirici, A., Seven, M., Muzny, D.M., Boerwinkle, E., Ozen, M., Clausen, T., Tuschi, T., Yuksel, A., Hess, A., Gibbs, R.A., Martinez, J., Penninger, J., Lupski, J.R. (2014). Human CLP1 mutations alter tRNA biogenesis affecting both peripheral and centeral nervous system function. Cell. 2014 Apr 24;157(3):636-50 PubMed PMID: 24766809; PubMed Central PMCID: PMC4146440.

Xia F., Bainbridge M.N., Tan T.Y., Wangler M.F., Scheuerle A.E., Zackai E.H., Harr M.H., Sutton V.R., Nalam R.L., Zhu W., Nash M., Ryan M.M., Yaplito-Lee J., Hunter J.V., Deardorff M.A., Penney S.J., Beaudet A.L., Plon S.E., Boerwinkle E.A., Lupski J.R., Eng C.M., Muzny D.M., Yang Y., Gibbs R.A. (2014) De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea. Am J Hum Genet. May 1;94(5):784-9 PubMed PMID: 24791903; PubMed Central PMCID: PMC4067559.

Okamoto, Y., Goksungur, M.T., Pehlivan, D., Beck, C.R., Gonzaga-Jauregui, C., Muzny, D.M., Atik, M.M., Carvalho, C.M., Matur, Z., Bayraktar, S., Boone, P.M., Akyuz, K., Gibbs, R.A., Battaloglu, E., Parman, Y., Lupski, J.R. (2013). Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2013 Oct 17. doi: 10.1038/gim.2013.155. [Epub ahead of print] PubMed PMID: 24136616; PubMed Central PMCID: PMC4224029.

Carvalho, C.M.B., Zuccherator, L.W., Williams, C.L., Neill, N.J., Bainbridge, M., Jhangiani, S., Muzny, D.M., Gibbs, R.A., Ip, W., Guillerman, R.P., Lupski, J.R., Bertuch, A.A. (2014). Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Medical Genetics. BMC Medical Genetics 15:64. PubMed PMID: 24898207; PubMed Central PMCID: PMC4057820.

Rainger, J., Pehlivan, D., Johansson, S., Bengani, H., Sanchez-Pulido, L., Williamson, K.A., Ture,, M., Barker,, H., Rosendahl, K., Spranger, J., Horn, D., Meynert, A., Floyd, J.A.B., Prescot, T., Anderson, C.A, Rainger, J.K., Karaca, E., Gonzaga-Jauregui, C., Jhangiani, S., Muzny, D.M., Seawright, A., Soares, D.C., Kharbanda, M., Murday, V., Finch, A., UK10K, Baylor-Hopkins Center for Mendelian Genomics, Gibbs, R.A., van Heyningen, V., Taylor, M.S., Yakut, T., Knappskog, P.M., Matthew, E., Hurles, Ponting, C.P., Lupski, J.R., Houge, G., FitzPatrick, D.R. et al (2014). Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014 Jun 5;94(6):915-23. PubMed PMID: 24906020; PubMed Central PMCID: PMC4121478

Gonzaga-Jauregui, C., Mir, S., Penney, S.M., Jhangiani, S., Midgen, C., Finegold, M., Muzny, D.M., Wang, M., Bacino, C.A., Baylor-Hopkins Center for Mendelian Genomics, Gibbs., R.A., Lupski, J.R., Kellermayer, R., Hanchard, N.A. (2014). Whole-exome sequencing reveals GPIHBP1 mutations in a case of infantile colitis with severe hypertriglyceridemia. J. Pediatric Gastroenterology and Nutrition 59:17-21. PubMed PMID: 24614124; PubMed Central PMCID: PMC4203304

Prada, C.E., Gonzaga-Jauregui, C., Tannenbaum, R., Penney, S., Lupski, J.R., et al (2014). Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. Eur J Med Genet. 2014 Jul;57(7):339-44. PubMed PMID: 24769197; NIHMSID: NIHMS589296; PubMed Central PMCID: PMC4065856.

Stray-Pedersen, A., Sorte, H.S., Backe, P.H., Mørkrid, L., Chokshi, N., Erichsen, H.C., Gambin, T., Wlodarski, M., Krüger, M., Speckmann, C., Ehl, S., Jhangiani, S., Muzny, D.M., Patel, A., Raymond, K., Sasa, G.S., Krance, R.A., Martinez, C.A., Abraham, S.M., Elgstøen, K., Hall, P., Forbes, L., Merckoll, E., Westvik, J., Nishimura, G., Rustad, C., Abrahamsen, T.G., Rønnestad, A., Osnes, L.T., Egeland, T., Rodningen, O.K., Beck, C.R., Boerwinkle, E., Gibbs, R.A., Lupski, J.R., Orange, J.S., Lausch, E., Hanson, I.C. (2013). PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am. J. Hum. Genet. 95:96-97. PubMed PMID: 24931394; PubMed Central PMCID: PMC4085583.

Boone, P.M., Yuan, B., Campbell, I.M., Scull, J.C., Withers, M.A., Baggett, B.C., Beck, C.R., Shaw, C.J., Stankiewicz, P., Moretti, P., Goodwin, W.E., Hein, N., Fink, J.K., Seong, M.-W., Seo, S.H., Park, S.S., Karbassi, I.D., Batish, S.D., Ordóñez-Ugalde, A., Quintáns, B., Sobrido, M.-J., Semmler, S., Lupski, J.R. (2014). The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am. J. Hum. Genet. 95:143-161. PubMed PMID: 25065914; PubMed Central PMCID: PMC4129405.

Campbell, I.M., Yuan, B., Robberecht, C., Pfundt, R., Szafranski, P., McEntagart, M.M., Nagamani, S.C.S., Erez, A., Bartnik, M., Wisniowiecka-Kowalnik, B., Plunkett, K.S., Pursley, A.N., Kang, S.-H.L., Bi, W., Lalani, S.R., Bacino, C.A., Vast, M., Marks, K., Patton, M., Olofsson, P., Patel, A., Veltman, J.A., Cheung, S.W., Shaw, C.A., Vissers, L.E.L.M., Vermeesch, J.R., Lupski, J.R., Stankiewicz, P. (2014). Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am. J. Hum. Genet. 95:173-182 PubMed PMID: 25087610; PubMed Central PMCID: PMC4129404.

Pehlivan, D., Karaca, E., Aydin, H., Beck, C.R., Gambin, T., Muzny, D.M., Geckinli, B.B., Karaman, A., Jhangiani, S.N., Centers for Mendelian Genomics, Gibbs, R.A., Lupski, J.R. (2014). Whole exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. European Journal of Human Genetics 22:1145-1148 PubMed PMID: 24424126; PubMed Central PMCID: PMC4135405.

Bayram, Y., Pehlivan, D., Karaca, E., Gambin, T., Jhangiani, S.N., Erdin, S., Gonzaga-Jauregui, C., Wiszniewski, W., Muzny, D., Baylor-Hopkins Center for Mendelian Genomics, Elcioglu, N.H., Yildirim, M.S., Bozkurt, B., Zamani, A., Gibbs, R.A., Lupski, J.R. (2014). Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am. J. Med. Genet. 164:2328-2334. PubMed PMID: 25045128; PubMed Central PMCID: PMC4332576.

Yamamoto, S., Jaiswal, M., Charng, W-L., Gambin, T., Karaca, E., Mirzaa, G., Wiszniewski, W., Sandoval, H., Haelterman, N.A., Xiong, B., Zhang, K., Bayat, V., David, G., Li, T., Chen, K., Gala, U., Harel, T., Pehlivan, D., Penney, S., Vissers, L.E.L.M., de Ligt, J., Jhangiani, S., Xie, Y., Tsang, S.H., Parman, Y., Sivaci, M., Battaloglu, E., Muzny, D., Wan, Y-W., Liu, Z., Lin-Moore, K.L.T., Clark, R.D., Curry, C.J., Link, N., Schulze, K.L., Boerwinkle, E., Dobyns, W.B., Allikmets, R., Gibbs, R.A., Chen, R., Lupski, J.R., Wangler, M.F., Bellen, H. (2014). A Drosophila genetic resource of mutants to study mechanisms underlying genetic disease. Cell 159:200-214. PubMed PMID: 25259927; PubMed Central PMCID: PMC4298142.

de Kock, L., Sabbaghian, N., Druker, H., Weber, E., Hamel, N., Miller, S., Choong, C.S., Gottardo, N.G., Kees, U.R., Rednam, S.P., van Hest, L.P., Jongmans, M.C., Jhangiani, S., Lupski, J.R., Zacharin, M., Bouron-Dal Soglio, D., Huang, A., Priest, J.R., Perry, A., Mueller, S., Albrecht, S., Malkin, D., Grundy, R.G., Foulkes, W.D. (2014). Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathol. 2014 Oct;128(4):583-95. doi: 10.1007/s00401-014-1318-7. Epub 2014 Jul 15. PubMed PMID: 25022261; PubMed Central PMCID: PMC4381868.

Stray-Pederson, A., Jouanguy, E., Crequer, A., Mace, E., Brown, B., Jhangiani, S.N., Muzny, D.M., Gambin, T., Sorte, H., Bertuch, A., Sasa, G., Metry, D., Campbell, J., Dishop, M., Scollard, D., Krance, R., The Centers for Mendelian Genomics, Gibbs, Richard A., Lupski, J.R., Casanov., J.-L., Norosky, L.M. (2014). Compound heterozygous CORO1A mutations in a kindred with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis, molluscum contagiosum and granulomatous tuberculoid leprosy with shorted telomeres. J. Clin. Immunology 34:871-890. PubMed PMID: 25073507; PubMed Central PMCID: PMC4386834.

Campbell, I.M., Stewart, J.R., James, R.A., Beaudet, A.L., Lupski, J.R., Stankiewicz, P., Olofsson, P., Shaw, C.A. (2014). Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. Am. J. Hum. Genetics 95:345-359. PubMed PMID: 25242496; PubMed Central PMCID: PMC4185125.

Xie, Y., Lee, W., Cai, C., Gambin, T., Nõupuu, Sujirakul, T., K., Ayuso, C., Jhangiani, S., Muzny, D., Boerwinkle, E., Gibbs, R., Greenstein, V.C., Lupski, J.R., Tsang, S.H., Allikmets, R. (2014). New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Human Molecular Genetics 23:5774-5780. PubMed PMID: 24916380; PubMed Central PMCID: PMC4189905.

Carvalho, C.M.B., Vasanth, S., Shinawi, M., Russell, C., Ramocki, M.B., Brown, C.W., Graakjaer, J., Skytte, A-B., Vianna-Morgante, A.M., Krepischi, A.C.V., Simpson Patel, G., Immken, L.D., Kyrieckos, A., Lim, C., Cheung, S.W., Rosenberg, C., Katsanis, N., Lupski, J.R. (2014). Dosage changes of a segment at 17p13.1 leads to intellectual disability and microcephaly due to complex genetic interaction of multiple genes. Am. J. Hum. Genetics 95:565-578 PubMed PMID: 25439725; PubMed Central PMCID: PMC4225592.

Lalani, S.R., Zhang, J., Schaaf, C.P., Brown, C., Magoulas, P., Tsai, A.C-H., El-Gharbawy, A., Wierenga, K.J., Bartholomew, D., Fong, C-T., Barbaro-Dieber, T., Kukolich, M.K., Burrage, L.C., Austin, E., Keller, K., Pastore, M., Fernandez, F., Lotze, T., Wilfong, A., Purcarin, G., Zhu, W., Craigen, W.J., McGuire, M., Jain, M., Cooney, E., Azamian, M., Bainbridge, M.N., Muzny, D.M., Boerwinkle, E., Person, R.E., Niu, Z., Eng, C.M., Lupski, J.R., Gibbs, R.A., Beaudet, A.L., Yang, Y., Wang, M.C., Xia, F. (2014). Mutations in PURA cause profound neonatal hypotonia, seizures and encephalopathy in the 5q31.3 microdeletion syndrome. Am. J. Hum. Genetics 95:579-583. PubMed PMID: 25439098; PubMed Central PMCID: PMC4225583.

Yang, Y., Muzny, D.M., 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, W.J., Bekheirnia, M.R., Stray-Pedersen, A., Liu, P., Wen, S., Alcaraz, W., Cui, H., Walkiewicz, M., Reid, J., Bainbridge, M., Patel, A., Boerwinkle, E., Beaudet, A.L., Lupski, J.R., Plon, S.E., Gibbs, R.A., Eng, C.M. (2014). Molecular findings among patients referred for clinical whole exome sequencing. JAMA 312:1870-1879. PubMed PMID: 25326635; PubMed Central PMCID: PMC4326249.

Bayer, D.K., Martinez, C., Forbes, L., Hanson, I.C., Bellini, W., Leduc, M., Yang, Y., Eng, C., Patel, An., Gibbs, R.A., Baker, M., Lupski, J.R., Orange, J., Filiz, S., Stray-Pedersen, A. (2014). Vaccine-associated varicella and rubella infectsion in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. Clinical Experimental Immunology 178:459-469. PubMed PMID: 25046553; PubMed Central PMCID: PMC4238873.

Trivellin, G., Daly, A.F., Rueda Faucz, F., Yuan, B., Rostomyan, L., Larco, LD.O., Schernthaner-Reiter, M.H., Szarek, E., Leal, L.F., Caberg, L-H., Castermans, E., Villa, C., Dimopoulos, A., Chittiboina, P., Xekouki, P., Shah, N., Metzger, D., Lysy, P.A., Ferrante, E., Strebkova, N., Mazerkina, N., Chiara Zatelli, M., Lodish, M., Horvath, A., Bertollo de Alexandre, R., Manning, A.D., de la Luz Sierra, M., Palmeira, L., Coppieters, W., Georg, M., Jamar, M., Bours, V., Wu, T.J., Choong, C.S., Bertherat, J., Chanson, P., Farrell, W., Wess, J., Costanzi, S., Liu, P., Lupski, J.R., Beckers, A., Stratakis, C.A. (2014). Gigantism and acromegaly due to Xq26 microduplications and GPR101 defects. N. Engl. J. Med. 37:2363-2374. PubMed PMID: 25470569; PubMed Central PMCID: PMC4291174.


2015

Karaca, E., Buyukkaya, R., Pehlivan, D., Charng, W.L., Yaykasli, K.O., Bayram, Y., Gambin, T., Withers, M., Atik, M.M., Arslanoglu, I., Bolu, S., Erdin, S., Buyukkaya, A., Yaykasli, E., Jhangiani, S.N., Muzny, D.M., Gibbs, R.A., Lupski, J.R.; Baylor Hopkins Center for Mendelian Genomics. (2015). Whole exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J. Clin. Endocrinol. Metab. 100:E140-147. PubMed PMID: 25322266; PubMed Central PMCID: PMC4283017.

Yu B., Li A.H., Muzny D., Veeraraghavan N., de Vries P.S., et al (2015). Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine Levels and Incident Coronary Heart Disease. Circ Cardiovasc Genet. 2015 Jan 8;PubMed PMID: 25575548; NIHMSID: NIHMS655443. [Epub ahead of print]

Wu, N., Ming, X., Xiao, J., Wu, Z., Chen, X., Shinawi, M., Shen, Y., Yu, G., Liu, J., Xie, H., Gucev, Z.S., Liu, S., Yang, N., Al-Kateb, H., Chen, J., Zhang, J., Hauser, N., Zhang, T., Tasic, V., Liu, P., Su, X., Pan, X., Liu, C., Wang, L., Shen, J., Shen, J., Chen, Y., Zhang, T., Zhang, J., Choy, K.W., Wang, J., Wang, Q., Li, S., Zhou, W., Guo, J., Wang, Y., Zhang, C., Zhao, H., An, Y., Wang, J., Liu, Z., Zuo, Y., Tian, Y., Weng, X., Sutton, V.R., Wang, H., Ming, Y., Kulkarni, S., Zhong, T.P., Giampietro, P.F., Dunwoodie, S.L., Cheung, S.W., Zhang, X., Jin, L., Lupski, J.R., Qiu, G., Zhang, F. (2015). TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N. Engl. J. Med. 372:341-350. PubMed PMID: 25564734; PubMed Central PMCID: PMC4326244.

Riveiro-Álvarez, R., Xie, Y.A., López-Martínez, M.Á., Gambin, T., Pérez-Carro, R., Ávila-Fernández, A., López-Molina, M.I., Zernant, J., Jhangiani, S., Muzny, D., Yuan, B., Boerwinkle, E., Gibbs, R., Lupski, J.R., Ayuso, C., Allikmets R. (2015). New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy. JAMA Ophthalmol. 2015 Feb 1;133(2):133-9. doi: 10.1001/jamaophthalmol.2014.4266. PubMed PMID: 25356532; PubMed Central PMCID: PMC4351871.

Yuan, B., Pehlivan, D., Karaca, E., Patel, N., Charng, W.L., et al (2015). Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 Feb;125(2):636-51. PubMed PMID: 25574841; PubMed Central PMCID: PMC4319410.

Collison, F.T., Xie, Y.A., Gambin, T., Jhangiani, S., Muzny, D., Gibbs, R., Lupski, J.R., Fishman, G.A., Allikmets, R. (2015). Whole Exome Sequencing Identifies an Adult-onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-syndromic Bull's Eye Maculopathy. Ophthalmic Genet. 2015 Feb 17:1-6. [Epub ahead of print] PubMed PMID: 25687216.

Gonzaga-Jauregui, C., Gamble, C.N., Yuan, B., Penney, S., Jhangiani, S., et al (2015). Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet. 2015 Mar;23(3):342-6. PubMed PMID: 24986830; PubMed Central PMCID: PMC4326704.

Chen, L., Zhou, W., Zhang, C., Lupski, J.R., Jin, L., Zhang, F. (2015). CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis. Hum. Mol. Genet. 24:1574-1583. PubMed PMID: 25398944; PubMed Central PMCID: PMC4381758.

Beck, T.F., Campeau, P.M., Jhangiani, S.N., Gambin, T., Li, A.H., Abo-Zahrah, R., Jordan, V.K., Hernandez-Garcia, A., Wiszniewski, W., Muzny, D., Gibbs, R.A., Boerwinkle, E., Lupski, J.R., Lee, B., Reardon, W., Scott, D.A. (2015). FBN1 contributing to familial congenital diaphragmatic hernia. Am. J. Med. Genet. 2015 Mar 3. doi: 10.1002/ajmg.a.36960. [Epub ahead of print] PubMed PMID: 25736269.

Beck, C.R., Carvalho, C.M.B., Banser, L., Gambin, T., Stubbolo, D., Yuan, B., Sperle, K., McCahan, S.M., Henneke, M., Seeman, P., Garbern, J.Y., Hobson, G.M., Lupski, J.R. (2015). Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genetics. 11(3):e1005050. doi: 10.1371/journal.pgen.1005050 PubMed PMID: 25749076; PubMed Central PMCID: PMC4352052.

Carvalho, C.M.B., Pfundt, R., King, D.A., Lindsay, S.J., Zuccherato, L.W., Macville, M.V.E., Liu, P., Johnson, D., Stankiewicz, P., Brown, C.W., DDD Study, Shaw, C.A., Hurles, M.E., Ira, G., Hastings, P.J., Brunner, H.G., Lupski, J.R. (2015). Absence of heterozygosity due to template switching during replicative rearrangements. Am. J. Hum. Genet. 96:555-564. PubMed PMID: 25799105; PubMed Central PMCID: PMC4385179.

Watkin, L.B., Jessen, B., Wiszniewski, W., Vece, T., Jan, M., Sha, Y., Thamsen, M., Santos-Cortez, R.L.P., Lee, K., Gambin, T., Forbes, L., Law, C.S., Stray-Pedersen, A., Cheng, M.H., Mace, E.M., Anderson, M.S., Liu, D., Tang, L.F., Nicholas, S.K., Nahmod, K., Makedonas, G., Canter, D., Kwok, P-Y., Hicks, J., Jones, K.D., Jhangiani, S.N., Rosenblum, M.D., Dell, S.D., Waterfield, M.R., Papa, F.R., Muzny, D.M., Zaitlen, N., Leal, S.M., Gonzaga-Jauregui, C., Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle, E., Eissa, N.T., Gibbs, R.A., Lupski, J.R., Orange, J.S., Shum, A.K. (2015). COPA mutations impair ER-Golgi transport causing hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 Apr 20. doi: 10.1038/ng.3279 PubMed PMID: 25894502.

White, J., Mazzeu, J.F., Hoischen, A., Jhangiani, S., Gambin, T., Alcino, M.C., Penney, S., Saraiva, J.M., Hove, H., Skovby, F., Kayserili, H., Estrella, E., Vulto-van Silfhout, A., Steehouwer, M., Muzny, D.M., Sutton, V.R., Gibbs, R.A., Baylor-Hopkins Center for Mendelian Genomics, Lupski, J.R., Brunner, H., van Bon, B.W.M., Carvalho, C.M.B. (2015). Frameshift mutations in DVL1 clustering in the penultimate exon cause autosomal dominant Robinow syndrome. Am. J. Hum. Genet. 96:612-632 PubMed PMID: 25817016; PubMed Central PMCID: PMC4385180.

Lupski, J.R. (2015). Structural Variation Mutagenesis of the Human Genome: Impact on Disease and Evolution. Environmental and molecular mutagenesis. Environmental and Molecular Mutagenesis. PubMed PMID: 25892534; NIHMSID: NIHMS664199

Campbell, I., Shaw, C.A., Stankiewicz, P., Lupski, J.R. (2015). Somatic mosaicism: Implications for disease and transmission genetics. Trends in Genetics. 2015 Apr 21. pii: S0168-9525(15)00066-9. doi: 10.1016/j.tig.2015.03.013. PubMed PMID: 25910407; PubMed Central PMCID: PMC4490042.

Lodish, M.B., Yuan, B., Levy, I., Braunstein, G.D., Lyssikatos, C., Salpea, P., Szarek, E., Karageorgiadis, A.S., Belyavskaya, E., Raygada, M., Faucz, F.R., Izatt, L., Brain, C., Gardner, J., Quezado, M., Carney, J.A., Lupski, J.R., Stratakis, C.A. (2015). Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations. European J. of Endocrinology 172:803-811. PubMed PMID: 25924874; PubMed Central PMCID: PMC4428149.

Bayram, Y., Gulsuner, S., Guran, T., Abaci, A., Yesil, G., Gulsuner, H.U., Atay, Z., Pierce, S.B., Gambin, T., Lee, M., Turan, S., Bober, E., Atik, M.M., Walsh, T., Karaca, E., Pehlivan, D., Jhangiani, S.N., Muzny, D., Baylor-Hopkins Center for Mendelian Genomics, Bereket, A., Buyukgebiz, A., Boerwinkle, E., Gibbs, R.A., King, M.-C., Lupski, J.R. (2015). Homozygous loss-of-function mutations in SOHLH1 in patients with non-syndromic hypergonadotropic hypogonadism. Journal of Clinical Endocrinologogy and Metabolism 100:E808-814. PubMed PMID: 25774885; PubMed Central PMCID: PMC4422898.

English, A.C., Salerno, W.J., Hampton, O.A., Gonzaga-Jauregui, C., Ambreth, S., Ritter, D.I., Beck, C.R., Davis, C.F., Dahdouli, M., Ma, S., Carroll, A., Veeraraghavan, N., Bruestle, J., Drees, B., Hastie, A., Lam, E., White, S., Mishra, P., Wang, M., Han, Y., Zhang, F., Fu, Y., Stankiewicz, P., Wheeler, D.A., Reid, J.G., Muzny, D.M., Rogers, J., Sabo, A., Worley, K.C., Lupski, J.R., Boerwinkle, E., Gibbs, R.A. (2015). Assessing structural variation in a personal genome. BMC Genomics 16:286. PubMed PMID: 25886820; PubMed Central PMCID: PMC4490614.

Pehlivan, D., Coban Akdemir, Z., Karaca, E., Bayram, Y., Jhangiani, S., Yildiz, E., Muzny, D., Uluc, K., Gibbs, R.A., Baylor-Hopkins Cener for Mendelian Genomics, Elcioglu, N., Lupski, J.R., Harel, T. (2015). Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Human Genetics 134:671-673. PubMed PMID: 25893792; PubMed Central PMCID: PMC4426057.

Sobreira, N., Modaff, P., Steel, G., You, J., Nanda, S., Hoover-Fong, J., Valle, D. and Pauli, R.M. (2015). An anadysplasia-like disorder secondary to mutations of the lamin B receptor (LBR) gene: Further definition of the phenotypic heterogeneity of LBR-bone dysplasia. Am J Med Genet 167A: 159-163, 2015. PubMed PMID: 25348816.

Minillo, R.M., Sobreira, N. de Faria Soares Mde, F., Jurgens, J., Ling, H., Hetrick, K.N., Doheny, K.F., Valle, D., Brunoni, D., and Perez, A.B. (2015). Novel deletion of SERPINF1 causes autosomal recessive osteogenesis imperfect Type VI in two Brazalian families. Mol Syndromol 5: 268-275, 2014. PubMed PMID: 25565926.

Jurgens, J., Ling, H., Hetrick, K., Pugh, E., Schiettecatte, F., Doheny, K., Hamosh, A., Avramopoulos, D., Valle, D. and Sobreira N. (2015). Assessment of incidental findings in 232 whole exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. Genet Med, e-pub 8 January 2015. PubMed PMID: 25569433.

Sobreira, N., Schiettecatte, F., Boehm, C., Valle, D. and Hamosh, A. (2015). New tools for Mendelian disease gene identification: PhenoDB variant analysis module and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene. Hum Mutation, 36: 425-431, 2015. PubMed PMID: 25684268.

Ben-Salem, S., Sobreira, N., Al-Shamsi, A.M., Valle, D., Ali, B.R., and Al-Gazali, L. (2015). New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation. J Dermatol, e-pub 11 May 2015. PubMed PMID: 25958742.

Bayram, Y., Aydin, H., Gambin, T., Coban Akdemir, Z., Atik, M., Karaca, E., Karaman, A., Pehlivan, D., Jhangiani, S.N., Baylor-Hopkins Center for Mendelian Genomics, Gibbs, R.A., Lupski, J.R. (2015). Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with Oral-Facial-Digital syndrome type VI. Am. J. Med. Genet. In press. PubMed PMID: 25846457.

Beckers, A., Lodish, M.B., Trivellin, G., Rostomyan, L., Lee, M., Faucz, F.R., Yuan, B., Choong, C.S., Caberg, J.-H., Verrua, E., Naves, A., Cheetham, T.D., Young, J., Lysy, P.A., Petrossians, P., Cotterill, A., Shah, N.S., Metzer, D., Castermans, E., Ambrosio, M.R., Villa, C., Strebkova, N., Mazerkina, Gaillard, S., Barra, G.B., Casulari, L.A., Neggers, S.J., Salvatori, R., Jaffrain-Rea, M.-L., Zacharin, M., Santamaria, B.L., Zacharieva, S., Lim, E.M., Mantovani, G., Zatelli, M.C., Collins, M.T., Bonneville, J.-F., Quezado, M., Chittiboina, P., Oldfield, E.H., Bours, V., Liu, P., De herder, W., Pellegata, N., Lupski, J.R., Daly, A.F., Stratakis, C.A. (2015). X-linked acrogigantism (X-LAG) syndrome: Clinical profile and therapeutic responses. Endocrine Related Cancer. In press. PubMed PMID: 25712922; PubMed Central PMCID: PMC4433400.

Gu, S., Yuan, B., Campbell, I.M., Beck, C.R., Carvalho, C.M.B., Nagamani, S.C.S., Erez, A., Patel, A., Bacino, C., Shaw, C.A., Stankiewicz, P., Cheung, S.W., Bi, W., Lupski, J.R. (2015). Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Human Molecular Genetics. In press. PubMed PMID: 25908615; PubMed Central PMCID: PMC4476451.

Ramasamy, R., Bakircioğlu, M.E., Cengiz, C., Karaca, E., Scovell, J., Jhangiani, S.N., Akdemir, Z.C., Bainbridge, M., Yu, Y., Huff, C., Gibbs, R.A., Lupski, J.R., Lamb, D.J. (2015). Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia. Fertility and Sterility. In press. PubMed PMID: 25956372.


In Press

Brennand, K. Lee, I., Carvalho, C.M.B., Douvaras, P., Ho, S.-M., Hartley, B., Ladran, I., Siegel, A., McCarthy, S., Malhotra, D.D., Sebat, J., Rapoport, J., Fossati, V., Lupski, J.R., Levy, D., Zuccherato, L. (2015). Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells. NPJ Schizophrenia. In press.