Exome Sequencing Identifies a Homozygous C5orf42 Variant in a Turkish Kindred With Oral-Facial-Digital Syndrome Type VI

Por Bayram, Yavuz, Aydin, Hatip, Gambin, Tomasz, Akdemir, Zeynep Coban, Atik, Mehmed M., Karaca, Ender, Karaman, Ali, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Lupski, James R.
Publicado no Am J Med Genet A (2015)

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia

Por Pehlivan, Davut, Karaca, Ender, Aydin, Hatip, Beck, Christine R, Gambin, Tomasz, Muzny, Donna M, Bilge Geckinli, B, Karaman, Ali, Jhangiani, Shalini N, Gibbs, Richard A, Lupski, James R
Publicado em 2014

First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis

Por Pedroza, Luis Alberto, Guerrero, Nina, Stray-Pedersen, Asbjørg, Tafur, Cristina, Macias, Roque, Muñoz, Greta, Akdemir, Zeynep Coban, Jhangiani, Shalini N., Watkin, Levi B., Chinn, Ivan K., Lupski, James R., Orange, Jordan S.
Publicado no Front Pediatr (2017)

Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia

Por Ramasamy, Ranjith, Bakircioğlu, M. Emre, Cengiz, Cenk, Karaca, Ender, Scovell, Jason, Jhangiani, Shalini N., Akdemir, Zeynep C., Bainbridge, Matthew, Yu, Yao, Huff, Chad, Gibbs, Richard A., Lupski, James R., Lamb, Dolores J.
Publicado no Fertil Steril (2015)

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies

Por Gawlinski, Pawel, Posmyk, Renata, Gambin, Tomasz, Sielicka, Danuta, Chorazy, Monika, Nowakowska, Beata, Jhangiani, Shalini N., Muzny, Donna M., Bekiesinska-Figatowska, Monika, Bal, Jerzy, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R., Wiszniewski, Wojciech
Publicado no Pediatr Neurol (2016)

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)

Por Caramins, Melody, Colebatch, James G., Bainbridge, Matthew N., Scherer, Steven S., Abrams, Charles K., Hackett, Emma L., Freidin, Mona M., Jhangiani, Shalini N., Wang, Min, Wu, Yuanqing, Muzny, Donna M., Lindeman, Robert, Gibbs, Richard A.
Publicado em 2013

Rare Variants in the Notch Signaling Pathway Describe a Novel Type of Autosomal Recessive Klippel–Feil Syndrome

Por Karaca, Ender, Yuregir, Ozge O., Bozdogan, Sevcan T., Aslan, Huseyin, Pehlivan, Davut, Jhangiani, Shalini N., Akdemir, Zeynep C., Gambin, Tomasz, Bayram, Yavuz, Atik, Mehmed M., Erdin, Serkan, Muzny, Donna, Gibbs, Richard A., Lupski, James R.
Publicado no Am J Med Genet A (2015)

Enrichment of mutations in chromatin regulators in people with Rett Syndrome lacking mutations in MECP2

Por Sajan, Samin A., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Glaze, Daniel G., Kaufmann, Walter E., Skinner, Steven A., Anese, Fran, Friez, Michael J., Jane, Lane, Percy, Alan K., Neul, Jeffrey L.
Publicado no Genet Med (2016)

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome

Por Carvalho, Claudia M B, Zuccherato, Luciana W, Williams, Christopher L, Neill, Nicholas J, Murdock, David R, Bainbridge, Matthew, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Ip, Wan, Guillerman, Robert Paul, Lupski, James R, Bertuch, Alison A
Publicado em 2014

Secondary findings and carrier test frequencies in a large multiethnic sample

Por Gambin, Tomasz, Jhangiani, Shalini N., Below, Jennifer E., Campbell, Ian M., Wiszniewski, Wojciech, Muzny, Donna M., Staples, Jeffrey, Morrison, Alanna C., Bainbridge, Matthew N., Penney, Samantha, McGuire, Amy L., Gibbs, Richard A., Lupski, James R., Boerwinkle, Eric
Publicado no Genome Med (2015)

Whole Exome Sequencing Identifies Three Novel Mutations in ANTXR1 in Families with GAPO Syndrome

Por Bayram, Yavuz, Pehlivan, Davut, Karaca, Ender, Gambin, Tomasz, Jhangiani, Shalini N., Erdin, Serkan, Gonzaga-Jauregui, Claudia, Wiszniewski, Wojciech, Muzny, Donna, Elcioglu, Nursel H., Yildirim, M. Selman, Bozkurt, Banu, Zamani, Ayse Gul, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R.
Publicado no Am J Med Genet A (2014)

Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome

Por Karaca, Ender, Buyukkaya, Ramazan, Pehlivan, Davut, Charng, Wu-Lin, Yaykasli, Kursat O., Bayram, Yavuz, Gambin, Tomasz, Withers, Marjorie, Atik, Mehmed M., Arslanoglu, Ilknur, Bolu, Semih, Erdin, Serkan, Buyukkaya, Ayla, Yaykasli, Emine, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R.
Publicado no J Clin Endocrinol Metab (2015)

FBN1 Contributing to Familial Congenital Diaphragmatic Hernia

Por Beck, Tyler F., Campeau, Philippe M., Jhangiani, Shalini N., Gambin, Tomasz, Li, Alexander H., Abo-Zahrah, Reem, Jordan, Valerie K., Hernandez-Garcia, Andres, Wiszniewski, Wojciech K., Muzny, Donna, Gibbs, Richard A., Boerwinkle, Eric, Lupski, James R., Lee, Brendan, Reardon, Willie, Scott, Daryl A.
Publicado no Am J Med Genet A (2015)

Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly

Por Gonzaga-Jauregui, Claudia, Lotze, Timothy, Jamal, Leila, Penney, Samantha, Campbell, Ian M., Pehlivan, Davut, Hunter, Jill V., Woodbury, Suzanne L., Raymond, Gerald, Adesina, Adekunle M., Jhangiani, Shalini N., Reid, Jeffrey G., Muzny, Donna M., Boerwinkle, Eric, Lupski, James R., Gibbs, Richard A., Wiszniewski, Wojciech
Publicado em 2013

DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

Por White, Janson J., Mazzeu, Juliana F., Hoischen, Alexander, Bayram, Yavuz, Withers, Marjorie, Gezdirici, Alper, Kimonis, Virginia, Steehouwer, Marloes, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., van Bon, Bregje W.M., Sutton, V. Reid, Lupski, James R., Brunner, Han G., Carvalho, Claudia M.B.
Publicado no Am J Hum Genet (2016)

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

Por Sim, Joe C H, White, Susan M, Fitzpatrick, Elizabeth, Wilson, Gabrielle R, Gillies, Greta, Pope, Kate, Mountford, Hayley S, Torring, Pernille M, McKee, Shane, Vulto-van Silfhout, Anneke T, Jhangiani, Shalini N, Muzny, Donna M, Leventer, Richard J, Delatycki, Martin B, Amor, David J, Lockhart, Paul J
Publicado em 2014

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

Por Boone, Philip M., Yuan, Bo, Gu, Shen, Ma, Zhiwei, Gambin, Tomasz, Gonzaga‐Jauregui, Claudia, Jain, Mahim, Murdock, Todd J., White, Janson J., Jhangiani, Shalini N., Walker, Kimberly, Wang, Qiaoyan, Muzny, Donna M., Gibbs, Richard A., Hejtmancik, J. Fielding, Lupski, James R., Posey, Jennifer E., Lewis, Richard A.
Publicado no Mol Genet Genomic Med (2015)

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

Por Pehlivan, Davut, Beck, Christine R., Okamoto, Yuji, Harel, Tamar, Akdemir, Zeynep H.C., Jhangiani, Shalini N., Withers, Marjorie A., Goksungur, Meryem Tuba, Carvalho, Claudia M.B., Czesnik, Dirk, Gonzaga-Jauregui, Claudia, Wiszniewski, Wojciech, Muzny, Donna M., Gibbs, Richard A., Rautenstrauss, Bernd, Sereda, Michael W., Lupski, James R.
Publicado no Genet Med (2015)

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

Por Stray-Pedersen, Asbjørg, Cobben, Jan-Maarten, Prescott, Trine E., Lee, Sora, Cang, Chunlei, Aranda, Kimberly, Ahmed, Sohnee, Alders, Marielle, Gerstner, Thorsten, Aslaksen, Kathinka, Tétreault, Martine, Qin, Wen, Hartley, Taila, Jhangiani, Shalini N., Muzny, Donna M., Tarailo-Graovac, Maja, van Karnebeek, Clara D.M., Lupski, James R., Ren, Dejian, Yoon, Grace
Publicado no Am J Hum Genet (2016)

A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T‐cell dysfunction

Por Sorte, Hanne S., Osnes, Liv T., Fevang, Børre, Aukrust, Pål, Erichsen, Hans C., Backe, Paul H., Abrahamsen, Tore G., Kittang, Ole B., Øverland, Torstein, Jhangiani, Shalini N., Muzny, Donna M., Vigeland, Magnus D., Samarakoon, Pubudu, Gambin, Tomasz, Akdemir, Zeynep H. C., Gibbs, Richard A., Rødningen, Olaug K., Lyle, Robert, Lupski, James R., Stray‐Pedersen, Asbjørg
Publicado no Mol Genet Genomic Med (2016)