A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

por Oswiecimska, Joanna, Dawidziuk, Mateusz, Gambin, Tomasz, Ziora, Katarzyna, Marek, Marta, Rzonca, Sylwia, Guilbride, D. Lys, Jhangiani, Shalini N., Obuchowicz, Anna, Sikora, Alicja, Lupski, James R., Wiszniewski, Wojciech, Gawlinski, Pawel
Publicado 2019

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 2017

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

por Wohler, Elizabeth, Martin, Renan, Griffith, Sean, Rodrigues, Eliete da S., Antonescu, Corina, Posey, Jennifer E., Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Doheny, Kimberly F., Lupski, James R., Valle, David, Hamosh, Ada, Sobreira, Nara
Publicado 2021

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy

por Calame, Daniel G., Fatih, Jawid, Herman, Isabella, Akdemir, Zeynep Coban, Du, Haowei, Jhangiani, Shalini N., Gibbs, Richard A., Marafi, Dana, Pehlivan, Davut, Posey, Jennifer E., Lotze, Timothy, Mancias, Pedro, Bhattacharjee, Meenakshi Bidwai, Lupski, James R.
Publicado 2021

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 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 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 2015

Phenotypic Expansion Illuminates Multilocus Pathogenic Variation

por Karaca, Ender, Posey, Jennifer E., Akdemir, Zeynep Coban, Pehlivan, Davut, Harel, Tamar, Jhangiani, Shalini N., Bayram, Yavuz, Song, Xiaofei, Bahrambeigi, Vahid, Yuregir, Ozge Ozalp, Bozdogan, Sevcan, Yesil, Gozde, Isikay, Sedat, Muzny, Donna, Gibbs, Richard A., Lupski, James R.
Publicado 2018

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

por Punetha, Jaya, Karaca, Ender, Gezdirici, Alper, Lamont, Ryan E., Pehlivan, Davut, Marafi, Dana, Appendino, Juan P., Hunter, Jill V., Akdemir, Zeynep C., Fatih, Jawid M., Jhangiani, Shalini N., Gibbs, Richard A., Innes, A. Micheil, Posey, Jennifer E., Lupski, James R.
Publicado 2019

Variant‐level matching for diagnosis and discovery: Challenges and opportunities

por Rodrigues, Eliete da S., Griffith, Sean, Martin, Renan, Antonescu, Corina, Posey, Jennifer E., Coban‐Akdemir, Zeynep, Jhangiani, Shalini N., Doheny, Kimberly F., Lupski, James R., Valle, David, Bamshad, Michael J., Hamosh, Ada, Sheffer, Assaf, Chong, Jessica X., Einhorn, Yaron, Cupak, Miro, Sobreira, Nara
Publicado 2022

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

por Calame, Daniel G., Fatih, Jawid M., Herman, Isabella, Coban‐Akdemir, Zeynep, Du, Haowei, Mitani, Tadahiro, Jhangiani, Shalini N., Marafi, Dana, Gibbs, Richard A., Posey, Jennifer E., Mehta, Vidya P., Mohila, Carrie A., Abid, Farida, Lotze, Timothy E., Pehlivan, Davut, Adesina, Adekunle M., Lupski, James R.
Publicado 2021

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 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 2015

Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features

por Efthymiou, Stephanie, Herman, Isabella, Rahman, Fatima, Anwar, Najwa, Maroofian, Reza, Yip, Janice, Mitani, Tadahiro, Calame, Daniel G., Hunter, Jill V., Sutton, V. Reid, Yilmaz Gulec, Elif, Duan, Ruizhi, Fatih, Jawid M., Marafi, Dana, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Posey, Jennifer E., Maqbool, Shazia, Lupski, James R., Houlden, Henry
Publicado 2021

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 2016

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

por Gambin, Tomasz, Liu, Qian, Karolak, Justyna A., Grochowski, Christopher M., Xie, Nina G., Wu, Lucia R., Yan, Yan Helen, Cao, Ye, Akdemir, Zeynep H. Coban, Wilson, Theresa A., Jhangiani, Shalini N., Chen, Ed, Eng, Christine M., Muzny, Donna, Posey, Jennifer E., Yang, Yaping, Zhang, David Y., Shaw, Chad, Liu, Pengfei, Lupski, James R., Stankiewicz, Paweł
Publicado 2020

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics

por Loviglio, Maria Nicla, Beck, Christine R., White, Janson J., Leleu, Marion, Harel, Tamar, Guex, Nicolas, Niknejad, Anne, Bi, Weimin, Chen, Edward S., Crespo, Isaac, Yan, Jiong, Charng, Wu-Lin, Gu, Shen, Fang, Ping, Coban-Akdemir, Zeynep, Shaw, Chad A., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Rougemont, Jacques, Xenarios, Ioannis, Lupski, James R., Reymond, Alexandre
Publicado 2016

Sheep genome functional annotation reveals proximal regulatory elements contributed to the evolution of modern breeds

por Naval-Sanchez, Marina, Nguyen, Quan, McWilliam, Sean, Porto-Neto, Laercio R., Tellam, Ross, Vuocolo, Tony, Reverter, Antonio, Perez-Enciso, Miguel, Brauning, Rudiger, Clarke, Shannon, McCulloch, Alan, Zamani, Wahid, Naderi, Saeid, Rezaei, Hamid Reza, Pompanon, Francois, Taberlet, Pierre, Worley, Kim C., Gibbs, Richard A., Muzny, Donna M., Jhangiani, Shalini N., Cockett, Noelle, Daetwyler, Hans, Kijas, James
Publicado 2018

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

por Carvalho, Claudia M. B., Coban-Akdemir, Zeynep, Hijazi, Hadia, Yuan, Bo, Pendleton, Matthew, Harrington, Eoghan, Beaulaurier, John, Juul, Sissel, Turner, Daniel J., Kanchi, Rupa S., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Stankiewicz, Pawel, Belmont, John W., Shaw, Chad A., Cheung, Sau Wai, Hanchard, Neil A., Sutton, V. Reid, Bader, Patricia I., Lupski, James R.
Publicado 2019

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

por Marafi, Dana, Mitani, Tadahiro, Isikay, Sedat, Hertecant, Jozef, Almannai, Mohammed, Manickam, Kandamurugu, Abou Jamra, Rami, El‐Hattab, Ayman W., Rajah, Jaishen, Fatih, Jawid M., Du, Haowei, Karaca, Ender, Bayram, Yavuz, Punetha, Jaya, Rosenfeld, Jill A., Jhangiani, Shalini N., Boerwinkle, Eric, Akdemir, Zeynep C., Erdin, Serkan, Hunter, Jill V., Gibbs, Richard A., Pehlivan, Davut, Posey, Jennifer E., Lupski, James R.
Publicado 2020