Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome

Autor Wild, K. Taylor, Gordon, Tia, Bhoj, Elizabeth J., Du, Haowei, Jhangiani, Shalini N., Posey, Jennifer E., Lupski, James R., Scott, Daryl A., Zackai, Elaine H.
Vydáno v Am J Med Genet A (2020)

Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: clinical gene panels versus genome-wide approaches to molecular diagnosis

Autor Punetha, Jaya, Mackay-Loder, Loren, Harel, Tamar, Coban-Akdemir, Zeynep, Jhangiani, Shalini N, Gibbs, Richard A, Lee, Ian, Terespolsky, Deborah, Lupski, James R, Posey, Jennifer E
Vydáno v Mol Genet Metab (2018)

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

Autor 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.
Vydáno v Am J Med Genet A (2015)

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

Autor 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
Vydáno 2014

Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle

Autor Bainbridge, Matthew N, Cooney, Erin, Miller, Marcus, Kennedy, Adam, Wulff, Jacob, Donti, Taraka, Jhangiani, Shalini N, Gibbs, Richard A, Elsea, Sarah H., Porter, Brenda E., Graham, Brett H.
Vydáno v Mol Genet Metab (2017)

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

Autor 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
Vydáno v J Clin Res Pediatr Endocrinol (2019)

Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity

Autor Karolak, Justyna A., Szafranski, Przemyslaw, Kilner, David, Patel, Chirag, Scurry, Bonnie, Kinning, Esther, Chandler, Kate, Jhangiani, Shalini N., Akdemir, Zeynep H. Coban, Lupski, James R., Popek, Edwina, Stankiewicz, Paweł
Vydáno v Clin Genet (2019)

A COMPREHENSIVE CLINICAL AND GENETIC STUDY IN 127 PATIENTS WITH ID IN KINSHASA, DR CONGO

Autor Lumaka, Aimé, Race, Valerie, Peeters, Hilde, Corveleyn, Anniek, Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Xiaofei, Song, Mubungu, Gerrye, Posey, Jennifer, Lupski, James R, Vermeesch, Joris R, Lukusa, Prosper, Devriendt, Koenraad
Vydáno v Am J Med Genet A (2018)

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

Autor 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.
Vydáno v Front Pediatr (2017)

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

Autor 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.
Vydáno v Fertil Steril (2015)

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

Autor 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
Vydáno v Pediatr Neurol (2016)

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

Autor 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.
Vydáno 2013

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

Autor 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.
Vydáno v Am J Med Genet A (2015)

Exome variant discrepancies due to reference-genome differences

Autor Li, He, Dawood, Moez, Khayat, Michael M., Farek, Jesse R., Jhangiani, Shalini N., Khan, Ziad M., Mitani, Tadahiro, Coban-Akdemir, Zeynep, Lupski, James R., Venner, Eric, Posey, Jennifer E., Sabo, Aniko, Gibbs, Richard A.
Vydáno v Am J Hum Genet (2021)

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy

Autor 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.
Vydáno v Neurol Genet (2021)

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

Autor 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.
Vydáno v Genet Med (2016)

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

Autor 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
Vydáno 2014

Secondary findings and carrier test frequencies in a large multiethnic sample

Autor 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
Vydáno v Genome Med (2015)

Phenotypic Expansion Illuminates Multilocus Pathogenic Variation

Autor 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.
Vydáno v Genet Med (2018)

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

Autor 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.
Vydáno v Am J Med Genet A (2014)