Resultados da busca - Coban-Akdemir, Zeynep

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 por 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

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Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements por Song, Xiaofei, Beck, Christine R., Du, Renqian, Campbell, Ian M., Coban-Akdemir, Zeynep, Gu, Shen, Breman, Amy M., Stankiewicz, Pawel, Ira, Grzegorz, Shaw, Chad A., Lupski, James R.

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

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Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168 por Chinn, Ivan K., Sanders, Robert P., Stray-Pedersen, Asbjørg, Coban-Akdemir, Zeynep H., Kim, Vy Hong-Diep, Dadi, Harjit, Roifman, Chaim M., Quigg, Troy, Lupski, James R., Orange, Jordan S., Hanson, I. Celine

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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

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Exome variant discrepancies due to reference-genome differences por 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.

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Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature por Contreras, Josefina Longeri, Ladino, Mabel A., Aránguiz, Katherine, Mendez, Gonzalo P., Coban-Akdemir, Zeynep, Yuan, Bo, Gibbs, Richard A., Burrage, Lindsay C., Lupski, James R., Chinn, Ivan K., Vogel, Tiphanie P., Orange, Jordan S., Poli, M. Cecilia

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Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant por Saad, Ahmed K., Marafi, Dana, Mitani, Tadahiro, Du, Haowei, Rafat, Karima, Fatih, Jawid M., Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Gibbs, Richard A., Pehlivan, Davut, Hunter, Jill V., Posey, Jennifer E., Zaki, Maha S., Lupski, James R.

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Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome por Aird, Alejandra, Lagos, Macarena, Vargas-Hernández, Alexander, Posey, Jennifer E., Coban-Akdemir, Zeynep, Jhangiani, Shalini, Mace, Emily M., Reyes, Anaid, King, Alejandra, Cavagnaro, Felipe, Forbes, Lisa R., Chinn, Ivan K., Lupski, James R., Orange, Jordan S., Poli, Maria Cecilia

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Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation por Burk, Caitlin M., Coffey, Kara E., Mace, Emily M., Bostwick, Bret L., Chinn, Ivan K., Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Lupski, James R., Ortiz, Damara, Barnum, Jessie L., Allen, Steven W., Robertson, Leanna-Marie, Orange, Jordan S., Chong, Hey J.

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Risk of sudden cardiac death in EXOSC5-related disease por Calame, Daniel G., Herman, Isabella, Fatih, Jawid M., Du, Haowei, Tayfun, Gulsen Akay, Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Milewicz, Dianna M., Gibbs, Richard A., Posey, Jennifer E., Marafi, Dana, Hunter, Jill V., Fan, Yuxin, Lupski, James R., Miyake, Christina Y.

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Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family por Taşdelen, Elifcan, Calame, Daniel G., Akay, Gulsen, Mitani, Tadahiro, Fatih, Jawid M., Herman, Isabella, Du, Haowei, Coban-Akdemir, Zeynep, Marafi, Dana, Jhangiani, Shalini N., Posey, Jennifer E., Gibbs, Richard A., Altıparmak, Taylan, Kutlay, Nüket Yürür, Lupski, James R., Pehlivan, Davut

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Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses por Herman, Isabella, Jolly, Angad, Du, Haowei, Dawood, Moez, Abdel-Salam, Ghada M. H., Marafi, Dana, Mitani, Tadahiro, Calame, Daniel G., Coban-Akdemir, Zeynep, Fatih, Jawid M., Hegazy, Ibrahim, Jhangiani, Shalini N., Gibbs, Richard A., Pehlivan, Davut, Posey, Jennifer E., Lupski, James R.

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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

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Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis por Du, Renqian, Dinckan, Nuriye, Song, Xiaofei, Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Guven, Yeliz, Aktoren, Oya, Kayserili, Hulya, Petty, Lauren E., Muzny, Donna M., Below, Jennifer E., Boerwinkle, Eric, Wu, Nan, Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Letra, Ariadne, Uyguner, Z. Oya

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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.

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Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles por Coban-Akdemir, Zeynep, White, Janson J., Song, Xiaofei, Jhangiani, Shalini N., Fatih, Jawid M., Gambin, Tomasz, Bayram, Yavuz, Chinn, Ivan K., Karaca, Ender, Punetha, Jaya, Poli, Cecilia, Boerwinkle, Eric, Shaw, Chad A., Orange, Jordan S., Gibbs, Richard A., Lappalainen, Tuuli, Lupski, James R., Carvalho, Claudia M.B.

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Mutations in PI3K110δ cause impaired NK cell function partially rescued by rapamycin treatment por Ruiz-García, Raquel, Vargas-Hernandez, Alexander, Chinn, Ivan K., Angelo, Laura S., Cao, Tram N., Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Meng, Qingchang, Forbes, Lisa R., Muzny, Donna M., Allende, Luis M., Ehlayel, Mohammed S., Gibbs, Richard A., Lupski, James R., Uzel, Gulbu, Orange, Jordan S., Mace, Emily M.

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Myc and SAGA rewire an alternative splicing network during early somatic cell reprogramming por Hirsch, Calley L., Coban Akdemir, Zeynep, Wang, Li, Jayakumaran, Gowtham, Trcka, Dan, Weiss, Alexander, Hernandez, J. Javier, Pan, Qun, Han, Hong, Xu, Xueping, Xia, Zheng, Salinger, Andrew P., Wilson, Marenda, Vizeacoumar, Frederick, Datti, Alessandro, Li, Wei, Cooney, Austin J., Barton, Michelle C., Blencowe, Benjamin J., Wrana, Jeffrey L., Dent, Sharon Y.R.

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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation por Posey, Jennifer E., Harel, Tamar, Liu, Pengfei, Rosenfeld, Jill A., James, Regis A., Coban Akdemir, Zeynep H., Walkiewicz, Magdalena, Bi, Weimin, Xiao, Rui, Ding, Yan, Xia, Fan, Beaudet, Arthur L., Muzny, Donna M., Gibbs, Richard A., Boerwinkle, Eric, Eng, Christine M., Sutton, V. Reid, Shaw, Chad A., Plon, Sharon E., Yang, Yaping, Lupski, James R.

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