תוצאות חיפוש - 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 מאת 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 מאת 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 מאת 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 מאת 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 מאת 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 מאת 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 מאת 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 מאת 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 מאת 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 מאת 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 מאת 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 מאת 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 מאת 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 מאת 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 מאת 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 מאת 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 מאת 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 מאת 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 מאת 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 מאת 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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