Αποτελέσματα αναζήτησης - 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 από 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 από 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 από 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 από 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 από 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 από 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 από 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 από 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 από 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 από 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 από 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 από 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 από 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 από 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 από 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 από 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 από 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 από 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 από 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 από 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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