Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
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
Published in The New England journal of medicine (05.01.2017)
Published in The New England journal of medicine (05.01.2017)
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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Chong, Jessica X., Buckingham, Kati J., Jhangiani, Shalini N., Boehm, Corinne, Sobreira, Nara, Smith, Joshua D., Harrell, Tanya M., McMillin, Margaret J., Wiszniewski, Wojciech, Gambin, Tomasz, Coban Akdemir, Zeynep H., Doheny, Kimberly, Scott, Alan F., Avramopoulos, Dimitri, Chakravarti, Aravinda, Hoover-Fong, Julie, Mathews, Debra, Witmer, P. Dane, Ling, Hua, Hetrick, Kurt, Watkins, Lee, Patterson, Karynne E., Reinier, Frederic, Blue, Elizabeth, Muzny, Donna, Kircher, Martin, Bilguvar, Kaya, López-Giráldez, Francesc, Sutton, V. Reid, Tabor, Holly K., Leal, Suzanne M., Gunel, Murat, Mane, Shrikant, Gibbs, Richard A., Boerwinkle, Eric, Hamosh, Ada, Shendure, Jay, Lupski, James R., Lifton, Richard P., Valle, David, Nickerson, Deborah A., Bamshad, Michael J.
Published in American journal of human genetics (06.08.2015)
Published in American journal of human genetics (06.08.2015)
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Insights into genetics, human biology and disease gleaned from family based genomic studies
Posey, Jennifer E., O’Donnell-Luria, Anne H., Chong, Jessica X., Harel, Tamar, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Buyske, Steven, Pehlivan, Davut, Carvalho, Claudia M. B., Baxter, Samantha, Sobreira, Nara, Liu, Pengfei, Wu, Nan, Rosenfeld, Jill A., Kumar, Sushant, Avramopoulos, Dimitri, White, Janson J., Doheny, Kimberly F., Witmer, P. Dane, Boehm, Corinne, Sutton, V. Reid, Muzny, Donna M., Boerwinkle, Eric, Günel, Murat, Nickerson, Deborah A., Mane, Shrikant, MacArthur, Daniel G., Gibbs, Richard A., Hamosh, Ada, Lifton, Richard P., Matise, Tara C., Rehm, Heidi L., Gerstein, Mark, Bamshad, Michael J., Valle, David, Lupski, James R.
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
Ngo, Kathie J., Rexach, Jessica E., Lee, Hane, Petty, Lauren E., Perlman, Susan, Valera, Juliana M., Deignan, Joshua L., Mao, Yuanming, Aker, Mamdouh, Posey, Jennifer E., Jhangiani, Shalini N., Coban‐Akdemir, Zeynep H., Boerwinkle, Eric, Muzny, Donna, Nelson, Alexandra B., Hassin‐Baer, Sharon, Poke, Gemma, Neas, Katherine, Geschwind, Michael D., Grody, Wayne W., Gibbs, Richard, Geschwind, Daniel H., Lupski, James R., Below, Jennifer E., Nelson, Stanley F., Fogel, Brent L.
Published in Human mutation (01.02.2020)
Published in Human mutation (01.02.2020)
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Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
Gambin, Tomasz, Liu, Qian, Karolak, Justyna A., Grochowski, Christopher M., Xie, Nina G., Wu, Lucia R., Yan, Yan Helen, Cao, Ye, Coban Akdemir, Zeynep H., 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
Published in Genetics in medicine (01.11.2020)
Published in Genetics in medicine (01.11.2020)
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AD-Syn-Net: systematic identification of Alzheimer’s disease-associated mutation and co-mutation vulnerabilities via deep learning
Pan, Xingxin, Coban Akdemir, Zeynep H, Gao, Ruixuan, Jiang, Xiaoqian, Sheynkman, Gloria M, Wu, Erxi, Huang, Jason H, Sahni, Nidhi, Yi, S Stephen
Published in Briefings in bioinformatics (19.03.2023)
Published in Briefings in bioinformatics (19.03.2023)
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Biallelic variants in KIF14 cause intellectual disability with microcephaly
Makrythanasis, Periklis, Maroofian, Reza, Stray-Pedersen, Asbjørg, Musaev, Damir, Zaki, Maha S, Mahmoud, Iman G, Selim, Laila, Elbadawy, Amera, Jhangiani, Shalini N, Coban Akdemir, Zeynep H, Gambin, Tomasz, Sorte, Hanne S, Heiberg, Arvid, McEvoy-Venneri, Jennifer, James, Kiely N, Stanley, Valentina, Belandres, Denice, Guipponi, Michel, Santoni, Federico A, Ahangari, Najmeh, Tara, Fatemeh, Doosti, Mohammad, Iwaszkiewicz, Justyna, Zoete, Vincent, Backe, Paul Hoff, Hamamy, Hanan, Gleeson, Joseph G, Lupski, James R, Karimiani, Ehsan Ghayoor, Antonarakis, Stylianos E
Published in European journal of human genetics : EJHG (01.03.2018)
Published in European journal of human genetics : EJHG (01.03.2018)
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Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs
Szafranski, Przemyslaw, Coban-Akdemir, Zeynep H., Rupps, Rosemarie, Grazioli, Serge, Wensley, David, Jhangiani, Shalini N., Popek, Edwina, Lee, Anna F., Lupski, James R., Boerkoel, Cornelius F., Stankiewicz, Paweł
Published in American journal of medical genetics. Part A (01.09.2016)
Published in American journal of medical genetics. Part A (01.09.2016)
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Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity
Karolak, Justyna A., Szafranski, Przemyslaw, Kilner, David, Patel, Chirag, Scurry, Bonnie, Kinning, Esther, Chandler, Kate, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Lupski, James R., Popek, Edwina, Stankiewicz, Paweł
Published in Clinical genetics (01.10.2019)
Published in Clinical genetics (01.10.2019)
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Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID
Kuhny, Marcel, Forbes, Lisa R, Çakan, Elif, Vega-Loza, Andrea, Kostiuk, Valentyna, Dinesh, Ravi K, Glauzy, Salomé, Stray-Pedersen, Asbjorg, Pezzi, Ashley E, Hanson, I Celine, Vargas-Hernandez, Alexander, Xu, Mina LuQuing, Coban-Akdemir, Zeynep H, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, Chinn, Ivan K, Schatz, David G, Orange, Jordan S, Meffre, Eric
Published in The Journal of clinical investigation (01.08.2020)
Published in The Journal of clinical investigation (01.08.2020)
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AI-DrugNet: A network-based deep learning model for drug repurposing and combination therapy in neurological disorders
Pan, Xingxin, Yun, Jun, Coban Akdemir, Zeynep H., Jiang, Xiaoqian, Wu, Erxi, Huang, Jason H., Sahni, Nidhi, Yi, S. Stephen
Published in Computational and structural biotechnology journal (01.01.2023)
Published in Computational and structural biotechnology journal (01.01.2023)
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Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation
Coban‐Akdemir, Zeynep H., Charng, Wu‐Lin, Azamian, Mahshid, Paine, Ingrid S., Punetha, Jaya, Grochowski, Christopher M., Gambin, Tomasz, Valdes, Santiago O., Cannon, Bryan, Zapata, Gladys, Hernandez, Patricia P., Jhangiani, Shalini, Doddapaneni, Harsha, Hu, Jianhong, Boricha, Fatima, Muzny, Donna M., Boerwinkle, Eric, Yang, Yaping, Gibbs, Richard A., Posey, Jennifer E., Wehrens, Xander H. T., Belmont, John W., Kim, Jeffrey J., Miyake, Christina Y., Lupski, James R., Lalani, Seema R.
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
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Journal Article
Gain-of-Function Variomics and Multi-omics Network Biology for Precision Medicine
Li, Mark M, Awasthi, Sharad, Ghosh, Sumanta, Bisht, Deepa, Coban Akdemir, Zeynep H, Sheynkman, Gloria M, Sahni, Nidhi, Yi, S Stephen
Published in Methods in molecular biology (Clifton, N.J.) (2023)
Published in Methods in molecular biology (Clifton, N.J.) (2023)
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Journal Article
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Halim, Danny, Brosens, Erwin, Muller, Françoise, Wangler, Michael F., Beaudet, Arthur L., Lupski, James R., Akdemir, Zeynep H. Coban, Doukas, Michael, Stoop, Hans J., de Graaf, Bianca M., Brouwer, Rutger W.W., van Ijcken, Wilfred F.J., Oury, Jean-François, Rosenblatt, Jonathan, Burns, Alan J., Tibboel, Dick, Hofstra, Robert M.W., Alves, Maria M.
Published in American journal of human genetics (06.07.2017)
Published in American journal of human genetics (06.07.2017)
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A Genocentric Approach to Discovery of Mendelian Disorders
Hansen, Adam W., Murugan, Mullai, Li, He, Khayat, Michael M., Wang, Liwen, Rosenfeld, Jill, Andrews, B. Kim, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Sedlazeck, Fritz J., Ashley-Koch, Allison E., Liu, Pengfei, Muzny, Donna M., Allori, Alexander, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Boyd, Brita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Ellestad, Sarah, Fisher, Kimberley, French, Amanda, Gallentine, William, Goldberg, Ronald, Hill, Kevin, Kansagra, Sujay, Katsanis, Nicholas, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Purves, Todd, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Davis, Erica E., Katsanis, Nicholas, Sabo, Aniko, Posey, Jennifer E., Yang, Yaping, Wangler, Michael F., Eng, Christine M., Sutton, V. Reid, Lupski, James R., Boerwinkle, Eric, Gibbs, Richard A.
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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Journal Article
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis
Boschann, Felix, Cogulu, Ozgur, Pehlivan, Davut, Balachandran, Saranya, Vallecillo-Garcia, Pedro, Grochowski, Christopher M., Hansmeier, Nils R., Coban Akdemir, Zeynep H., Prada-Medina, Cesar A., Aykut, Ayca, Fischer-Zirnsak, Björn, Badura, Simon, Durmaz, Burak, Ozkinay, Ferda, Hägerling, René, Posey, Jennifer E., Stricker, Sigmar, Gillessen-Kaesbach, Gabriele, Spielmann, Malte, Horn, Denise, Brockmann, Knut, Lupski, James R., Kornak, Uwe, Schmidt, Julia
Published in Genetics in medicine (01.05.2023)
Published in Genetics in medicine (01.05.2023)
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Journal Article
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis
Boschann, Felix, Cogulu, Ozgur, Pehlivan, Davut, Balachandran, Saranya, Vallecillo-Garcia, Pedro, Grochowski, Christopher M., Hansmeier, Nils R., Coban Akdemir, Zeynep H., Prada-Medina, Cesar A., Aykut, Ayca, Fischer-Zirnsak, Björn, Badura, Simon, Durmaz, Burak, Ozkinay, Ferda, Hägerling, René, Posey, Jennifer E., Stricker, Sigmar, Gillessen-Kaesbach, Gabriele, Spielmann, Malte, Horn, Denise, Brockmann, Knut, Lupski, James R., Kornak, Uwe, Schmidt, Julia
Published in Genetics in medicine (01.10.2022)
Published in Genetics in medicine (01.10.2022)
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Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168
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
Published in Frontiers in immunology (26.05.2017)
Published in Frontiers in immunology (26.05.2017)
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Journal Article
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
Ngo, Kathie J., Rexach, Jessica E., Lee, Hane, Petty, Lauren E., Perlman, Susan, Valera, Juliana M., Deignan, Joshua L., Mao, Yuanming, Aker, Mamdouh, Posey, Jennifer E., Jhangiani, Shalini N., Coban‐Akdemir, Zeynep H., Boerwinkle, Eric, Muzny, Donna, Nelson, Alexandra B., Hassin‐Baer, Sharon, Poke, Gemma, Neas, Katherine, Geschwind, Michael D., Grody, Wayne W., Gibbs, Richard, Geschwind, Daniel H., Lupski, James R., Below, Jennifer E., Nelson, Stanley F., Fogel, Brent L.
Published in Human mutation (01.02.2020)
Published in Human mutation (01.02.2020)
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