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Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease
Jolly, Angad, Bayram, Yavuz, Turan, Serap, Aycan, Zehra, Tos, Tulay, Abali, Zehra Yavas, Hacihamdioglu, Bulent, Coban Akdemir, Zeynep Hande, Hijazi, Hadia, Bas, Serpil, Atay, Zeynep, Guran, Tulay, Abali, Saygin, Bas, Firdevs, Darendeliler, Feyza, Colombo, Roberto, Barakat, Tahsin Stefan, Rinne, Tuula, White, Janson J, Yesil, Gozde, Gezdirici, Alper, Gulec, Elif Yilmaz, Karaca, Ender, Pehlivan, Davut, Jhangiani, Shalini N, Muzny, Donna M, Poyrazoglu, Sukran, Bereket, Abdullah, Gibbs, Richard A, Posey, Jennifer E, Lupski, James R
Published in The journal of clinical endocrinology and metabolism (01.08.2019)
Published in The journal of clinical endocrinology and metabolism (01.08.2019)
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Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
Li, Lin, Jiao, Xiaodong, D’Atri, Ilaria, Ono, Fumihito, Nelson, Ralph, Chan, Chi-Chao, Nakaya, Naoki, Ma, Zhiwei, Ma, Yan, Cai, Xiaoying, Zhang, Longhua, Lin, Siying, Hameed, Abdul, Chioza, Barry A., Hardy, Holly, Arno, Gavin, Hull, Sarah, Khan, Muhammad Imran, Fasham, James, Harlalka, Gaurav V., Michaelides, Michel, Moore, Anthony T., Coban Akdemir, Zeynep Hande, Jhangiani, Shalini, Lupski, James R., Cremers, Frans P. M., Qamar, Raheel, Salman, Ahmed, Chilton, John, Self, Jay, Ayyagari, Radha, Kabir, Firoz, Naeem, Muhammad Asif, Ali, Muhammad, Akram, Javed, Sieving, Paul A., Riazuddin, Sheikh, Baple, Emma L., Riazuddin, S. Amer, Crosby, Andrew H., Hejtmancik, J. Fielding
Published in PLoS genetics (29.08.2018)
Published in PLoS genetics (29.08.2018)
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GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
Lodder, Elisabeth M., De Nittis, Pasquelena, Koopman, Charlotte D., Wiszniewski, Wojciech, Moura de Souza, Carolina Fischinger, Lahrouchi, Najim, Guex, Nicolas, Napolioni, Valerio, Tessadori, Federico, Beekman, Leander, Nannenberg, Eline A., Boualla, Lamiae, Blom, Nico A., de Graaff, Wim, Kamermans, Maarten, Cocciadiferro, Dario, Malerba, Natascia, Mandriani, Barbara, Akdemir, Zeynep Hande Coban, Fish, Richard J., Eldomery, Mohammad K., Ratbi, Ilham, Wilde, Arthur A.M., de Boer, Teun, Simonds, William F., Neerman-Arbez, Marguerite, Sutton, V. Reid, Kok, Fernando, Lupski, James R., Reymond, Alexandre, Bezzina, Connie R., Bakkers, Jeroen, Merla, Giuseppe
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
Lodder, Elisabeth M., De Nittis, Pasquelena, Koopman, Charlotte D., Wiszniewski, Wojciech, Moura de Souza, Carolina Fischinger, Lahrouchi, Najim, Guex, Nicolas, Napolioni, Valerio, Tessadori, Federico, Beekman, Leander, Nannenberg, Eline A., Boualla, Lamiae, Blom, Nico A., de Graaff, Wim, Kamermans, Maarten, Cocciadiferro, Dario, Malerba, Natascia, Mandriani, Barbara, Coban Akdemir, Zeynep Hande, Fish, Richard J., Eldomery, Mohammad K., Ratbi, Ilham, Wilde, Arthur A.M., de Boer, Teun, Simonds, William F., Neerman-Arbez, Marguerite, Sutton, V. Reid, Kok, Fernando, Lupski, James R., Reymond, Alexandre, Bezzina, Connie R., Bakkers, Jeroen, Merla, Giuseppe
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene
Bekheirnia, Mir Reza, Bekheirnia, Nasim, Bainbridge, Matthew N., Gu, Shen, Coban Akdemir, Zeynep Hande, Gambin, Tomek, Janzen, Nicolette K., Jhangiani, Shalini N., Muzny, Donna M., Michael, Mini, Brewer, Eileen D., Elenberg, Ewa, Kale, Arundhati S., Riley, Alyssa A., Swartz, Sarah J., Scott, Daryl A., Yang, Yaping, Srivaths, Poyyapakkam R., Wenderfer, Scott E., Bodurtha, Joann, Applegate, Carolyn D., Velinov, Milen, Myers, Angela, Borovik, Lior, Craigen, William J., Hanchard, Neil A., Rosenfeld, Jill A., Lewis, Richard Alan, Gonzales, Edmond T., Gibbs, Richard A., Belmont, John W., Roth, David R., Eng, Christine, Braun, Michael C., Lupski, James R., Lamb, Dolores J.
Published in Genetics in medicine (01.04.2017)
Published in Genetics in medicine (01.04.2017)
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Comprehensive genomic analysis of patients with disorders of cerebral cortical development
Wiszniewski, Wojciech, Gawlinski, Pawel, Gambin, Tomasz, Bekiesinska-Figatowska, Monika, Obersztyn, Ewa, Antczak-Marach, Dorota, Akdemir, Zeynep Hande Coban, Harel, Tamar, Karaca, Ender, Jurek, Marta, Sobecka, Katarzyna, Nowakowska, Beata, Kruk, Malgorzata, Terczynska, Iwona, Goszczanska-Ciuchta, Alicja, Rudzka-Dybala, Mariola, Jamroz, Ewa, Pyrkosz, Antoni, Jakubiuk-Tomaszuk, Anna, Iwanowski, Piotr, Gieruszczak-Bialek, Dorota, Piotrowicz, Malgorzata, Sasiadek, Maria, Kochanowska, Iwona, Gurda, Barbara, Steinborn, Barbara, Dawidziuk, Mateusz, Castaneda, Jennifer, Wlasienko, Pawel, Bezniakow, Natalia, Jhangiani, Shalini N., Hoffman-Zacharska, Dorota, Bal, Jerzy, Szczepanik, Elzbieta, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R.
Published in European journal of human genetics : EJHG (01.08.2018)
Published in European journal of human genetics : EJHG (01.08.2018)
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