Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2
Beck, Christine R., Carvalho, Claudia M.B., Akdemir, Zeynep C., Sedlazeck, Fritz J., Song, Xiaofei, Meng, Qingchang, Hu, Jianhong, Doddapaneni, Harsha, Chong, Zechen, Chen, Edward S., Thornton, Philip C., Liu, Pengfei, Yuan, Bo, Withers, Marjorie, Jhangiani, Shalini N., Kalra, Divya, Walker, Kimberly, English, Adam C., Han, Yi, Chen, Ken, Muzny, Donna M., Ira, Grzegorz, Shaw, Chad A., Gibbs, Richard A., Hastings, P.J., Lupski, James R.
Published in Cell (07.03.2019)
Published in Cell (07.03.2019)
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Journal Article
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans
Vetrini, Francesco, D’Alessandro, Lisa C.A., Akdemir, Zeynep C., Braxton, Alicia, Azamian, Mahshid S., Eldomery, Mohammad K., Miller, Kathryn, Kois, Chelsea, Sack, Virginia, Shur, Natasha, Rijhsinghani, Asha, Chandarana, Jignesh, Ding, Yan, Holtzman, Judy, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Eng, Christine M., Hanchard, Neil A., Harel, Tamar, Rosenfeld, Jill A., Belmont, John W., Lupski, James R., Yang, Yaping
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Journal Article
Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia
Ramasamy, Ranjith, M.D, Bakırcıoğlu, M. Emre, M.D, Cengiz, Cenk, B.S, Karaca, Ender, M.D, Scovell, Jason, B.S, Jhangiani, Shalini N., M.S, Akdemir, Zeynep C., Ph.D, Bainbridge, Matthew, Ph.D, Yu, Yao, Ph.D, Huff, Chad, Ph.D, Gibbs, Richard A., Ph.D, Lupski, James R., M.D., Ph.D, Lamb, Dolores J., Ph.D
Published in Fertility and sterility (01.08.2015)
Published in Fertility and sterility (01.08.2015)
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Journal Article
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
Burrage, Lindsay C., Charng, Wu-Lin, Eldomery, Mohammad K., Willer, Jason R., Davis, Erica E., Lugtenberg, Dorien, Zhu, Wenmiao, Leduc, Magalie S., Akdemir, Zeynep C., Azamian, Mahshid, Zapata, Gladys, Hernandez, Patricia P., Schoots, Jeroen, de Munnik, Sonja A., Roepman, Ronald, Pearring, Jillian N., Jhangiani, Shalini, Katsanis, Nicholas, Vissers, Lisenka E.L.M., Brunner, Han G., Beaudet, Arthur L., Rosenfeld, Jill A., Muzny, Donna M., Gibbs, Richard A., Eng, Christine M., Xia, Fan, Lalani, Seema R., Lupski, James R., Bongers, Ernie M.H.F., Yang, Yaping
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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Journal Article
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy
Punetha, Jaya, Karaca, Ender, Gezdirici, Alper, Lamont, Ryan E., Pehlivan, Davut, Marafi, Dana, Appendino, Juan P., Hunter, Jill V., Akdemir, Zeynep C., Fatih, Jawid M., Jhangiani, Shalini N., Gibbs, Richard A., Innes, A. Micheil, Posey, Jennifer E., Lupski, James R.
Published in Annals of clinical and translational neurology (01.08.2019)
Published in Annals of clinical and translational neurology (01.08.2019)
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Journal Article
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy
Marafi, Dana, Mitani, Tadahiro, Isikay, Sedat, Hertecant, Jozef, Almannai, Mohammed, Manickam, Kandamurugu, Abou Jamra, Rami, El‐Hattab, Ayman W., Rajah, Jaishen, Fatih, Jawid M., Du, Haowei, Karaca, Ender, Bayram, Yavuz, Punetha, Jaya, Rosenfeld, Jill A., Jhangiani, Shalini N., Boerwinkle, Eric, Akdemir, Zeynep C., Erdin, Serkan, Hunter, Jill V., Gibbs, Richard A., Pehlivan, Davut, Posey, Jennifer E., Lupski, James R.
Published in Annals of clinical and translational neurology (01.05.2020)
Published in Annals of clinical and translational neurology (01.05.2020)
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Journal Article
Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)
Chen, Shan, Jain, Mahim, Jhangiani, Shalini, Akdemir, Zeynep C, Campeau, Philippe M, Klein, Robert F, Nielson, Carrie, Dai, Hongzheng, Muzny, Donna M, Boerwinkle, Eric, Gibbs, Richard A, Orwoll, Eric S, Lupski, James R, Posey, Jennifer E, Lee, Brendan
Published in JBMR plus (01.03.2020)
Published in JBMR plus (01.03.2020)
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Journal Article
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
Gambin, Tomasz, Akdemir, Zeynep C, Yuan, Bo, Gu, Shen, Chiang, Theodore, Carvalho, Claudia M B, Shaw, Chad, Jhangiani, Shalini, Boone, Philip M, Eldomery, Mohammad K, Karaca, Ender, Bayram, Yavuz, Stray-Pedersen, Asbjørg, Muzny, Donna, Charng, Wu-Lin, Bahrambeigi, Vahid, Belmont, John W, Boerwinkle, Eric, Beaudet, Arthur L, Gibbs, Richard A, Lupski, James R
Published in Nucleic acids research (28.02.2017)
Published in Nucleic acids research (28.02.2017)
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Journal Article
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency
Chen, Anlu, Tiosano, Dov, Guran, Tulay, Baris, Hagit N, Bayram, Yavuz, Mory, Adi, Shapiro-Kulnane, Laura, Hodges, Craig A, Akdemir, Zeynep C, Turan, Serap, Jhangiani, Shalini N, van den Akker, Focco, Hoppel, Charles L, Salz, Helen K, Lupski, James R, Buchner, David A
Published in Human molecular genetics (01.06.2018)
Published in Human molecular genetics (01.06.2018)
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Journal Article
TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease
Chen, Weisheng, Lin, Jiachen, Wang, Lianlei, Li, Xiaoxin, Zhao, Sen, Liu, Jiaqi, Akdemir, Zeynep C., Zhao, Yanxue, Du, Renqian, Ye, Yongyu, Song, Xiaofei, Zhang, Yuanqiang, Yan, Zihui, Yang, Xinzhuang, Lin, Mao, Shen, Jianxiong, Wang, Shengru, Gao, Na, Yang, Ying, Liu, Ying, Li, Wenli, Liu, Jia, Zhang, Na, Yang, Xu, Xu, Yuan, Zhang, Jianguo, Delgado, Mauricio R., Posey, Jennifer E., Qiu, Guixing, Rios, Jonathan J., Liu, Pengfei, Wise, Carol A., Zhang, Feng, Wu, Zhihong, Lupski, James R., Wu, Nan
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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Journal Article
A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy
Duan, Ruizhi, Saadi, Nebal Waill, Grochowski, Christopher M., Bhadila, Ghalia, Faridoun, Afnan, Mitani, Tadahiro, Du, Haowei, Fatih, Jawid M., Jhangiani, Shalini N., Akdemir, Zeynep C., Gibbs, Richard A., Pehlivan, Davut, Posey, Jennifer E., Marafi, Dana, Lupski, James R.
Published in American journal of medical genetics. Part A (01.07.2021)
Published in American journal of medical genetics. Part A (01.07.2021)
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Journal Article
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy
Saad, Ahmed K, Marafi, Dana, Mitani, Tadahiro, Jolly, Angad, Du, Haowei, Elbendary, Hasnaa M, Jhangiani, Shalini N, Akdemir, Zeynep C, Gibbs, Richard A, Hunter, Jill V, Carvalho, Claudia M B C, Pehlivan, Davut, Posey, Jennifer E, Zaki, Maha S, Lupski, James R
Published in Brain (London, England : 1878) (01.10.2020)
Published in Brain (London, England : 1878) (01.10.2020)
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Journal Article
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
Harms, Frederike Leonie, Girisha, Katta M., Hardigan, Andrew A., Kortüm, Fanny, Shukla, Anju, Alawi, Malik, Dalal, Ashwin, Brady, Lauren, Tarnopolsky, Mark, Bird, Lynne M., Ceulemans, Sophia, Bebin, Martina, Bowling, Kevin M., Hiatt, Susan M., Lose, Edward J., Primiano, Michelle, Chung, Wendy K., Juusola, Jane, Akdemir, Zeynep C., Bainbridge, Matthew, Charng, Wu-Lin, Drummond-Borg, Margaret, Eldomery, Mohammad K., El-Hattab, Ayman W., Saleh, Mohammed A.M., Bézieau, Stéphane, Cogné, Benjamin, Isidor, Bertrand, Küry, Sébastien, Lupski, James R., Myers, Richard M., Cooper, Gregory M., Kutsche, Kerstin
Published in American journal of human genetics (05.01.2017)
Published in American journal of human genetics (05.01.2017)
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Journal Article
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
Zhang, Chaofan, Mazzeu, Juliana F., Eisfeldt, Jesper, Grochowski, Christopher M., White, Janson, Akdemir, Zeynep C., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lindstrand, Anna, Lupski, James R., Sutton, V. Reid, Carvalho, Claudia M. B.
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
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Journal Article
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome
Karaca, Ender, Yuregir, Ozge O., Bozdogan, Sevcan T., Aslan, Huseyin, Pehlivan, Davut, Jhangiani, Shalini N., Akdemir, Zeynep C., Gambin, Tomasz, Bayram, Yavuz, Atik, Mehmed M., Erdin, Serkan, Muzny, Donna, Gibbs, Richard A., Lupski, James R.
Published in American journal of medical genetics. Part A (01.11.2015)
Published in American journal of medical genetics. Part A (01.11.2015)
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Journal Article
Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins
Jehee, Fernanda S., de Oliveira, Valdirene T., Gurgel‐Giannetti, Juliana, Pietra, Rafaella X., Rubatino, Fernando V. M., Carobin, Natália V., Vianna, Gabrielle S., de Freitas, Mariana L., Fernandes, Karla S., Ribeiro, Beatriz S. V., Brüggenwirth, Hennie T., Ali‐Amin, Roza, White, Janson J., Akdemir, Zeynep C., Jhangiani, Shalini N., Gibbs, Richard A., Lupski, James R., Varela, Monica C., Koiffmann, Célia, Rosenberg, Carla, Carvalho, Cláudia M. B.
Published in American journal of medical genetics. Part A (01.09.2017)
Published in American journal of medical genetics. Part A (01.09.2017)
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Journal Article
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis
Dinckan, Nuriye, Du, Renqian, Akdemir, Zeynep C., Bayram, Yavuz, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Guven, Yeliz, Aktoren, Oya, Kayserili, Hulya, Boerwinkle, Eric, Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Uyguner, Zehra O., Letra, Ariadne
Published in American journal of medical genetics. Part A (01.04.2018)
Published in American journal of medical genetics. Part A (01.04.2018)
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Journal Article
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T‐cell dysfunction
Sorte, Hanne S., Osnes, Liv T., Fevang, Børre, Aukrust, Pål, Erichsen, Hans C., Backe, Paul H., Abrahamsen, Tore G., Kittang, Ole B., Øverland, Torstein, Jhangiani, Shalini N., Muzny, Donna M., Vigeland, Magnus D., Samarakoon, Pubudu, Gambin, Tomasz, Akdemir, Zeynep H. C., Gibbs, Richard A., Rødningen, Olaug K., Lyle, Robert, Lupski, James R., Stray‐Pedersen, Asbjørg
Published in Molecular genetics & genomic medicine (01.11.2016)
Published in Molecular genetics & genomic medicine (01.11.2016)
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Journal Article
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
Eldomery, Mohammad K, Akdemir, Zeynep C, Vögtle, F-Nora, Charng, Wu-Lin, Mulica, Patrycja, Rosenfeld, Jill A, Gambin, Tomasz, Gu, Shen, Burrage, Lindsay C, Al Shamsi, Aisha, Penney, Samantha, Jhangiani, Shalini N, Zimmerman, Holly H, Muzny, Donna M, Wang, Xia, Tang, Jia, Medikonda, Ravi, Ramachandran, Prasanna V, Wong, Lee-Jun, Boerwinkle, Eric, Gibbs, Richard A, Eng, Christine M, Lalani, Seema R, Hertecant, Jozef, Rodenburg, Richard J, Abdul-Rahman, Omar A, Yang, Yaping, Xia, Fan, Wang, Meng C, Lupski, James R, Meisinger, Chris, Sutton, V Reid
Published in Genome medicine (01.11.2016)
Published in Genome medicine (01.11.2016)
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Journal Article
Molecular diagnostic experience of whole-exome sequencing in adult patients
Posey, Jennifer E., Rosenfeld, Jill A., James, Regis A., Bainbridge, Matthew, Niu, Zhiyv, Wang, Xia, Dhar, Shweta, Wiszniewski, Wojciech, Akdemir, Zeynep H.C., Gambin, Tomasz, Xia, Fan, Person, Richard E., Walkiewicz, Magdalena, Shaw, Chad A., Sutton, V. Reid, Beaudet, Arthur L., Muzny, Donna, Eng, Christine M., Yang, Yaping, Gibbs, Richard A., Lupski, James R., Boerwinkle, Eric, Plon, Sharon E.
Published in Genetics in medicine (01.07.2016)
Published in Genetics in medicine (01.07.2016)
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