Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
Luo, Xi, Rosenfeld, Jill A., Yamamoto, Shinya, Harel, Tamar, Zuo, Zhongyuan, Hall, Melissa, Wierenga, Klaas J., Pastore, Matthew T., Bartholomew, Dennis, Delgado, Mauricio R., Rotenberg, Joshua, Lewis, Richard Alan, Emrick, Lisa, Bacino, Carlos A., Eldomery, Mohammad K., Coban Akdemir, Zeynep, Xia, Fan, Yang, Yaping, Lalani, Seema R., Lotze, Timothy, Lupski, James R., Lee, Brendan, Bellen, Hugo J., Wangler, Michael F.
Published in PLoS genetics (24.07.2017)
Published in PLoS genetics (24.07.2017)
Get full text
Journal Article
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
Lalani, Seema R., Liu, Pengfei, Rosenfeld, Jill A., Watkin, Levi B., Chiang, Theodore, Leduc, Magalie S., Zhu, Wenmiao, Ding, Yan, Pan, Shujuan, Vetrini, Francesco, Miyake, Christina Y., Shinawi, Marwan, Gambin, Tomasz, Eldomery, Mohammad K., Akdemir, Zeynep Hande Coban, Emrick, Lisa, Wilnai, Yael, Schelley, Susan, Koenig, Mary Kay, Memon, Nada, Farach, Laura S., Coe, Bradley P., Azamian, Mahshid, Hernandez, Patricia, Zapata, Gladys, Jhangiani, Shalini N., Muzny, Donna M., Lotze, Timothy, Clark, Gary, Wilfong, Angus, Northrup, Hope, Adesina, Adekunle, Bacino, Carlos A., Scaglia, Fernando, Bonnen, Penelope E., Crosson, Jane, Duis, Jessica, Maegawa, Gustavo H.B., Coman, David, Inwood, Anita, McGill, Jim, Boerwinkle, Eric, Graham, Brett, Beaudet, Art, Eng, Christine M., Hanchard, Neil A., Xia, Fan, Orange, Jordan S., Gibbs, Richard A., Lupski, James R., Yang, Yaping
Published in American journal of human genetics (04.02.2016)
Published in American journal of human genetics (04.02.2016)
Get full text
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)
Get full text
Journal Article
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
Harel, Tamar, Yesil, Gozde, Bayram, Yavuz, Coban-Akdemir, Zeynep, Charng, Wu-Lin, Karaca, Ender, Al Asmari, Ali, Eldomery, Mohammad K., Hunter, Jill V., Jhangiani, Shalini N., Rosenfeld, Jill A., Pehlivan, Davut, El-Hattab, Ayman W., Saleh, Mohammed A., LeDuc, Charles A., Muzny, Donna, Boerwinkle, Eric, Gibbs, Richard A., Chung, Wendy K., Yang, Yaping, Belmont, John W., Lupski, James R.
Published in American journal of human genetics (03.03.2016)
Published in American journal of human genetics (03.03.2016)
Get full text
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)
Get full text
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)
Get full text
Journal Article
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)
Get full text
Journal Article
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
Penon‐Portmann, Monica, Eldomery, Mohammad K., Potocki, Lorraine, Marafi, Dana, Posey, Jennifer E., Coban‐Akdemir, Zeynep, Harel, Tamar, Grochowski, Christopher M., Loucks, Hailey, Devine, Walter Patrick, Van Ziffle, Jessica, Doherty, Dan, Lupski, James R., Shieh, Joseph T.
Published in American journal of medical genetics. Part A (01.08.2022)
Published in American journal of medical genetics. Part A (01.08.2022)
Get full text
Journal Article
Concurrent ependymal and ganglionic differentiation in a subset of supratentorial neuroepithelial tumors with EWSR1-PLAGL1 rearrangement
Lee, Julieann C., Koo, Selene C., Furtado, Larissa V., Breuer, Alex, Eldomery, Mohammad K., Bag, Asim K., Stow, Pat, Rose, Gary, Larkin, Trisha, Sances, Rick, Kleinschmidt-DeMasters, Bette K., Bodmer, Jenna L., Willard, Nicholas, Gokden, Murat, Dahiya, Sonika, Roberts, Kaleigh, Bertrand, Kelsey C., Moreira, Daniel C., Robinson, Giles W., Mo, Jun Qin, Ellison, David W., Orr, Brent A.
Published in Acta neuropathologica communications (03.09.2024)
Published in Acta neuropathologica communications (03.09.2024)
Get full text
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)
Get full text
Journal Article
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)
Get full text
Journal Article
Myeloid sarcomas with CBFA2T3 : GLIS2 fusion: clinicopathologic characterization of 4 cases mimicking small round cell tumors
Malik, Faizan, Eldomery, Mohammad K, Wang, Wei, Gheorghe, Gabriela, Khanlari, Mahsa
Published in American journal of clinical pathology (08.03.2025)
Published in American journal of clinical pathology (08.03.2025)
Get full text
Journal Article
Novel ACTB::FER Promoter Swap Fusion Characterizes Rare Superficial Myoid/Myofibroblastic Tumors
Blackburn, Patrick R., Eldomery, Mohammad K., Pastor Loyola, Victor, Shi, Zonggao, Arnoldo, Anthony, Malik, Faizan, Santiago, Teresa, Chami, Rose
Published in Genes chromosomes & cancer (01.05.2025)
Published in Genes chromosomes & cancer (01.05.2025)
Get full text
Journal Article
Recurrent KRAS mutations in papillary renal neoplasm with reverse polarity
Al-Obaidy, Khaleel I., Eble, John N., Nassiri, Mehdi, Cheng, Liang, Eldomery, Mohammad K., Williamson, Sean R., Sakr, Wael A., Gupta, Nilesh, Hassan, Oudai, Idrees, Muhammad T., Grignon, David J.
Published in Modern pathology (01.06.2020)
Published in Modern pathology (01.06.2020)
Get full text
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)
Get full text
Journal Article
Lessons learned from additional research analyses of unsolved clinical exome cases
Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Harel, Tamar, Rosenfeld, Jill A., Gambin, Tomasz, Stray-Pedersen, Asbjørg, Küry, Sébastien, Mercier, Sandra, Lessel, Davor, Denecke, Jonas, Wiszniewski, Wojciech, Penney, Samantha, Liu, Pengfei, Bi, Weimin, Lalani, Seema R., Schaaf, Christian P., Wangler, Michael F., Bacino, Carlos A., Lewis, Richard Alan, Potocki, Lorraine, Graham, Brett H., Belmont, John W., Scaglia, Fernando, Orange, Jordan S., Jhangiani, Shalini N., Chiang, Theodore, Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Xia, Fan, Beaudet, Arthur L., Boerwinkle, Eric, Eng, Christine M., Plon, Sharon E., Sutton, V. Reid, Gibbs, Richard A., Posey, Jennifer E., Yang, Yaping, Lupski, James R.
Published in Genome medicine (21.03.2017)
Published in Genome medicine (21.03.2017)
Get full text
Journal Article
Evaluation of Bayesian point-based system on the variant classification of hereditary cancer predisposition genes
Eldomery, Mohammad K., Maciaszek, Jamie L., Cain, Taylor, Loyola, Victor Pastor, Mothi, Suraj Sarvode, Wheeler, David A., Tang, Li, Wang, Lu, Klco, Jeffery M., Blackburn, Patrick R.
Published in Genetics in medicine (01.12.2024)
Published in Genetics in medicine (01.12.2024)
Get full text
Journal Article
FOXR2 activation is not exclusive of CNS neuroblastoma
Siskar, Alexa N, Hanzlik, Emily, Cardenas, Maria F, Eldomery, Mohammad K, Pinto, Soniya, Tinkle, Christopher L, Zhang, Qunyu, Li, Xiaoyu, Lin, Tong, Dhanda, Sandeep K, Reis, Gerald, Li, Daphne, Raghavan, Ravi, Vortmeyer, Alexander, Karajannis, Matthias A, Robinson, Giles W, Onar-Thomas, Arzu, Blackburn, Patrick R, Wheeler, David A, Chiang, Jason
Published in Neuro-oncology (Charlottesville, Va.) (08.09.2025)
Published in Neuro-oncology (Charlottesville, Va.) (08.09.2025)
Get full text
Journal Article