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M

Michael M. Khayat

baylor college of medicine
H指数:15
被引数:792

个人简介

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荣誉奖项

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Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism

Xie-gibbs综合征中AHDC1缺失的长读测序和表达研究揭示了一种新的基因调控机制

HUMAN MUTATION
IF3.7
2022-09-247
OA
Chander, Varuna; Mahmoud, Medhat; Hu, Jianhong; Dardas, Zain; Grochowski, Christopher M.; Dawood, Moez; Khayat, Michael M.; Li, He; Li, Shoudong; Jhangiani, Shalini; Korchina, Viktoriya; Shen, Hua; Weissenberger, George; Meng, Qingchang; Gingras, Marie-Claude; Muzny, Donna M.; Doddapaneni, Harsha; Posey, Jennifer E.; Lupski, James R.; Sabo, Aniko; Murdock, David R.; Sedlazeck, Fritz J.; Gibbs, Richard A.
Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study (Sep, 10.1038/s41587-021-01049-5, 2021)
NATURE BIOTECHNOLOGY
IF41.7
2021-10-112
OA
Foox, Jonathan; Tighe, Scott W.; Nicolet, Charles M.; Zook, Justin M.; Byrska-Bishop, Marta; Clarke, Wayne E.; Khayat, Michael M.; Mahmoud, Medhat; Laaguiby, Phoebe K.; Herbert, Zachary T.; Warner, Derek; Grills, George S.; Jen, Jin; Levy, Shawn; Xiang, Jenny; Alonso, Alicia; Zhao, Xia; Zhang, Wenwei; Teng, Fei; Zhao, Yonggang; Lu, Haorong; Schroth, Gary P.; Narzisi, Giuseppe; Farmerie, William; Sedlazeck, Fritz J.; Baldwin, Don A.; Mason, Christopher E.
AHDC1 missense mutations in Xia-Gibbs syndrome
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2021-10-019
OAAI
Khayat, Michael M.; Hu, Jianhong; Jiang, Yunyun; Li, He; Chander, Varuna; Dawood, Moez; Hansen, Adam W.; Li, Shoudong; Friedman, Jennifer; Cross, Laura; Bijlsma, Emilia K.; Ruivenkamp, Claudia A. L.; Sansbury, Francis H.; Innis, Jeffrey W.; O'Shea, Jessica Omark; Meng, Qingchang; Rosenfeld, Jill A.; McWalter, Kirsty; Wangler, Michael F.; Lupski, James R.; Posey, Jennifer E.; Murdock, David; Gibbs, Richard A.
Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study
NATURE BIOTECHNOLOGY
IF41.7
2021-09-0969
OAAI
Foox, Jonathan; Tighe, Scott W.; Nicolet, Charles M.; Zook, Justin M.; Byrska-Bishop, Marta; Clarke, Wayne E.; Khayat, Michael M.; Mahmoud, Medhat; Laaguiby, Phoebe K.; Herbert, Zachary T.; Warner, Derek; Grills, George S.; Jen, Jin; Levy, Shawn; Xiang, Jenny; Alonso, Alicia; Zhao, Xia; Zhang, Wenwei; Teng, Fei; Zhao, Yonggang; Lu, Haorong; Schroth, Gary P.; Narzisi, Giuseppe; Farmerie, William; Sedlazeck, Fritz J.; Baldwin, Don A.; Mason, Christopher E.
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

POLR2A的种系突变: 一种以转录失调为特征的异质性、多系统发育障碍

HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2021-01-0118
OAAI
Hansen, Adam W.; Arora, Payal; Khayat, Michael M.; Smith, Leah J.; Lewis, Andrea M.; Rossetti, Linda Z.; Jayaseelan, Joy; Cristian, Ingrid; Haynes, Devon; DiTroia, Stephanie; Meeks, Naomi; Delgado, Mauricio R.; Rosenfeld, Jill A.; Pais, Lynn; White, Susan M.; Meng, Qingchang; Pehlivan, Davut; Liu, Pengfei; Gingras, Marie-Claude; Wangler, Michael F.; Muzny, Donna M.; Lupski, James R.; Kaplan, Craig D.; Gibbs, Richard A.
Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
IF7.2
2020-12-2964
OA
Li, He; Sisoudiya, Saumya D.; Martin-Giacalone, Bailey A.; Khayat, Michael M.; Dugan-Perez, Shannon; Marquez-Do, Deborah A.; Scheurer, Michael E.; Muzny, Donna; Boerwinkle, Eric; Gibbs, Richard A.; Chi, Yueh-Yun; Barkauskas, Donald A.; Lo, Tammy; Hall, David; Stewart, Douglas R.; Schiffman, Joshua D.; Skapek, Stephen X.; Hawkins, Douglas S.; Plon, Sharon E.; Sabo, Aniko; Lupo, Philip J.
Phenotypic expansion inKIF1A-related dominant disorders: A description of novel variants and review of published cases
HUMAN MUTATION
IF3.7
2020-10-0811
OAAI
Montenegro-Garreaud, Ximena; Hansen, Adam W.; Khayat, Michael M.; Chander, Varuna; Grochowski, Christopher M.; Jiang, Yunyun; Li, He; Mitani, Tadahiro; Kessler, Elena; Jayaseelan, Joy; Shen, Hua; Gezdirici, Alper; Pehlivan, Davut; Meng, Qingchang; Rosenfeld, Jill A.; Jhangiani, Shalini N.; Madan-Khetarpal, Suneeta; Scott, Daryl A.; Abarca-Barriga, Hugo; Trubnykova, Milana; Gingras, Marie-Claude; Muzny, Donna M.; Posey, Jennifer E.; Liu, Pengfei; Lupski, James R.; Gibbs, Richard A.
A Genocentric Approach to Discovery of Mendelian Disorders
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2019-11-0123
OAAI
Hansen, Adam W.; Murugan, Mullai; Li, He; Khayat, Michael M.; Wang, Liwen; Rosenfeld, Jill; Andrews, B. Kim; Jhangiani, Shalini N.; Akdemir, Zeynep H. Coban; Sedlazeck, Fritz J.; Ashley-Koch, Allison E.; Liu, Pengfei; Muzny, Donna M.; 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.
Phenotypic expansion in DDX3X - a common cause of intellectual disability in females
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2018-09-1569
OAAI
Wang, Xia; Posey, Jennifer E.; Rosenfeld, Jill A.; Bacino, Carlos A.; Scaglia, Fernando; Immken, LaDonna; Harris, Jill M.; Hickey, Scott E.; Mosher, Theresa M.; Slavotinek, Anne; Zhang, Jing; Beuten, Joke; Leduc, Magalie S.; He, Weimin; Vetrini, Francesco; Walkiewicz, Magdalena A.; Bi, Weimin; Xiao, Rui; Liu, Pengfei; Shao, Yunru; Gezdirici, Alper; Gulec, Elif Y.; Jiang, Yunyun; Darilek, Sandra A.; Hansen, Adam W.; Khayat, Michael M.; Pehlivan, Davut; Piard, Juliette; Muzny, Donna M.; Hanchard, Neil; Belmont, John W.; Van Maldergem, Lionel; Gibbs, Richard A.; Eldomery, Mohammad K.; Akdemir, Zeynep C.; Adesina, Adekunle M.; Chen, Shan; Lee, Yi-Chien; Lee, Brendan; Lupski, James R.; Eng, Christine M.; Xia, Fan; Yang, Yaping; Graham, Brett H.; Moretti, Paolo
A Universal Next-Generation Sequencing Protocol To Generate Noninfectious Barcoded cDNA Libraries from High-Containment RNA Viruses
MSYSTEMS
IF4.6
2016-06-2829
OAAI
Moser, Lindsey A.; Ramirez-Carvajal, Lisbeth; Puri, Vinita; Pauszek, Steven J.; Matthews, Krystal; Dilley, Kari A.; Mullan, Clancy; McGraw, Jennifer; Khayat, Michael; Beeri, Karen; Yee, Anthony; Dugan, Vivien; Heise, Mark T.; Frieman, Matthew B.; Rodriguez, Luis L.; Bernard, Kristen A.; Wentworth, David E.; Stockwell, Timothy B.; Shabman, Reed S.

研究方向

暂未获取到该数据
R
Richard A. Gibbs
H 指数:190论文数:1,342被引数:28.1万
J
Jennifer E. Posey
H 指数:51论文数:345被引数:9,586
A
Aniko Sabo
H 指数:38论文数:95被引数:5.8万
S
Shalini N. Jhangiani
H 指数:73论文数:261被引数:2.3万
Q
Qingchang Meng
H 指数:20论文数:72被引数:2,442
A
Adam Hansen
H 指数:9论文数:21被引数:380
J
James R. Lupski
H 指数:144论文数:1,090被引数:8.7万
F
Fritz J. Sedlazeck
H 指数:67论文数:391被引数:2.9万
J
Jill A. Rosenfeld
H 指数:93论文数:621被引数:3.1万
李何 封面图
李何
H 指数:20论文数:94被引数:1,582