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M

Michael F. Wangler

baylor college of medicine
H指数:51
被引数:8,376

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荣誉奖项

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Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models

通过深度临床表型分析和果蝇模型解析SLC6A1基因的表型可变性

Human Genetics and Genomics Advances
IF3.6
2025-10-310
OAAI
Kristy L. Jay; Nikhita Gogate; Paige I. Hall; Kimberly M. Ezell; Jonathan C. Andrews; Sharayu V. Jangam; Hongling Pan; Kelvin Pham; Ryan German; Vanessa Gomez; Emily Jellinek-Russo; Eric Storch; Shinya Yamamoto; Oguz Kanca; Hugo J. Bellen; Herman Dierick; Joy D. Cogan; John A. Phillips; Rizwan Hamid; Thomas Cassini; Lynette Rives; Sumit Pruthi; Hua-Chang Chen; Jennifer E. Posey; Michael F. Wangler
De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome

De Novo and Inherited Variants in DDX39B Cause a Novel Neurodevelopmental Syndrome

BRAIN
IF11.7
2025-05-013
PRE
Booth, Kevin T. A.; Jangam, Sharayu, V; Chui, Martin M. C.; Treat, Kayla; Graziani, Lorenzo; Soldano, Alessia; Ruan, Yao; Hui, Jeffrey Wan-Hei; White, Kerry; Christensen, Celanie K.; Lynnes, Ty; Yamamoto, Shinya; Kanca, Oguz; Tsang, Mandy H. Y.; Lynch, Sally A.; Mullegama, Sureni, V; Baptista, Julia; Iancu, Daniela; Joss, Shelagh K.; Wong, Sandra Y. Y.; Mak, Christopher C. Y.; Kwong, Anna K. Y.; Bellen, Hugo J.; Conboy, Erin; Sanges, Remo; Leung, Anskar Yu-Hung; Wangler, Michael F.; Chung, Brian H. Y.; Vetrini, Francesco
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

RYBP基因中的新发变异与严重的神经发育障碍和先天性畸形相关。

GENETICS IN MEDICINE
IF6.2
2025-01-011
PRE
Weisz-Hubshman, Monika; Burrage, Lindsay C.; V. Jangam, Sharayu; Rosenfeld, Jill A.; von Hardenberg, Sandra; Bergmann, Anke; Richter, Manuela Friederike; Rydzanicz, Malgorzata; Ploski, Rafal; Stembalska, Agnieszka; Chung, Wendy K.; Hernan, Rebecca R.; Lim, Foong Y.; Brunet, Theresa; Syrbe, Steffen; Keren, Boris; Heide, Solveig; Murdock, David R.; Dai, Hongzheng; Xia, Fan; Ketkar, Shamika; Dawson, Brian; Narayanan, Vinodh; Graves, Hillary K.; Wangler, Michael F.; Bacino, Carlos; Lee, Brendan
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma
GENETICS IN MEDICINE
IF6.2
2024-07-010
PRE
Ma, Mengqi; Ganapathi, Mythily; Zheng, Yiming; Tan, Kai-Li; Kanca, Oguz; Bove, Kevin E.; Quintanilla, Norma; Sag, Sebnem O.; Temel, Sehime G.; LeDuc, Charles A.; McPartland, Amanda J.; Pereira, Elaine M.; Shen, Yufeng; Hagen, Jacob; Thomas, Christie P.; Galvan, Nhu Thao Nguyen; Pan, Xueyang; Lu, Shenzhao; Rosenfeld, Jill A.; Calame, Daniel G.; Wangler, Michael F.; Lupski, James R.; Pehlivan, Davut; Hertel, Paula M.; Chung, Wendy K.; Bellen, Hugo J.
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-11-012
OAAI
Nil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J.
De novo variants in FRMDS are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-10-0113
OAAI
Lu, Shenzhao; Ma, Mengqi; Mao, Xiao; Bacino, Carlos A.; Jankovic, Joseph; Sutton, V. Reid; Bartley, James A.; Wang, Xueying; Rosenfeld, Jill A.; Beleza-Meireles, Ana; Chauhan, Jaynee; Pan, Xueyang; Li, Megan; Liu, Pengfei; Prescott, Katrina; Amin, Sam; Davies, George; Wangler, Michael F.; Dai, Yuwei; Bellen, Hugo J.
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
CELL REPORTS
IF6.9
2022-03-0124
OAAI
Marcogliese, Paul C.; Deal, Samantha L.; Andrews, Jonathan; Harnish, J. Michael; Bhavana, V. Hemanjani; Graves, Hillary K.; Jangam, Sharayu; Luo, Xi; Liu, Ning; Bei, Danqing; Yu-Hsin Chao; Hull, Brooke; Pei-Tseng Lee; Pan, Hongling; Bhadane, Pradnya; Mei-Chu Huang; Longley, Colleen M.; Hsiao-Tuan Chao; Hyung-lok Chung; Haelterman, Nele A.; Kanca, Oguz; Manivannan, Sathiya N.; Rossetti, Linda Z.; German, Ryan J.; Gerard, Amanda; Schwaibold, Eva Maria Christina; Fehr, Sarah; Guerrini, Renzo; Vetro, Annalisa; England, Eleina; Murali, Chaya N.; Barakat, Tahsin Stefan; van Dooren, Marieke F.; Wilke, Martina; van Slegtenhorst, Marjon; Lesca, Gaetan; Sabatier, Isabelle; Chatron, Nicolas; Brownstein, Catherine A.; Madden, Jill A.; Agrawal, Pankaj B.; Keren, Boris; Courtin, Thomas; Perrin, Laurence; Brugger, Melanie; Roser, Timo; Leiz, Steffen; Mau-Them, Frederic Tran; Delanne, Julian; Sukarova-Angelovska, Elena; Trajkova, Slavica; Rosenhahn, Erik; Strehlow, Vincent; Platzer, Konrad; Keller, Roberto; Pavinato, Lisa; Brusco, Alfredo; Rosenfeld, Jill A.; Marom, Ronit; Wangler, Michael F.; Yamamoto, Shinya

研究方向

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H
Hugo J. Bellen
H 指数:117论文数:612被引数:4.7万
S
Shinya Yamamoto
H 指数:51论文数:249被引数:9,191
J
Jill A. Rosenfeld
H 指数:93论文数:621被引数:3.0万
J
James R. Lupski
H 指数:144论文数:1,090被引数:8.7万
C
Carlos A. Bacino
H 指数:70论文数:334被引数:1.7万
O
Oguz Kanca
H 指数:24论文数:103被引数:2,477
J
Jennifer E. Posey
H 指数:51论文数:345被引数:9,483
D
Daryl A. Scott
H 指数:55论文数:261被引数:1.0万
L
Lindsay C. Burrage
H 指数:49论文数:233被引数:7,446
S
Sharayu Jangam
H 指数:7论文数:27被引数:320