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S

Santhosh Girirajan

pennsylvania state university
H指数:46
被引数:1.3万

个人简介

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教育背景

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工作经历

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荣誉奖项

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Genetic modifiers and ascertainment drive variable expressivity of complex disorders

遗传修饰因子和病例发现方式驱动复杂疾病的表型可变性

Cell
IF42.5
2025-10-070
OAAI
Matthew Jensen; Corrine Smolen; Anastasia Tyryshkina; Lucilla Pizzo; Jiawan Sun; Serena Noss; Deepro Banerjee; Matthew Oetjens; Hermela Shimelis; Cora M. Taylor; Vijay Kumar Pounraja; Hyebin Song; Laura Rohan; Emily Huber; Laila El Khattabi; Ingrid van de Laar; Rafik Tadros; Connie R. Bezzina; Marjon van Slegtenhorst; Janneke Kammeraad; Paolo Prontera; Jean-Hubert Caberg; Harry Fraser; Siddharth Banka; Anke Van Dijck; Charles Schwartz; Els Voorhoeve; Patrick Callier; Anne-Laure Mosca-Boidron; Nathalie Marle; Mathilde Lefebvre; Kate Pope; Penny Snell; Amber Boys; Paul J. Lockhart; Myla Ashfaq; Elizabeth McCready; Margaret Nowacyzk; Lucia Castiglia; Ornella Galesi; Emanuela Avola; Teresa Mattina; Marco Fichera; Maria Grazia Bruccheri; Giuseppa Maria Luana Mandarà; Francesca Mari; Flavia Privitera; Ilaria Longo; Aurora Curró; Alessandra Renieri; Boris Keren; Perrine Charles; Silvestre Cuinat; Mathilde Nizon; Olivier Pichon; Claire Bénéteau; Radka Stoeva; Dominique Martin-Coignard; Sophia Blesson; Cedric Le Caignec; Sandra Mercier; Marie Vincent; Christa L. Martin; Katrin Mannik; Alexandre Reymond; Laurence Faivre; Erik Sistermans; R. Frank Kooy; David J. Amor; Corrado Romano; Joris Andrieux; Santhosh Girirajan
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

分类交配和亲本遗传相关性有助于可变表达变体的致病性

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-12-014
OAAI
Smolen, Corrine; Jensen, Matthew; Dyer, Lisa; Pizzo, Lucilla; Tyryshkina, Anastasia; Banerjee, Deepro; Rohan, Laura; Huber, Emily; Khattabi, Laila El; Prontera, Paolo; Caberg, Jean-Hubert; Dijck, Anke Van; Schwartz, Charles; Faivre, Laurence; Callier, Patrick; Mosca-Boidron, Anne-Laure; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Lockhart, Paul J.; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Mandara, Giuseppa Maria Luana; Bruccheri, Maria Grazia; Pichon, Olivier; Caignec, Cedric Le; Stoeva, Radka; Cuinat, Silvestre; Mercier, Sandra; Beneteau, Claire; Blesson, Sophie; Nordsletten, Ashley; Martin-Coignard, Dominique; Sistermans, Erik; Kooy, R. Frank; Amor, David J.; Romano, Corrado; Isidor, Bertrand; Juusola, Jane; Girirajan, Santhosh
Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-01-016
OAAI
Lansdon, Lisa A.; Dickinson, Amanda; Arlis, Sydney; Liu, Huan; Hlas, Arman; Hahn, Alyssa; Bonde, Greg; Long, Abby; Standley, Jennifer; Tyryshkina, Anastasia; Wehby, George; Lee, Nanette R.; Daack-Hirsch, Sandra; Mohlke, Karen; Girirajan, Santhosh; Darbro, Benjamin W.; Cornell, Robert A.; Houston, Douglas W.; Murray, Jeffrey C.; Manak, J. Robert
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-08-019
OAAI
Buttermore, Elizabeth; Chamberlain, Stormy; Cody, Jannine; Costain, Gregory; Dang, Louis; DeWoody, Andrew; DeWoody, Yssa; Dies, Kira; Eichler, Evan; Girirajan, Santhosh; Gramm, Marie; Halladay, Alycia; Lal, Dennis; Lalli, Matthew; Levy, Tess; Logsdon, Glennis; Lowenstein, Daniel; Mefford, Heather; Mulle, Jennifer; Muotri, Alysson; Murphy, Melissa; Palma, Eduardo Perez; Pinter, Stefan; Pollak, Rebecca; Purcell, Ryan; Samaco, Rodney; Shah, Bina; Singh, Karun; So, Joyce; Sundberg, Maria; Veeraragavan, Surabi; Vogel-Farley, Vanessa; Wynshaw-Boris, Anthony

研究方向

暂未获取到该数据
E
Evan E. Eichler
H 指数:191论文数:878被引数:20.8万
M
Matthew Jensen
H 指数:20论文数:74被引数:1,293
J
Jill A. Rosenfeld
H 指数:93论文数:621被引数:3.0万
D
Deepro Banerjee
H 指数:6论文数:27被引数:214
C
Carl Baker
H 指数:56论文数:132被引数:2.3万
L
Lucilla Pizzo
H 指数:10论文数:57被引数:711
L
Lisa G. Shaffer
H 指数:98论文数:431被引数:3.0万
B
Blake C. Ballif
H 指数:51论文数:152被引数:1.1万
S
Sarah H. Elsea
H 指数:48论文数:579被引数:7,779
M
Maitreya Das
H 指数:5论文数:22被引数:90