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职业迁徙
个人简介
His research focuses on using genomics and bioinformatics to understand the etiology of human disease, especially autism spectrum disorder (ASD).
Using SNP genotyping arrays on samples in the Simons Simplex Collection he clarified the important role of de novo copy number variation (CNVs) in ASD including the discovery of duplications at 7q11.23, of note since deletions at this same locus cause Williams-Beuren syndrome which is associated with increased sociability. In the same sample cohort he used exome sequencing to show that de novo loss of function (LoF) mutations are associated with ASD and to establish a statistical framework for identifying the specific genes involved in ASD pathology based on these de novo events. This statistical method was used to identify the gene SCN2A and has since identified multiple ASD genes with high confidence.
Most recently recently he has worked with a group of collaborators to investigate what these ASD genes can tell us about ASD neuropathology. By integrating spatiotemporal gene expression data from the human brain (BrainSpan) and the results of exome sequencing they built and interrogated spatiotemporal co-expression networks to identify points of convergence in gene expression. This approach has highlighted the role of layer 5/6 glutamatergic neurons in the frontal cortex in mid-fetal development in the causation of ASD.
Using SNP genotyping arrays on samples in the Simons Simplex Collection he clarified the important role of de novo copy number variation (CNVs) in ASD including the discovery of duplications at 7q11.23, of note since deletions at this same locus cause Williams-Beuren syndrome which is associated with increased sociability. In the same sample cohort he used exome sequencing to show that de novo loss of function (LoF) mutations are associated with ASD and to establish a statistical framework for identifying the specific genes involved in ASD pathology based on these de novo events. This statistical method was used to identify the gene SCN2A and has since identified multiple ASD genes with high confidence.
Most recently recently he has worked with a group of collaborators to investigate what these ASD genes can tell us about ASD neuropathology. By integrating spatiotemporal gene expression data from the human brain (BrainSpan) and the results of exome sequencing they built and interrogated spatiotemporal co-expression networks to identify points of convergence in gene expression. This approach has highlighted the role of layer 5/6 glutamatergic neurons in the frontal cortex in mid-fetal development in the causation of ASD.
研究兴趣
论文共 217 篇作者统计合作学者相似作者
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Lukasz Mateusz Szewczyk,Marcin Andrzej Lipiec,Ewa Liszewska,Ksenia Meyza,Joanna Urban-Ciecko,Ludwika Kondrakiewicz,Anna Goncerzewicz,Kamil Rafalko, Tomasz Grzegorz Krawczyk,Karolina Bogaj,Ilia Davidovich Vainchtein, Hiromi Nakao-Inoue,Alicja Puscian,Ewelina Knapska,Stephan J. Sanders,Tomasz Jan Nowakowski,Anna Victoria Molofsky,Marta Barbara Wisniewska
MOLECULAR PSYCHIATRYno. 1 (2024): 57-73
Biological psychiatry global open sciencepp.100321-100321, (2024)
Yujin Kim, Minwoo Jeong,In Gyeong Koh, Chanhee Kim,Hyeji Lee, Jae Hyun Kim,Ronald Yurko,Il Bin Kim,Jeongbin Park,Donna M. Werling,Stephan J. Sanders,Joon-Yong An
BRIEFINGS IN BIOINFORMATICSno. 4 (2024)
David Shin,Chang N. Kim,Jayden Ross,Kelsey M. Hennick,Sih-Rong Wu,Neha Paranjape, Rachel Leonard, Jerrick C. Wang,Matthew G. Keefe,Bryan J. Pavlovic,Kevin C. Donohue,Clara Moreau,Emilie M. Wigdor, H. Hanh Larson,Denise E. Allen,Cathryn R. Cadwell,Aparna Bhaduri,Galina Popova,Carrie E. Bearden,Alex A. Pollen,Sebastien Jacquemont,Stephan J. Sanders,David Haussler,Arun P. Wiita,Nicholas A. Frost,Vikaas S. Sohal,Tomasz J. Nowakowski
Anna Gui,Anja Hollowell,Emilie M. Wigdor, Morgan J. Morgan,Laurie J. Hannigan,Elizabeth C. Corfield,Veronika Odintsova,Jouke-Jan Hottenga,Andrew Wong,René Pool,Harriet Cullen,Siân Wilson,Varun Warrier,Espen M. Eilertsen,Ole A. Andreassen,Christel M. Middeldorp,Beate St Pourcain,Meike Bartels,Dorret I. Boomsma,Catharina A. Hartman,Elise B. Robinson,Tomoki Arichi,David Edwards,Mark H. Johnson,Frank Dudbridge,Stephan J. Sanders,Alexandra Havdahl,Angelica Ronald
crossref(2024)
Bioinformaticsno. 1 (2024)
Yuyang Chen,Ruebena Dawes,Hyung Chul Kim,Alicia Ljungdahl,Sarah L Stenton,Susan Walker,Jenny Lord,Gabrielle Lemire, Alexandra C Martin-Geary,Vijay S Ganesh, Jialan Ma,Jamie M Ellingford,Erwan Delage,Elston N D'Souza,Shan Dong,David R Adams, Kirsten Allan,Madhura Bakshi, Erin E Baldwin,Seth I Berger,Jonathan A Bernstein, Ishita Bhatnagar, Ed Blair,Natasha J Brown,Lindsay C Burrage,Kimberly Chapman,David J Coman,Alison G Compton, Chloe A Cunningham,Precilla D'Souza, Petr Danecek,Emmanuèle C Délot, Kerith-Rae Dias,Ellen R Elias,Frances Elmslie,Care-Anne Evans,Lisa Ewans,Kimberly Ezell,Jamie L Fraser,Lyndon Gallacher,Casie A Genetti,Anne Goriely,Christina L Grant,Tobias Haack, Jenny E Higgs,Anjali G Hinch,Matthew E Hurles,Alma Kuechler, Katherine L Lachlan,Seema R Lalani, François Lecoquierre,Elsa Leitão,Anna Le Fevre,Richard J Leventer,Jan E Liebelt,Sarah Lindsay,Paul J Lockhart,Alan S Ma,Ellen F Macnamara, Sahar Mansour,Taylor M Maurer,Hector R Mendez, Kay Metcalfe,Stephen B Montgomery, Mariya Moosajee,Marie-Cécile Nassogne,Serena Neumann, Michael O'Donoghue,Melanie O'Leary,Elizabeth E Palmer, Nikhil Pattani,John Phillips,Georgia Pitsava, Ryan Pysar,Heidi L Rehm,Chloe M Reuter,Nicole Revencu,Angelika Riess,Rocio Rius,Lance Rodan,Tony Roscioli,Jill A Rosenfeld,Rani Sachdev, Charles J Shaw-Smith,Cas Simons,Sanjay M Sisodiya,Penny Snell, Laura St Clair,Zornitza Stark, Helen S Stewart,Tiong Yang Tan,Natalie B Tan,Suzanna E L Temple,David R Thorburn,Cynthia J Tifft,Eloise Uebergang,Grace E VanNoy, Pradeep Vasudevan,Eric Vilain,David H Viskochil,Laura Wedd,Matthew T Wheeler,Susan M White,Monica Wojcik,Lynne A Wolfe,Zoe Wolfenson,Caroline F Wright,Changrui Xiao,David Zocche,John L Rubenstein,Eirene Markenscoff-Papadimitriou,Sebastian M Fica,Diana Baralle,Christel Depienne,Daniel G MacArthur, M,Stephan J Sanders,Anne O'Donnell-Luria,Nicola Whiffin
Natureno. 8026 (2024): 832-840
Michael Kosicki,Dianne Laboy Cintrón,Nicholas F Page,Ilias Georgakopoulos-Soares,Jennifer A Akiyama,Ingrid Plajzer-Frick,Catherine S Novak,Momoe Kato,Riana D Hunter,Kianna von Maydell, Sarah Barton, Patrick Godfrey, Erik Beckman,Stephan J Sanders,Len A Pennacchio,Nadav Ahituv
biorxiv(2024)
Alice S. Tang,Katherine P. Rankin,Gabriel Cerono,Silvia Miramontes,Hunter Mills,Jacquelyn Roger,Billy Zeng,Charlotte Nelson,Karthik Soman,Sarah Woldemariam,Yaqiao Li,Albert Lee,Riley Bove,Maria Glymour,Nima Aghaeepour,Tomiko T. Oskotsky,Zachary Miller,Isabel E. Allen,Stephan J. Sanders,Sergio Baranzini,Marina Sirota
Kyra Henderson,Jennifer Reihm,Kanishka Koshal,Jaeleene Wijangco,Narender Sara,Nicolette Miller, Marianne Doyle, Alicia Mallory, Judith Sheridan,Chu-Yueh Guo,Lauren Oommen,Katherine P. Rankin,Stephan Sanders,Anthony Feinstein,Christina Mangurian,Riley Bove
JMIR formative research (2024): e52809-e52809
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作者统计
#Papers: 219
#Citation: 28011
H-Index: 61
G-Index: 150
Sociability: 8
Diversity: 3
Activity: 91
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