Cheng, Hanyin; Gottlieb, Leah; Marchi, Elaine; Kleyner, Robert; Bhardwaj, Puja; Rope, Alan F.; Rosenheck, Sarah; Moutton, Sebastien; Philippe, Christophe; Eyaid, Wafaa; Alkuraya, Fowzan S.; Toribio, Janet; Mena, Rafael; Prada, Carlos E.; Stessman, Holly; Bernier, Raphael; Wermuth, Marieke; Kauffmann, Birgit; Blaumeiser, Bettina; Kooy, R. Frank; Baralle, Diana; Mancini, Grazia M. S.; Conway, Simon J.; Xia, Fan; Chen, Zhao; Meng, Linyan; Mihajlovic, Ljubisa; Marmorstein, Ronen; Lyon, Gholson J.

ATF3 drives synergy between protein disulfide isomerase (PDI) inhibitors and epigenetic cancer therapy

CANCER RESEARCH

IF16.6

2019-07-010

PRE

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

HUMAN MOLECULAR GENETICS

IF3.2

2019-05-0145

OAAI

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-03-0135

OAAI

Cogne, Benjamin; Ehresmann, Sophie; Beauregard-Lacroix, Eliane; Rousseau, Justine; Besnard, Thomas; Garcia, Thomas; Petrovski, Slave; Avni, Shiri; McWalter, Kirsty; Blackburn, Patrick R.; Sanders, Stephan J.; Uguen, Kevin; Harris, Jacqueline; Cohen, Julie S.; Blyth, Moira; Lehman, Anna; Berg, Jonathan; Li, Mindy H.; Kini, Usha; Joss, Shelagh; von der Lippe, Charlotte; Gordon, Christopher T.; Humberson, Jennifer B.; Robak, Laurie; Scott, Daryl A.; Sutton, Vernon R.; Skraban, Cara M.; Johnston, Jennifer J.; Poduri, Annapurna; Nordenskjold, Magnus; Shashi, Vandana; Gerkes, Erica H.; Bongers, Ernie M. H. F.; Gilissen, Christian; Zarate, Yuri A.; Kvarnung, Malin; Lally, Kevin P.; Kulch, Peggy A.; Daniels, Brina; Hernandez-Garcia, Andres; Stong, Nicholas; McGaughran, Julie; Retterer, Kyle; Tveten, Kristian; Sullivan, Jennifer; Geisheker, Madeleine R.; Stray-Pedersen, Asbjorg; Tarpinian, Jennifer M.; Klee, Eric W.; Sapp, Julie C.; Zyskind, Jacob; Holla, Oystein L.; Bedoukian, Emma; Filippini, Francesca; Guimier, Anne; Picard, Arnaud; Busk, Oyvind L.; Punetha, Jaya; Pfundt, Rolph; Lindstrand, Anna; Nordgren, Ann; Kalb, Fayth; Desai, Megha; Ebanks, Ashley Harmon; Jhangiani, Shalini N.; Dewan, Tammie; Akdemir, Zeynep H. Coban; Telegrafi, Aida; Zackai, Elaine H.; Begtrup, Amber; Song, Xiaofei; Toutain, Annick; Wentzensen, Ingrid M.; Odent, Sylvie; Bonneau, Dominique; Latypova, Xenia; Deb, Wallid; Redon, Sylvia; Bilan, Frederic; Legendre, Marine; Troyer, Caitlin; Whitlock, Kerri; Caluseriu, Oana; Murphree, Marine, I; Pichurin, Pavel N.; Agre, Katherine; Gavrilova, Ralitza; Rinne, Tuula; Park, Meredith; Shain, Catherine; Heinzen, Erin L.; Xiao, Rui; Amiel, Jeanne; Lyonnet, Stanislas; Isidor, Bertrand; Biesecker, Leslie G.; Lowenstein, Dan; Posey, Jennifer E.; Denomme-Pichon, Anne-Sophie; Ferec, Claude; Yang, Xiang-Jiao; Rosenfeld, Jill A.; Gilbert-Dussardier, Brigitte; Audebert-Bellanger, Severine; Redon, Richard; Stessman, Holly A. F.; Nellaker, Christoffer; Yang, Yaping; Lupski, James R.; Goldstein, David B.; Eichler, Evan E.; Bolduc, Francois; Bezieau, Stephane; Kury, Sebastien; Campeau, Philippe M.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

BIOLOGICAL PSYCHIATRY

IF9

2019-02-01103

OAAI

Van Dijck, Anke; Vulto-van Silfhout, Anneke T.; Cappuyns, Elisa; van der Werf, Ilse M.; Mancini, Grazia M.; Tzschach, Andreas; Bernier, Raphael; Gozes, Illana; Eichler, Evan E.; Romano, Corrado; Lindstrand, Anna; Nordgren, Ann; Kvarnung, Malin; Kleefstra, Tjitske; de Vries, Bert B. A.; Kury, Sebastien; Rosenfeld, Jill A.; Meuwissen, Marije E.; Vandeweyer, Geert; Kooy, R. Frank; Bakshi, Madhura; Wilson, Meredith; Berman, Yemina; Dickson, Rebecca; Fransen, Erik; Helsmoortel, Celine; Van den Ende, Jenneke; Van der Aa, Nathalie; van de Wijdeven, Marina J.; Rosenblum, Jessica; Monteiro, Fabiola; Kok, Fernando; Quercia, Nada; Bowdin, Sarah; Dyment, David; Chitayat, David; Alkhunaizi, Ebba; Boonen, Susanne E.; Keren, Boris; Jacquette, Aurelia; Faivre, Laurence; Bezieau, Stephane; Isidor, Bertrand; Riess, Angelika; Moog, Ute; Lynch, Sally Ann; McVeigh, Terri; Elpeleg, Orly; Smeland, Marie Falkenberg; Fannemel, Madeleine; van Haeringen, Arie; Maas, Saskia M.; Veenstra-Knol, H. E.; Schouten, Meyke; Willemsen, Marjolein H.; Marcelis, Carlo L.; Ockeloen, Charlotte; van der Burgt, Ineke; Feenstra, Ilse; van der Smagt, Jasper; Jezela-Stanek, Aleksandra; Krajewska-Walasek, Malgorzata; Gonzalez-Lamuno, Domingo; Anderlid, Britt-Marie; Malmgren, Helena; Nordenskjold, Magnus; Clement, Emma; Hurst, Jane; Metcalfe, Kay; Mansour, Sahar; Lachlan, Katherine; Clayton-Smith, Jill; Hendon, Laura G.; Abdulrahman, Omar A.; Morrow, Eric; McMillan, Clare; Gerdts, Jennifer; Peeden, Joseph; Vergano, Samantha A. Schrier; Valentino, Caitlin; Chung, Wendy K.; Ozmore, Jillian R.; Bedrosian-Sermone, Sandra; Dennis, Anna; Treat, Kayla; Hughes, Susan Starling; Safina, Nicole; Le Pichon, Jean-Baptiste; McGuire, Marianne; Infante, Elena; Madan-Khetarpal, Suneeta; Desai, Sonal; Benke, Paul; Krokosky, Alyson; Cristian, Ingrid; Baker, Laura; Gripp, Karen; Stessman, Holly A.; Eichenberger, Jacob; Jayakar, Parul; Pizzino, Amy; Manning, Melanie Ann; Slattery, Leah

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

从头突变和拷贝数变异发病率所涉及的神经发育疾病基因

NATURE GENETICS

IF31.8

2018-12-17224

OAAI

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2018-05-0165

OAAI

Cheng, Hanyin; Dharmadhikari, Avinash V.; Varland, Sylvia; Ma, Ning; Domingo, Deepti; Kleyner, Robert; Rope, Alan F.; Yoon, Margaret; Stray-Pedersen, Asbjorg; Posey, Jennifer E.; Crews, Sarah R.; Eldomery, Mohammad K.; Akdemir, Zeynep Coban; Lewis, Andrea M.; Sutton, Vernon R.; Rosenfeld, Jill A.; Conboy, Erin; Agre, Katherine; Xia, Fan; Walkiewicz, Magdalena; Longoni, Mauro; High, Frances A.; van Slegtenhorst, Marjon A.; Mancini, Grazia M. S.; Finnila, Candice R.; van Haeringen, Arie; den Hollander, Nicolette; Ruivenkamp, Claudia; Naidu, Sakkubai; Mahida, Sonal; Palmer, Elizabeth E.; Murray, Lucinda; Lim, Derek; Jayakar, Parul; Parker, Michael J.; Giusto, Stefania; Stracuzzi, Emanuela; Romano, Corrado; Beighley, Jennifer S.; Bernier, Raphael A.; Kury, Sebastien; Nizon, Mathilde; Corbett, Mark A.; Shaw, Marie; Gardner, Alison; Barnett, Christopher; Armstrong, Ruth; Kassahn, Karin S.; Van Dijck, Anke; Vandeweyer, Geert; Kleefstra, Tjitske; Schieving, Jolanda; Jongmans, Marjolijn J.; de Vries, Bert B. A.; Pfundt, Rolph; Kerr, Bronwyn; Rojas, Samantha K.; Boycott, Kym M.; Person, Richard; Willaert, Rebecca; Eichler, Evan E.; Kooy, R. Frank; Yang, Yaping; Wu, Joseph C.; Lupski, James R.; Arnesen, Thomas; Cooper, Gregory M.; Chung, Wendy K.; Gecz, Jozef; Stessman, Holly A. F.; Meng, Linyan; Lyon, Gholson J.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2017-11-01139

OAAI

Kury, Sebastien; van Woerden, Geeske M.; Besnard, Thomas; Onori, Martina Proietti; Latypova, Xenia; Towne, Meghan C.; Cho, Megan T.; Prescott, Trine E.; Ploeg, Melissa A.; Sanders, Stephan; Stessman, Holly A. F.; Pujol, Aurora; Ben Distel; Robak, Laurie A.; Bernstein, Jonathan A.; Denomme-Pichon, Anne-Sophie; Lesca, Gaetan; Sellars, Elizabeth A.; Berg, Jonathan; Carre, Wilfrid; Busk, Oyvind Lovold; van Bon, Bregje W. M.; Waugh, Jeff L.; Deardorff, Matthew; Hoganson, George E.; Bosanko, Katherine B.; Johnson, Diana S.; Dabir, Tabib; Holla, Oystein Lunde; Sarkar, Ajoy; Tveten, Kristian; de Bellescize, Julitta; Braathen, Geir J.; Terhal, Paulien A.; Grange, Dorothy K.; van Haeringen, Arie; Lam, Christina; Mirzaa, Ghayda; Burton, Jennifer; Bhoj, Elizabeth J.; Douglas, Jessica; Santani, Avni B.; Nesbitt, Addie I.; Helbig, Katherine L.; Andrews, Marisa V.; Begtrup, Amber; Tang, Sha; van Gassen, Koen L. I.; Juusola, Jane; Foss, Kimberly; Enns, Gregory M.; Moog, Ute; Hinderhofer, Katrin; Paramasivam, Nagarajan; Lincoln, Sharyn; Kusako, Brandon H.; Lindenbaum, Pierre; Charpentier, Eric; Nowak, Catherine B.; Cherot, Elouan; Simonet, Thomas; Ruivenkamp, Claudia A. L.; Hahn, Sihoun; Brownstein, Catherine A.; Xia, Fan; Schmitt, Sebastien; Deb, Wallid; Bonneau, Dominique; Nizon, Mathilde; Quinquis, Delphine; Chelly, Jamel; Rudolf, Gabrielle; Sanlaville, Damien; Parent, Philippe; Gilbert-Dussardier, Brigitte; Toutain, Annick; Sutton, Vernon R.; Thies, Jenny; Peart-Vissers, Lisenka E. L. M.; Boisseau, Pierre; Vincent, Marie; Grabrucker, Andreas M.; Dubourg, Christele; Tan, Wen-Hann; Verbeek, Nienke E.; Granzow, Martin; Santen, Gijs W. E.; Shendure, Jay; Isidor, Bertrand; Pasquier, Laurent; Redon, Richard; Yang, Yaping; State, Matthew W.; Kleefstra, Tjitske; Cogne, Benjamin; Petrovski, Slave; Retterer, Kyle; Eichler, Evan E.; Rosenfeld, Jill A.; Agrawal, Pankaj B.; Bezieau, Stephane; Odent, Sylvie; Elgersma, Ype; Mercier, Sandra

Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism

探索自闭症遗传病因的神经社会指标的异质性

JOURNAL OF NEURODEVELOPMENTAL DISORDERS

IF4

2017-05-2617

OAAI

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (vol 100, pg 352, 2017)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2017-04-0113

OAAI

Kuery, Sebastien; Besnard, Thomas; Ebstein, Frederic; Khan, Tahir N.; Gambin, Tomasz; Douglas, Jessica; Bacino, Carlos A.; Craigen, William J.; Sanders, Stephan J.; Lehmann, Andrea; Latypova, Xenia; Khan, Kamal; Pacault, Mathilde; Sacharow, Stephanie; Glaser, Kimberly; Bieth, Eric; Perrin-Sabourin, Laurence; Jacquemont, Marie-Line; Cho, Megan T.; Roeder, Elizabeth; Denomme-Pichon, Anne-Sophie; Monaghan, Kristin G.; Yuan, Bo; Xia, Fan; Simon, Sylvain; Bonneau, Dominique; Parent, Philippe; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Toutain, Annick; Pasquier, Laurent; Barbouth, Deborah; Shaw, Chad A.; Patel, Ankita; Smith, Janice L.; Bi, Weimin; Schmitt, Sebastien; Deb, Wallid; Nizon, Mathilde; Mercier, Sandra; Vincent, Marie; Rooryck, Caroline; Malan, Valerie; Briceno, Ignacio; Gomez, Alberto; Nugent, Kimberly M.; Gibson, James B.; Cogne, Benjamin; Lupski, James R.; Stessman, Holly A. F.; Eichler, Evan E.; Retterer, Kyle; Yang, Yaping; Redon, Richard; Katsanis, Nicholas; Rosenfeld, Jill A.; Kloetzel, Peter-Michael; Golzio, Christelle; Bezieau, Stephane; Stankiewicz, Pawe; Isidor, Bertrand

The evolution and population diversity of human-specific segmental duplications

人类特定片段重复的进化和种群多样性

NATURE ECOLOGY & EVOLUTION

IF14.5

2017-02-17114

OAAI

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

NATURE GENETICS

IF31.8

2017-02-13432

OAAI

Stessman, Holly A. F.; Xiong, Bo; Coe, Bradley P.; Wang, Tianyun; Hoekzema, Kendra; Fenckova, Michaela; Kvarnung, Malin; Gerdts, Jennifer; Trinh, Sandy; Cosemans, Nele; Vives, Laura; Lin, Janice; Turner, Tychele N.; Santen, Gijs; Ruivenkamp, Claudia; Kriek, Marjolein; van Haeringen, Arie; Aten, Emmelien; Friend, Kathryn; Liebelt, Jan; Barnett, Christopher; Haan, Eric; Shaw, Marie; Gecz, Jozef; Anderlid, Britt-Marie; Nordgren, Ann; Lindstrand, Anna; Schwartz, Charles; Kooy, R. Frank; Vandeweyer, Geert; Helsmoortel, Celine; Romano, Corrado; Alberti, Antonino; Vinci, Mirella; Avola, Emanuela; Giusto, Stefania; Courchesne, Eric; Pramparo, Tiziano; Pierce, Karen; Nalabolu, Srinivasa; Amaral, David G.; Scheffer, Ingrid E.; Delatycki, Martin B.; Lockhart, Paul J.; Hormozdiari, Fereydoun; Harich, Benjamin; Castells-Nobau, Anna; Xia, Kun; Peeters, Hilde; Nordenskjold, Magnus; Schenck, Annette; Bernier, Raphael A.; Eichler, Evan E.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2017-02-0193

OAAI

Kury, Sebastien; Besnard, Thomas; Ebstein, Frederic; Khan, Tahir N.; Gambin, Tomasz; Douglas, Jessica; Bacino, Carlos A.; Sanders, Stephan J.; Lehmann, Andrea; Latypova, Xenia; Khan, Kamal; Pacault, Mathilde; Sacharow, Stephanie; Glaser, Kimberly; Bieth, Eric; Perrin-Sabourin, Laurence; Jacquemont, Marie-Line; Cho, Megan T.; Roeder, Elizabeth; Denomme-Pichon, Anne-Sophie; Monaghan, Kristin G.; Yuan, Bo; Xia, Fan; Simon, Sylvain; Bonneau, Dominique; Parent, Philippe; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Toutain, Annick; Pasquier, Laurent; Barbouth, Deborah; Shaw, Chad A.; Pate, Ankita; Smith, Janice L.; Bi, Weimin; Schmitt, Sebastien; Deb, Wallid; Nizon, Mathilde; Mercier, Sandra; Vincent, Marie; Rooryck, Caroline; Malan, Valerie; Briceno, Ignacio; Gomez, Alberto; Nugent, Kimberly M.; Gibson, James B.; Cogne, Benjamin; Lupski, James R.; Stessman, Holly A. F.; Eichler, Evan E.; Retterer, Kyle; Yang, Yaping; Redon, Richard; Katsanis, Nicholas; Rosenfeld, Jill A.; Kloetze, Peter -Michael; Golzio, Christelle; Bezieau, Stephane; Stankiewicz, Pawel; Isidor, Bertrand

Holly A.F. Stessman

个人简介

教育背景

工作经历

荣誉奖项

研究方向