Parker, Victoria E. R.; Keppler-Noreuil, Kim M.; Faivre, Laurence; Luu, Maxime; Oden, Neal L.; De Silva, Leena; Sapp, Julie C.; Andrews, Katrina; Bardou, Marc; Chen, Kong Y.; Darling, Thomas N.; Gautier, Elodie; Goldspiel, Barry R.; Hadj-Rabia, Smail; Harris, Julie; Kounidas, Georgios; Kumar, Parag; Lindhurst, Marjorie J.; Loffroy, Romaric; Martin, Ludovic; Phan, Alice; Rother, Kristina I.; Widemann, Brigitte C.; Wolters, Pamela L.; Coubes, Christine; Pinson, Lucile; Willems, Marjolaine; Vincent-Delorme, Catherine; Vabres, Pierre; Semple, Robert K.; Biesecker, Leslie G.

NAA10 polyadenylation signal variants cause syndromic microphthalmia

JOURNAL OF MEDICAL GENETICS

IF3.7

2019-03-0623

OAAI

Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-03-0159

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.

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2018-12-0119

OAAI

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy (vol 128, pg 1496, 2018)

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2018-11-0138

Al-Olabi, Lara; Polubothu, Satyamaanasa; Dowsett, Katherine; Andrews, Katrina A.; Stadnik, Paulina; Joseph, Agnel P.; Knox, Rachel; Pittman, Alan; Clark, Graeme; Baird, William; Bulstrode, Neil; Glover, Mary; Gordon, Kristiana; Hargrave, Darren; Huson, Susan M.; Jacques, Thomas S.; James, Gregory; Kondolf, Hannah; Kangesu, Loshan; Keppler-Noreuil, Kim M.; Khan, Amjad; Lindhurst, Marjorie J.; Lipson, Mark; Mansour, Sahar; O'Hara, Justine; Mahon, Caroline; Mosica, Anda; Moss, Celia; Murthy, Aditi; Ong, Juling; Parker, Victoria E.; Riviere, Jean-Baptiste; Sapp, Julie C.; Sebire, Neil J.; Shah, Rahul; Sivakumar, Branavan; Thomas, Anna; Virasami, Alex; Waelchli, Regula; Zeng, Zhiqiang; Biesecker, Leslie G.; Barnacle, Alex; Topf, Maya; Semple, Robert K.; Patton, E. Elizabeth; Kinsler, Veronica A.

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

与双等位基因LZTR1变异相关的常染色体隐性Noonan综合征

GENETICS IN MEDICINE

IF6.2

2018-10-01145

OAAI

Johnston, Jennifer J.; van der Smagt, Jasper J.; Rosenfeld, Jill A.; Pagnamenta, Alistair T.; Alswaid, Abdulrahman; Baker, Eva H.; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Vu Chi Dung; Emrick, Lisa; Everman, David B.; van Gassen, Koen L.; Gulsuner, Suleyman; Harr, Margaret H.; Jain, Mahim; Kuechler, Alma; Leppig, Kathleen A.; McDonald-McGinn, Donna M.; Ngoc Thi Bich Can; Peleg, Amir; Roeder, Elizabeth R.; Rogers, R. Curtis; Sagi-Dain, Lena; Sapp, Julie C.; Schaffer, Alejandro A.; Schanze, Denny; Stewart, Helen; Taylor, Jenny C.; Verbeek, Nienke E.; Walkiewicz, Magdalena A.; Zackai, Elaine H.; Zweier, Christiane; Zenker, Martin; Lee, Brendan; Biesecker, Leslie G.

Julie C. Sapp

个人简介

教育背景

工作经历

荣誉奖项

研究方向