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1
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. 미리보기

학술저널

issue
American journal of human genetics. 104(3)
Author
Cogné, Benjamin
Ehresmann, Sophie
Beauregard-Lacroix, Eliane
Rousseau, Justine
Besnard, Thomas
Garcia, Thomas
Petrovski, Slavé
Avni, Shiri
McWalter, Kirsty
Blackburn, Patrick R
Sanders, Stephan J
Uguen, Kévin
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
Nordenskjöld, Magnus
Shashi, Vandana
Gerkes, Erica H
Bongers, Ernie MHF
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, Øystein L
Bedoukian, Emma
Filippini, Francesca
Guimier, Anne
Picard, Arnaud
Busk, Øyvind L
Punetha, Jaya
Pfundt, Rolph
Lindstrand, Anna
Nordgren, Ann
Kalb, Fayth
Desai, Megha
Ebanks, Ashley Harmon
Jhangiani, Shalini N
Dewan, Tammie
Coban Akdemir, Zeynep H
Telegrafi, Aida
Zackai, Elaine H
Begtrup, Amber
Song, Xiaofei
Toutain, Annick
Wentzensen, Ingrid M
Odent, Sylvie
Bonneau, Dominique
Latypova, Xénia
Deb, Wallid
CAUSES Study
Redon, Sylvia
Bilan, Frédéric
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
Denommé-Pichon, Anne-Sophie
DB Label
Database : eScholarship
원문보기
Open Access (eScholarship) 
2
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay 미리보기

학술저널

issue
American Journal of Human Genetics. 100(2)
Author
Schoch, Kelly
Meng, Linyan
Szelinger, Szabolcs
Bearden, David R
Stray-Pedersen, Asbjorg
Busk, Oyvind L
Stong, Nicholas
Liston, Eriskay
Cohn, Ronald D
Scaglia, Fernando
Rosenfeld, Jill A
Tarpinian, Jennifer
Skraban, Cara M
Deardorff, Matthew A
Friedman, Jeremy N
Akdemir, Zeynep Coban
Walley, Nicole
Mikati, Mohamad A
Kranz, Peter G
Jasien, Joan
McConkie-Rosell, Allyn
McDonald, Marie
Wechsler, Stephanie Burns
Freemark, Michael
Kansagra, Sujay
Freedman, Sharon
Bali, Deeksha
Millan, Francisca
Bale, Sherri
Nelson, Stanley F
Lee, Hane
Dorrani, Naghmeh
Goldstein, David B
Xiao, Rui
Yang, Yaping
Posey, Jennifer E
Martinez-Agosto, Julian A
Lupski, James R
Wangler, Michael F
Shashi, Vandana
Grody, Wayne W
Strom, Samuel P
Vilain, Eric
Deignan, Joshua
Quintero-Rivera, Fabiola
Kantarci, Sibel
Mullegama, Sureni
Kang, Sung-Hae
Alejandro, Mercedes E
Bacino, Carlos A
Balasubramanyam, Ashok
Burrage, Lindsay C
Clark, Gary D
Craigen, William J
Dhar, Shweta U
Emrick, Lisa T
Graham, Brett H
Hanchard, Neil A
Jain, Mahim
Lalani, Seema R
Lee, Brendan H
Lewis, Richard A
Mashid, Azamian S
Moretti, Paolo M
Nicholas, Sarah K
Orange, Jordan S
Potocki, Lorraine
Scott, Daryl A
Tran, Alyssa A
Bellen, Hugo J
Yamamoto, Shinya
Eng, Christine M
Muzny, Donna M
Ward, Patricia A
Gropman, Andrea L
Jiang, Yong-hui
Pena, Loren DM
Spillmann, Rebecca C
Sullivan, Jennifer A
Walley, Nicole M
Beggs, Alan H
Briere, Lauren C
Cooper, Cynthia M
Donnell-Fink, Laurel A
Krieg, Elizabeth L
Krier, Joel B
Lincoln, Sharyn A
DB Label
Database : eScholarship
원문보기
Open Access (eScholarship) 
3
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants 미리보기

학술저널

issue
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(8):1338-1347
Author
Zhang, Li Xin
Lemire, Gabrielle
Gonzaga-Jauregui, Claudia
Molidperee, Sirinart
Galaz-Montoya, Carolina
Liu, David S.
Verloes, Alain
Shillington, Amelle G.
Izumi, Kosuke
Ritter, Alyssa L.
Keena, Beth
Zackai, ElaineAff7, Aff8
Li, Dong
Bhoj, Elizabeth
Tarpinian, Jennifer M.
Bedoukian, Emma
Kukolich, Mary K.
Innes, A. Micheil
Ediae, Grace U.
Sawyer, Sarah L.
Nair, Karippoth Mohandas
Soumya, Para Chottil
Subbaraman, Kinattinkara R.
Probst, Frank J.Aff3, Aff16
Bassetti, Jennifer A.Aff3, Aff16
Sutton, Reid V.Aff3, Aff16
Gibbs, Richard A.
Brown, Chester
Boone, Philip M.
Holm, Ingrid A.
Tartaglia, Marco
Ferrero, Giovanni Battista
Niceta, Marcello
Dentici, Maria Lisa
Radio, Francesca Clementina
Keren, Boris
Wells, Constance F.
Coubes, Christine
Laquerrière, Annie
Aziza, Jacqueline
Dubucs, Charlotte
Nampoothiri, Sheela
Mowat, David
Patel, Millan S.
Bracho, Ana
Cammarata-Scalisi, Francisco
Gezdirici, Alper
Fernandez-Jaen, Alberto
Hauser, Natalie
Zarate, Yuri A.
Bosanko, Katherine A.
Dieterich, Klaus
Carey, John C.
Chong, Jessica X.Aff36, Aff37
Nickerson, Deborah A.Aff37, Aff38
Bamshad, Michael J.Aff36, Aff37
Lee, Brendan H.
Yang, Xiang-Jiao
Lupski, James R.Aff3, Aff16
Campeau, Philippe M.Aff2
DB Label
Database : Springer Nature Journals
원문보기
Full Text (ScienceDirect O/A)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR)  원문복사신청 - FRIC 
10
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay 미리보기

학술저널

issue
AMERICAN JOURNAL OF HUMAN GENETICS; JAN 3 2019, 104 1, p164-p178, 15p.
Author
Machol, Keren
Rousseau, Justine
Ehresmann, Sophie
Garcia, Thomas
Thi Tuyet Mai Nguyen
Spillmann, Rebecca C.
Sullivan, Jennifer A.
Shashi, Vandana
Jiang, Yong-hui
Stong, Nicholas
Fiala, Elise
Willing, Marcia
Pfundt, Rolph
Kleefstra, Tjitske
Cho, Megan T.
McLaughlin, Heather
Rosello Piera, Monica
Orellana, Carmen
Martinez, Francisco
Caro-Llopis, Alfonso
Monfort, Sandra
Roscioli, Tony
Nixon, Cheng Yee
Buckley, Michael F.
Turner, Anne
Jones, Wendy D.
van Hasseit, Peter M.
Hofstede, Floris C.
van Gassen, Koen L., I
Brooks, Alice S.
van Slegtenhorst, Marjon A.
Lachlan, Katherine
Sebastian, Jessica
Madan-Khetarpal, Suneeta
Sonal, Desai
Sakkubai, Naidu
Thevenon, Julien
Faivre, Laurence
Maurel, Alice
Petrovski, Slave
Krantz, Ian D.
Tarpinian, Jennifer M.
Rosenfeld, Jill A.
Lee, Brendan H.
Campeau, Philippe M.
Adams, David R.
Alejandro, Mercedes E.
Allard, Patrick
Azamian, Mahshid S.
Bacino, Carlos A.
Balasubramanyam, Ashok
Barseghyan, Hayk
Batzli, Gabriel F.
Beggs, Alan H.
Behnam, Babak
Bican, Anna
Bick, David P.
Birch, Camille L.
Bonner, Devon
Boone, Braden E.
Bostwick, Bret L.
Briere, Lauren C.
Brown, Donna M.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Chen, Shan
Clark, Gary D.
Coakley, Terra R.
Cogan, Joy D.
Cooper, Cynthia M.
Cope, Heidi
Craigen, William J.
D'Souza, Precilla
Davids, Mariska
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dillon, Ani
Dipple, Katrina M.
Donnell-Fink, Laurel A.
Dorrani, Naghmeh
Dorset, Daniel C.
Douine, Emilie D.
Draper, David D.
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Eskin, Ascia
Esteves, Cecilia
Estwick, Tyra
Ferreira, Carlos
Fogel, Brent L.
Friedman, Noah D.
Gahl, William A.
Glanton, Emily
Godfrey, Rena A.
Goldstein, David B.
Gould, Sarah E.
Gourdine, Jean-Philippe F.
Groden, Catherine A.
Gropman, Andrea L.
Haendel, Melissa
Hamid, Rizwan
Hanchard, Neil A.
Handley, Lori H.
Herzog, Matthew R.
Holm, Ingrid A.
Hom, Jason
Howerton, Ellen M.
Huang, Yong
Jacob, Howard J.
Jain, Mahim
Johnston, Jean M.
Jones, Angela L.
Kohane, Isaac S.
Krasnewich, Donna M.
Krieg, Elizabeth L.
Krier, Joel B.
Lalani, Seema R.
Lalani
Lau, C. Christopher
Lazar, Jozef
Lee, Hane
Levy, Shawn E.
Lewis, Richard A.
Lincoln, Sharyn A.
Lipson, Allen
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Majcherska, Marta M.
Malicdan, May Christine, V
Mamounas, Laura A.
Manolio, Teri A.
Markello, Thomas C.
Marom, Ronit
Martinez-Agosto, Julian A.
Marwaha, Shruti
May, Thomas
McConkie-Rosell, Allyn
McCormack, Colleen E.
McCray, Alexa T.
Might, Matthew
Moretti, Paolo M.
Morimoto, Marie
Mulvihill, John J.
Murphy, Jennifer L.
Muzny, Donna M.
Nehrebecky, Michele E.
Nelson, Stan F.
Newberry, J. Scott
Newman, John H.
Nicholas, Sarah K.
Novacic, Donna
Orange, Jordan S.
Pallais, J. Carl
Palmer, Christina G. S.
Papp, Jeanette C.
Parker, Neil H.
Pena, Loren D. M.
Phillips, John A., III
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Reuter, Chloe M.
Robertson, Amy K.
Rodan, Lance H.
Sampson, Jacinda B.
Samson, Susan L.
Schoch, Kelly
Schroeder, Molly C.
Scott, Daryl A.
Sharma, Prashant
Signer, Rebecca
Silverman, Edwin K.
Sinsheimer, Janet S.
Smith, Kevin S.
Splinter, Kimberly
Stoler, Joan M.
Sweetser, David A.
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Valivullah, Zaheer M.
Vilain, Eric
Vogel, Tiphanie P.
Wahl, Colleen E.
Walley, Nicole M.
Walsh, Chris A.
Ward, Patricia A.
Waters, Katrina M.
Westerfield, Monte
Wise, Anastasia L.
Wolfe, Lynne A.
Worthey, Elizabeth A.
Yamamoto, Shinya
Yang, Yaping
Yu, Guoyun
Zastrow, Diane B.
Zheng, Allison
Undiagnosed Dis Network
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (ScienceDirect O/A)  등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR)  원문복사신청 - FRIC 
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