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[키워드: "Joss, Shelagh"]
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286
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Peer-Reviewed 학술지
발행년
-
재검색
자료유형
Academic Journals
(265)
Magazines
(21)
주제
intellectual disability
(69)
genetics
(27)
epilepsy
(21)
주제
Count
Name
intellectual disability
(
69
)
genetics
(
27
)
epilepsy
(
21
)
mutation
(
20
)
neurodevelopmental disorders
(
20
)
developmental disabilities
(
18
)
phenotype
(
17
)
genetic association studies
(
13
)
intellectual disabilities
(
13
)
mutations
(
13
)
abnormalities, multiple
(
12
)
de-novo mutations
(
12
)
gene
(
12
)
haploinsufficiency
(
12
)
microcephaly
(
11
)
humans
(
10
)
developmental delay
(
9
)
genetic mutation
(
9
)
variants
(
8
)
chromosome deletion
(
7
)
epidemiology
(
7
)
female
(
7
)
male
(
7
)
neurodevelopment
(
7
)
protein
(
7
)
seizures
(
7
)
2.1 biological and endogenous factors
(
6
)
chromosomes
(
6
)
deletion mutation
(
6
)
exome
(
6
)
genes
(
6
)
genetic predisposition to disease
(
6
)
genome
(
6
)
incidence
(
6
)
mental-retardation
(
6
)
phenotypes
(
6
)
precision
(
6
)
syndromes
(
6
)
aetiology
(
5
)
brain disorders
(
5
)
craniofacial development
(
5
)
disabilities
(
5
)
face
(
5
)
gene expression
(
5
)
genetic variation
(
5
)
genetics & heredity
(
5
)
genotypes
(
5
)
mental health
(
5
)
neurosciences
(
5
)
nuclear proteins
(
5
)
닫기
Lexile Range
1301-1500+
(11)
1101-1300
(1)
간행물
american journal of human genetics
(22)
human mutation
(16)
human molecular genetics
(14)
간행물
Count
Name
american journal of human genetics
(
22
)
human mutation
(
16
)
human molecular genetics
(
14
)
clinical genetics
(
13
)
genetics in medicine
(
13
)
brain: a journal of neurology
(
12
)
clinical dysmorphology
(
11
)
european journal of human genetics
(
11
)
american journal of medical genetics part a
(
10
)
nature genetics
(
10
)
european journal of medical genetics
(
8
)
genetics in medicine official journal of the american college of medical genetics
(
7
)
archives of disease in childhood
(
6
)
archives of disease in childhood -- education & practice edition
(
6
)
pediatrics
(
6
)
american journal of medical genetics. part a
(
5
)
european journal of pediatrics
(
5
)
nature neuroscience
(
5
)
scientific reports
(
5
)
blood
(
4
)
genome medicine
(
4
)
journal of human genetics
(
4
)
journal of medical genetics
(
4
)
molecular psychiatry
(
4
)
proceedings of the national academy of sciences of the united states of america
(
4
)
archives of disease in childhood education and practice edition
(
3
)
archives of disease in childhood-education and practice edition
(
3
)
brain
(
3
)
brain a journal of neurology
(
3
)
circulation: cardiovascular genetics
(
3
)
european journal of human genetics ejhg
(
3
)
frontiers in neurology
(
3
)
genes & development
(
3
)
genome research
(
3
)
molecular genetics & genomic medicine
(
3
)
american journal of medical genetics - a
(
2
)
annals of neurology
(
2
)
archives of disease in childhood: education and practice
(
2
)
british journal of psychiatry
(
2
)
epilepsia
(
2
)
epilepsia (series 4)
(
2
)
european journal of human genetics: ejhg
(
2
)
genetics in medicine: official journal of the american college of medical genetics and genomics
(
2
)
journal of allergy and clinical immunology
(
2
)
molecular cytogenetics
(
2
)
molecular cytogenetics (17558166)
(
2
)
nature
(
2
)
the journal of allergy and clinical immunology
(
2
)
the lancet psychiatry
(
2
)
archives of disease in childhood education and practice
(
1
)
닫기
출판사
wiley-blackwell
(27)
cell press
(18)
nature publishing group
(18)
출판사
Count
Name
wiley-blackwell
(
27
)
cell press
(
18
)
nature publishing group
(
18
)
oxford university press / usa
(
16
)
bmj publishing group
(
15
)
lippincott williams & wilkins
(
14
)
springer nature
(
12
)
wiley
(
11
)
elsevier
(
10
)
escholarship, university of california
(
8
)
wiley-liss
(
8
)
oxford univ press
(
7
)
biomed central
(
6
)
american academy of pediatrics
(
5
)
springernature
(
5
)
cold spring harbor laboratory press
(
4
)
irl press at oxford university press
(
4
)
bmj pub. group
(
3
)
cold spring harbor lab press, publications dept
(
3
)
elsevier b.v.
(
3
)
elsevier science inc
(
3
)
munksgaard
(
3
)
national academy of sciences
(
3
)
nature pub. co
(
3
)
oxford university press
(
3
)
springer
(
3
)
cambridge university press
(
2
)
elsevier inc.
(
2
)
elsevier masson sas
(
2
)
elsevier science bv
(
2
)
hindawi limited
(
2
)
nature publishing group uk
(
2
)
nature publishing group us
(
2
)
springer international publishing
(
2
)
amer acad pediatrics
(
1
)
amer soc hematology
(
1
)
biomed central ltd
(
1
)
blackwell science
(
1
)
bmc
(
1
)
bmj pub. group [etc.]
(
1
)
british medical association
(
1
)
elsevier ltd
(
1
)
frontiers media s.a.
(
1
)
frontiers research foundation
(
1
)
john wiley & sons
(
1
)
mosby
(
1
)
nature pub. group
(
1
)
nature publishing group specialist journals
(
1
)
springer verlag
(
1
)
springer-verlag
(
1
)
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언어
english
(257)
Publication Year
2019
(7)
2015
(3)
2017
(3)
Publication Year
Count
Name
2019
(
7
)
2015
(
3
)
2017
(
3
)
2011
(
2
)
2014
(
2
)
2016
(
2
)
2020
(
2
)
2008
(
1
)
2012
(
1
)
2013
(
1
)
2018
(
1
)
2021
(
1
)
2022
(
1
)
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수록데이터베이스
Science Citation Index Expanded
(81)
MEDLINE
(73)
Complementary Index
(40)
수록데이터베이스
Count
Name
Science Citation Index Expanded
(
81
)
MEDLINE
(
73
)
Complementary Index
(
40
)
Academic Search Complete
(
27
)
Supplemental Index
(
23
)
Journals@OVID
(
13
)
CINAHL Plus with Full Text
(
8
)
eScholarship
(
8
)
Springer Nature Journals
(
7
)
ScienceDirect
(
5
)
Education Source
(
1
)
닫기
PQDT
CAJ
RISS
PsycINFO
전체선택
날짜 내림차순
날짜 오름차순
연관도
10
20
30
50
1
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
학술저널
issue
European Journal of Human Genetics
. 31(12):1430-1439
Author
Huth, Emily A.
Zhao, Xiaonan
Aff1, Aff2
Owen, Nichole
Aff1, Aff2
Luna, Pamela N.
Vogel, Ida
Dorf, Inger L. H.
Joss
,
Shelagh
Clayton-Smith, Jill
Aff6, Aff7
Parker, Michael J.
Louw, Jacoba J.
Gewillig, Marc
Aff10, Aff11
Breckpot, Jeroen
Kraus, Alison
Sasaki, Erina
Kini, Usha
Aff14, Aff15
Burgess, Trent
Aff16, Aff17
Tan, Tiong Y.
Aff16, Aff17
Armstrong, Ruth
Neas, Katherine
Ferrero, Giovanni B.
Brusco, Alfredo
Aff21, Aff22
Kerstjens-Frederikse, Wihelmina S.
Rankin, Julia
Helvaty, Lindsey R.
Landis, Benjamin J.
Geddes, Gabrielle C.
Aff26, Aff27
McBride, Kim L.
Aff28, Aff29
Ware, Stephanie M.
Aff26, Aff27
Shaw, Chad A.
Lalani, Seema R.
Rosenfeld, Jill A.
Scott, Daryl A.
Aff1, Aff30, IDs41431023014514_cor32
DB Label
Database : Springer Nature Journals
원문보기
등재 - SCOPUS
조회 - Impact Factor (JCR)
등재 - Web of Science (SCIE)
2
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
학술저널
issue
In
Genetics in Medicine
February 2024 26(2)
Author
Borras, Silvia
Clark, Caroline
Dean, John
Miedzybrodzka, Zosia
Ross, Alison
Tennant, Stephen
Dabir, Tabib
Donnelly, Deirdre
Humphreys, Mervyn
Magee, Alex
McConnell, Vivienne
McKee, Shane
McNerlan, Susan
Morrison, Patrick J.
Rea, Gillian
Stewart, Fiona
Cole, Trevor
Cooper, Nicola
Cooper-Charles, Lisa
Cox, Helen
Islam, Lily
Jarvis, Joanna
Keelagher, Rebecca
Lim, Derek
McMullan, Dominic
Morton, Jenny
Naik, Swati
O’Driscoll, Mary
Ong, Kai-Ren
Osio, Deborah
Ragge, Nicola
Turton, Sarah
Vogt, Julie
Williams, Denise
Bodek, Simon
Donaldson, Alan
Hills, Alison
Low, Karen
Newbury-Ecob, Ruth
Norman, Andrew M.
Roberts, Eileen
Scurr, Ingrid
Smithson, Sarah
Tooley, Madeleine
Abbs, Steve
Armstrong, Ruth
Dunn, Carolyn
Holden, Simon
Park, Soo-Mi
Paterson, Joan
Raymond, Lucy
Reid, Evan
Sandford, Richard
Simonic, Ingrid
Tischkowitz, Marc
Woods, Geoff
Bradley, Lisa
Comerford, Joanne
Green, Andrew
Lynch, Sally
McQuaid, Shirley
Mullaney, Brendan
Berg, Jonathan
Goudie, David
Mavrak, Eleni
McLean, Joanne
McWilliam, Catherine
Reavey, Eleanor
Azam, Tara
Cleary, Elaine
Jackson, Andrew
Lam, Wayne
Lampe, Anne
Moore, David
Porteous, Mary
Baple, Emma
Baptista, Júlia
Brewer, Carole
Castle, Bruce
Kivuva, Emma
Owens, Martina
Rankin, Julia
Shaw-Smith, Charles
Turner, Claire
Turnpenny, Peter
Tysoe, Carolyn
Bradley, Therese
Davidson, Rosemarie
Gardiner, Carol
Joss
,
Shelagh
Kinning, Esther
Longman, Cheryl
McGowan, Ruth
Murday, Victoria
Pilz, Daniela
Tobias, Edward
Whiteford, Margo
Williams, Nicola
Barnicoat, Angela
Clement, Emma
Faravelli, Francesca
Hurst, Jane
Jenkins, Lucy
Jones, Wendy
Ajith Kumar, V.K.
Lees, Melissa
Loughlin, Sam
Male, Alison
Morrogh, Deborah
Rosser, Elisabeth
Scott, Richard
Wilson, Louise
Beleza, Ana
Deshpande, Charu
Flinter, Frances
Holder, Muriel
Irving, Melita
Izatt, Louise
Josifova, Dragana
Mohammed, Shehla
Molenda, Aneta
Robert, Leema
Roworth, Wendy
Ruddy, Deborah
Ryten, Mina
Yau, Shu
Bennett, Christopher
Blyth, Moira
Campbell, Jennifer
Coates, Andrea
Dobbie, Angus
Hewitt, Sarah
Hobson, Emma
Jackson, Eilidh
Jewell, Rosalyn
Kraus, Alison
Prescott, Katrina
Sheridan, Eamonn
Thomson, Jenny
Bradshaw, Kirsty
Dixit, Abhijit
Eason, Jacqueline
Haines, Rebecca
Harrison, Rachel
Mutch, Stacey
Sarkar, Ajoy
Searle, Claire
Shannon, Nora
Sharif, Abid
Suri, Mohnish
Vasudevan, Pradeep
Canham, Natalie
Ellis, Ian
Greenhalgh, Lynn
Howard, Emma
Stinton, Victoria
Swale, Andrew
Weber, Astrid
Banka, Siddharth
Breen, Catherine
Briggs, Tracy
Burkitt-Wright, Emma
Chandler, Kate
Clayton-Smith, Jill
Donnai, Dian
Douzgou, Sofia
Gaunt, Lorraine
Jones, Elizabeth
Kerr, Bronwyn
Langley, Claire
Metcalfe, Kay
Smith, Audrey
Wright, Ronnie
Bourn, David
Burn, John
Fisher, Richard
Hellens, Steve
Henderson, Alex
Montgomery, Tara
Splitt, Miranda
Straub, Volker
Wright, Michael
Zwolinski, Simon
Allen, Zoe
Bernhard, Birgitta
Brady, Angela
Brooks, Claire
Busby, Louise
Clowes, Virginia
Ghali, Neeti
Holder, Susan
Ibitoye, Rita
Wakeling, Emma
Blair, Edward
Carmichael, Jenny
Cilliers, Deirdre
Clasper, Susan
Gibbons, Richard
Kini, Usha
Lester, Tracy
Nemeth, Andrea
Poulton, Joanna
Price, Sue
Shears, Debbie
Stewart, Helen
Wilkie, Andrew
Albaba, Shadi
Baker, Duncan
Balasubramanian, Meena
Johnson, Diana
Parker, Michael
Quarrell, Oliver
Stewart, Alison
Willoughby, Josh
Crosby, Charlene
Elmslie, Frances
Homfray, Tessa
Jin, Huilin
Lahiri, Nayana
Mansour, Sahar
Marks, Karen
McEntagart, Meriel
Saggar, Anand
Tatton-Brown, Kate
Butler, Rachel
Clarke, Angus
Corrin, Sian
Fry, Andrew
Kamath, Arveen
McCann, Emma
Mugalaasi, Hood
Pottinger, Caroline
Procter, Annie
Sampson, Julian
Sansbury, Francis
Varghese, Vinod
Baralle, Diana
Callaway, Alison
Cassidy, Emma J.
Daniels, Stacey
Douglas, Andrew
Foulds, Nicola
Hunt, David
Kharbanda, Mira
Lachlan, Katherine
Mercer, Catherine
Side, Lucy
Temple, I. Karen
Wellesley, Diana
Ambrose, J.C.
Arumugam, P.
Baple, E.L.
Bleda, M.
Boardman-Pretty, F.
Boissiere, J.M.
Boustred, C.R.
Caulfield, M.J.
Chan, G.C.
Craig, C.E.H.
Daugherty, L.C.
de Burca, A.
Devereau, A.
Elgar, G.
Foulger, R.E.
Fowler, T.
FurióTarí, P.
Hackett, J.M.
Halai, D.
Hamblin, A.
Henderson, S.
Holman, J.E.
Hubbard, T.J.P.
Ibáñez, K.
Jackson, R.
Jones, L.J.
Kasperaviciute, D.
Kayikci, M.
Lahnstein, L.
Lawson, K.
Leigh, S.E.A.
Leong, I.U.S.
Lopez, F.J.
MaleadyCrowe, F.
Mason, J.
McDonagh, E.M.
Moutsianas, L.
Mueller, M.
Murugaesu, N.
Need, A.C.
Odhams, C.A.
Patch, C.
Perez-Gil, D.
Polychronopoulos, D.
Pullinger, J.
Rahim, T.
Rendon, A.
Riesgo-Ferreiro, P.
Rogers, T.
Ryten, M.
Savage, K.
Sawant, K.
Scott, R.H.
Siddiq, A.
Sieghart, A.
Smedley, D.
Smith, K.R.
Sosinsky, A.
Spooner, W.
Stevens, H.E.
Stuckey, A.
Sultana, R.
Thomas, E.R.A.
Thompson, S.R.
Tucci, A.
Walsh, E.
Watters, S.A.
Welland, M.J.
Williams, E.
Witkowska, K.
Acosta, Maria T.
Adam, Margaret
Adams, David R.
Agrawal, Pankaj B.
Alejandro, Mercedes E.
Alvey, Justin
Amendola, Laura
Andrews, Ashley
Ashley, Euan A.
Azamian, Mahshid S.
Bacino, Carlos A.
Bademci, Guney
Baker, Eva
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bennet, Jimmy
Berg-Rood, Beverly
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonnenmann, Carsten
Bonner, Devon
Botto, Lorenzo
Boyd, Brenna
Briere, Lauren C.
Brokamp, Elly
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Peter Chang, Ta Chen
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole, F. Sessions
Colley, Heather A.
Cooper, Cynthia M.
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D'Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davids, Mariska
Dayal, Jyoti G.
Deardorff, Matthew
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Douine, Emilie D.
Draper, David D.
Duncan, Laura
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Esteves, Cecilia
Estwick, Tyra
Falk, Marni
Fernandez, Liliana
Ferreira, Carlos
Fieg, Elizabeth L.
Findley, Laurie C.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Fresard, Laure
Gahl, William A.
Glass, Ian
Godfrey, Rena A.
Golden-Grant, Katie
Goldman, Alica M.
Goldstein, David B.
Grajewski, Alana
Groden, Catherine A.
Gropman, Andrea L.
Gutierrez, Irma
Hahn, Sihoun
Hamid, Rizwan
Hanchard, Neil A.
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Huang, Yong
Isasi, Rosario
Jamal, Fariha
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Johnston, Jean M.
Karaviti, Lefkothea
Kelley, Emily G.
Kennedy, Jennifer
Kiley, Dana
Kohane, Isaac S.
Kohler, Jennefer N.
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Korrick, Susan
Koziura, Mary
Krier, Joel B.
Lalani, Seema R.
Lam, Byron
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
Lau, C. Christopher
LeBlanc, Kimberly
Lee, Brendan H.
Lee, Hane
Levitt, Roy
Lewis, Richard A.
Lincoln, Sharyn A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Majcherska, Marta M.
Mak, Bryan
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Maravilla, Kenneth
Markello, Thomas C.
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McCormack, Colleen E.
McCray, Alexa T.
McGee, Elisabeth
Mefford, Heather
Merritt, J. Lawrence
Might, Matthew
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo M.
Morimoto, Marie
Mulvihill, John J.
Murdock, David R.
Nakano-Okuno, Mariko
Nath, Avi
Nelson, Stan F.
Newman, John H.
Nicholas, Sarah K.
Nickerson, Deborah
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Papp, Jeanette C.
Parker, Neil H.
Phillips, John A.
Posey, Jennifer E.
Potocki, Lorraine
Pusey, Barbara N.
Quinlan, Aaron
Raskind, Wendy
Raja, Archana N.
Rao, Deepak A.
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenwasser, Natalie
Ruzhnikov, Maura
Sacco, Ralph
Sampson, Jacinda B.
Samson, Susan L.
Saporta, Mario
Scott, C. Ron
Schaechter, Judy
Schedl, Timothy
Scott, Daryl A.
Sharma, Prashant
Shin, Jimann
Signer, Rebecca
Sillari, Catherine H.
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solem, Emily
Solnica-Krezel, Lilianna
Stoler, Joan M.
Stong, Nicholas
Sullivan, Jennifer A.
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tamburro, Cecelia P.
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Tucker, Brianna M.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Wallace, Stephanie
Walley, Nicole M.
Walsh, Chris A.
Walker, Melissa
Wambach, Jennifer
Wan, Jijun
Wang, Lee-Kai
Wangler, Michael F.
Ward, Patricia A.
Wegner, Daniel
Wener, Mark
Wenger, Tara
Perry, Katherine Wesseling
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Woods, Jeremy D.
Yamamoto, Shinya
Yang, John
Yu, Guoyun
Zastrow, Diane B.
Zhao, Chunli
Zuchner, Stephan
Jeffries, Lauren
Mis, Emily K.
McWalter, Kirsty
Donkervoort, Sandra
Brodsky, Nina N.
Carpier, Jean-Marie
Ji, Weizhen
Ionita, Cristian
Roy, Bhaskar
Morrow, Jon S.
Darbinyan, Armine
Iyer, Krishna
Aul, Ritu B.
Chao, Katherine R.
Cobbold, Laura
Cohen, Stacey
Custodio, Helena M.
Drummond-Borg, Margaret
Finanger, Erika
Hainline, Bryan E.
Helbig, Ingo
Hewson, Stacy
Hu, Ying
Jackson, Adam
Konstantino, Monica
Leach, Meganne E.
McCormick, David
Nelson, Stanley
Nguyen, Joanne
Nugent, Kimberly
Ortega, Lucy
Goodkin, Howard P.
Roeder, Elizabeth
Roy, Sani
Sapp, Katie
Saade, Dimah
Sisodiya, Sanjay M.
Stals, Karen
Towner, Shelley
Wilson, William
Khokha, Mustafa K.
Bönnemann, Carsten G.
Lucas, Carrie L.
Lakhani, Saquib A.
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3
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
학술저널
issue
American Journal of Human Genetics
. 108(2)
Author
den Hoed, Joery
de Boer, Elke
Voisin, Norine
Dingemans, Alexander
Guex, Nicolas
Wiel, Laurens
Nellaker, Christoffer
Amudhavalli, Shivarajan
Banka, Siddharth
Bena, Frederique
Ben-Zeev, Bruria
Bonagura, Vincent
Bruel, Ange-Line
Brunet, Theresa
Brunner, Han
Chew, Hui
Chrast, Jacqueline
Cimbalistienė, Loreta
Coon, Hilary
Délot, Emmanuèlle
Démurger, Florence
Denommé-Pichon, Anne-Sophie
Depienne, Christel
Donnai, Dian
Dyment, David
Elpeleg, Orly
Faivre, Laurence
Gilissen, Christian
Granger, Leslie
Haber, Benjamin
Hachiya, Yasuo
Abedi, Yasmin
Hanebeck, Jennifer
Hehir-Kwa, Jayne
Horist, Brooke
Itai, Toshiyuki
Jackson, Adam
Jewell, Rosalyn
Jones, Kelly
Joss
,
Shelagh
Kashii, Hirofumi
Kato, Mitsuhiro
Kattentidt-Mouravieva, Anja
Kok, Fernando
Kotzaeridou, Urania
Krishnamurthy, Vidya
Kučinskas, Vaidutis
Kuechler, Alma
Lavillaureix, Alinoë
Liu, Pengfei
Manwaring, Linda
Matsumoto, Naomichi
Mazel, Benoît
McWalter, Kirsty
Meiner, Vardiella
Mikati, Mohamad
Miyatake, Satoko
Mizuguchi, Takeshi
Moey, Lip
Mohammed, Shehla
Mor-Shaked, Hagar
Mountford, Hayley
Newbury-Ecob, Ruth
Odent, Sylvie
Orec, Laura
Osmond, Matthew
Palculict, Timothy
Parker, Michael
Petersen, Andrea
Pfundt, Rolph
Preikšaitienė, Eglė
Radtke, Kelly
Ranza, Emmanuelle
Rosenfeld, Jill
Santiago-Sim, Teresa
Schwager, Caitlin
Sinnema, Margje
Snijders Blok, Lot
Spillmann, Rebecca
Stegmann, Alexander
Thiffault, Isabelle
Tran, Linh
Vaknin-Dembinsky, Adi
Vedovato-Dos-Santos, Juliana
Schrier Vergano, Samantha
Vilain, Eric
Vitobello, Antonio
Wagner, Matias
Waheeb, Androu
Willing, Marcia
Zuccarelli, Britton
Kini, Usha
Newbury, Dianne
Kleefstra, Tjitske
Reymond, Alexandre
Fisher, Simon
Vissers, Lisenka
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4
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
학술저널
issue
Molecular Psychiatry
. 28(2):668-697
Author
Palmer, Elizabeth E.
Aff1, Aff2, IDs41380022018529_cor1
Pusch, Michael
Aff3, IDs41380022018529_cor2
Picollo, Alessandra
Forwood, Caitlin
Nguyen, Matthew H.
Aff2, Aff4
Suckow, Vanessa
Gibbons, Jessica
Hoff, Alva
Aff3, Aff6
Sigfrid, Lisa
Aff3, Aff6
Megarbane, Andre
Aff7, Aff8
Nizon, Mathilde
Aff9, Aff10
Cogné, Benjamin
Aff9, Aff10
Beneteau, Claire
Alkuraya, Fowzan S.
Chedrawi, Aziza
Hashem, Mais O.
Stamberger, Hannah
Aff13, Aff14
Weckhuysen, Sarah
Aff13, Aff14, Aff15
Vanlander, Arnaud
Ceulemans, Berten
Rajagopalan, Sulekha
Nunn, Kenneth
Arpin, Stéphanie
Raynaud, Martine
Motter, Constance S.
Ward-Melver, Catherine
Janssens, Katrien
Meuwissen, Marije
Beysen, Diane
Dikow, Nicola
Grimmel, Mona
Haack, Tobias B.
Clement, Emma
McTague, Amy
Aff26, Aff27
Hunt, David
Townshend, Sharron
Ward, Michelle
Richards, Linda J.
Aff30, Aff31
Simons, Cas
Aff32, Aff33
Costain, Gregory
Dupuis, Lucie
Mendoza-Londono, Roberto
Dudding-Byth, Tracy
Aff35, Aff36
Boyle, Jackie
Saunders, Carol
Aff37, Aff38
Fleming, Emily
El Chehadeh, Salima
Aff40, Aff41
Spitz, Marie-Aude
Piton, Amelie
Gerard, Bénédicte
Abi Warde, Marie-Thérèse
Aff42, Aff44
Rea, Gillian
McKenna, Caoimhe
Douzgou, Sofia
Aff46, Aff47
Banka, Siddharth
Aff47, Aff48
Akman, Cigdem
Bain, Jennifer M.
Sands, Tristan T.
Wilson, Golder N.
Silvertooth, Erin J.
Miller, Lauren
Lederer, Damien
Sachdev, Rani
Aff1, Aff2
Macintosh, Rebecca
Aff1, Aff2
Monestier, Olivier
Karadurmus, Deniz
Collins, Felicity
Carter, Melissa
Rohena, Luis
Aff56, Aff57
Willemsen, Marjolein H.
Ockeloen, Charlotte W.
Pfundt, Rolph
Kroft, Sanne D.
Field, Michael
Laranjeira, Francisco E. R.
Fortuna, Ana M.
Soares, Ana R.
Michaud, Vincent
Aff62, Aff63
Naudion, Sophie
Golla, Sailaja
Weaver, David D.
Bird, Lynne M.
Friedman, Jennifer
Clowes, Virginia
Aff67, Aff68
Joss
,
Shelagh
Pölsler, Laura
Campeau, Philippe M.
Blazo, Maria
Bijlsma, Emilia K.
Rosenfeld, Jill A.
Aff74, Aff75
Beetz, Christian
Powis, Zöe
McWalter, Kirsty
Brandt, Tracy
Torti, Erin
Mathot, Mikaël
Mohammad, Shekeeb S.
Aff18, Aff80
Armstrong, Ruth
Kalscheuer, Vera M.
Aff5, IDs41380022018529_cor99
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Database : Springer Nature Journals
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5
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients
학술저널
issue
Scientific Reports
. 12(1)
Author
Rendtorff, Nanna Dahl
Aff1, IDs4159802218040y_cor1
Karstensen, Helena Gásdal
Lodahl, Marianne
Tolmie, John
McWilliam, Catherine
Bak, Mads
Aff1, Aff4, Aff5
Tommerup, Niels
Aff4, Aff5
Nazaryan-Petersen, Lusine
Aff4, Aff5, Aff6
Kunst, Henricus
Aff7, Aff8
Wong, Melanie
Joss
,
Shelagh
Carelli, Valerio
Aff11, Aff12
Tranebjærg, Lisbeth
Aff1, Aff13, IDs4159802218040y_cor13
DB Label
Database : Springer Nature Journals
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Full Text (원문보기)
OA (Springer)
OA (Nature)
등재 - SCOPUS
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등재 - Web of Science (SCIE)
6
KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
학술저널
issue
Genetics in Medicine
. 21(4)
Author
Kennedy, Joanna
Goudie, David
Blair, Edward
Chandler, Kate
Joss
,
Shelagh
McKay, Victoria
Green, Andrew
Armstrong, Ruth
Lees, Melissa
Kamien, Benjamin
Hopper, Bruce
Tan, Tiong Yang
Yap, Patrick
Stark, Zornitza
Okamoto, Nobuhiko
Miyake, Noriko
Matsumoto, Naomichi
Macnamara, Ellen
Murphy, Jennifer L
McCormick, Elizabeth
Hakonarson, Hakon
Falk, Marni J
Li, Dong
Blackburn, Patrick
Klee, Eric
Babovic-Vuksanovic, Dusica
Schelley, Susan
Hudgins, Louanne
Kant, Sarina
Isidor, Bertrand
Cogne, Benjamin
Bradbury, Kimberley
Williams, Mark
Patel, Chirag
Heussler, Helen
Duff-Farrier, Celia
Lakeman, Phillis
Scurr, Ingrid
Kini, Usha
Elting, Mariet
Reijnders, Margot
Schuurs-Hoeijmakers, Janneke
Wafik, Mohamed
Blomhoff, Anne
Ruivenkamp, Claudia AL
Nibbeling, Esther
Dingemans, Alexander JM
Douine, Emilie D
Nelson, Stanley F
Hempel, Maja
Bierhals, Tatjana
Lessel, Davor
Johannsen, Jessika
Arboleda, Valerie A
Newbury-Ecob, Ruth
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7
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
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
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8
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
학술저널
issue
American Journal of Human Genetics
. 102(6)
Author
Reijnders, Margot RF
Miller, Kerry A
Alvi, Mohsan
Goos, Jacqueline AC
Lees, Melissa M
de Burca, Anna
Henderson, Alex
Kraus, Alison
Mikat, Barbara
de Vries, Bert BA
Isidor, Bertrand
Kerr, Bronwyn
Marcelis, Carlo
Schluth-Bolard, Caroline
Deshpande, Charu
Ruivenkamp, Claudia AL
Wieczorek, Dagmar
Study, The Deciphering Developmental Disorders
Baralle, Diana
Blair, Edward M
Engels, Hartmut
Lüdecke, Hermann-Josef
Eason, Jacqueline
Santen, Gijs WE
Clayton-Smith, Jill
Chandler, Kate
Tatton-Brown, Katrina
Payne, Katelyn
Helbig, Katherine
Radtke, Kelly
Nugent, Kimberly M
Cremer, Kirsten
Strom, Tim M
Bird, Lynne M
Sinnema, Margje
Bitner-Glindzicz, Maria
van Dooren, Marieke F
Alders, Marielle
Koopmans, Marije
Brick, Lauren
Kozenko, Mariya
Harline, Megan L
Klaassens, Merel
Steinraths, Michelle
Cooper, Nicola S
Edery, Patrick
Yap, Patrick
Terhal, Paulien A
van der Spek, Peter J
Lakeman, Phillis
Taylor, Rachel L
Littlejohn, Rebecca O
Pfundt, Rolph
Mercimek-Andrews, Saadet
Stegmann, Alexander PA
Kant, Sarina G
McLean, Scott
Joss
,
Shelagh
Swagemakers, Sigrid MA
Douzgou, Sofia
Wall, Steven A
Küry, Sébastien
Calpena, Eduardo
Koelling, Nils
McGowan, Simon J
Twigg, Stephen RF
Mathijssen, Irene MJ
Nellaker, Christoffer
Brunner, Han G
Wilkie, Andrew OM
DB Label
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9
Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study
학술저널
issue
In
The Lancet Psychiatry
September 2022 9(9):715-724
Author
Wolstencroft, Jeanne
Wicks, Francesca
Srinivasan, Ramya
Erwood, Marie
Lafont, Amy
Timur, Husne
Ye, Zheng
Walker, Susan
Printzlau, Frida
Juj, Manoj
Davies, Sarah
Denyer, Hayley
Watkins, Alice
Kerry, Eleanor
Coscini, Nadia
Fatih, Nasrtullah
Lucock, Anna
Denaxas, Spiros
Mandy, William
Walker, Neil
Wallwork, Sarah
Dewhurst, Eleanor
Cuthbert, Andrew
Challenger, Aimee
Andrews, Sophie
Holmans, Peter
Bowen, Samantha
Bradley, Karen
Birch, Philippa
Tong, Molly
Lewis, Nicola
Ray, Sinead
Sopp, Matthew
Moss, Hayley
Wynn, Sarah
Searle, Beverley
Robertson, Lisa
Berg, Jonathan
Lampe, Anne
Joss
,
Shelagh
Brennan, Paul
Kraus, Alison
Lahiri, Nayana
Weber, Astrid
Rawson, Myfanwy
Johnson, Diana
Vasudevan, Pradeep
Harrison, Rachel
Williams, Denise
Maher, Eamonn
Kini, Usha
Van Dijk, Fleur
Clowes, Virginia
Gurasashvilli, Jana
Mansour, Sahar
Holder-Espinasse, Muriel
Watford, Amy
Rankin, Julia
Baralle, Diana
Procter, Annie
Ford, Tamsin
Baker, Kate
Chawner, Samuel
Hall, Jeremy
Van den Bree, Marianne B M
Owen, Michael J
Skuse, David
Raymond, F Lucy
Chawner, Samuel J R A
van den Bree, Marianne B M
DB Label
Database : ScienceDirect
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Full Text (Clinical Key)
등재 - SCOPUS
10
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
학술저널
issue
MOVEMENT DISORDERS
; NOV 14 2023, 12p.
Author
Tolonen, Jussi Pekka
Parolin Schnekenberg, Ricardo
Mcgowan, Simon
Sims, David
Mcentagart, Meriel
Elmslie, Frances
Shears, Debbie
Stewart, Helen
Tofaris, George K.
Dabir, Tabib
Morrison, Patrick J.
Johnson, Diana
Hadjivassiliou, Marios
Ellard, Sian
Shaw-Smith, Charles
Znaczko, Anna
Dixit, Abhijit
Suri, Mohnish
Sarkar, Ajoy
Harrison, Rachel E.
Jones, Gabriela
Houlden, Henry
Ceravolo, Giorgia
Jarvis, Joanna
Williams, Jonathan
Shanks, Morag E.
Clouston, Penny
Rankin, Julia
Blumkin, Lubov
Lerman-Sagie, Tally
Ponger, Penina
Raskin, Salmo
Granath, Katariina
Uusimaa, Johanna
Conti, Hector
Mccann, Emma
Joss
,
Shelagh
Blakes, Alexander J. M.
Metcalfe, Kay
Kingston, Helen
Bertoli, Marta
Kneen, Rachel
Lynch, Sally Ann
Martinez Albaladejo, Inmaculada
Moore, Austen Peter
Jones, Wendy D.
Becker, Esther B. E.
Nemeth, Andrea H.
Genomics England Res Consortium
DB Label
Database : Science Citation Index Expanded
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조회 - Impact Factor (JCR)
등재 - Web of Science
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원문복사신청 - RISS
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RISS-한국교육학술정보원
NDSL 과학기술정보통합서비스
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과학기술정책연구원(STEPI)
광주과학기술원(K-JIST)
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한국과학기술연구원(KIST)
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한국해양연구원(KORDI)
한국화학연구원(KRICT)
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