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19
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genetics
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15
)
intellectual disability
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15
)
mutations
(
14
)
genetic mutation
(
12
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10
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9
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8
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8
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8
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8
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proteins
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8
)
2.1 biological and endogenous factors
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7
)
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7
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biological sciences
(
7
)
disease
(
7
)
female
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7
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genes
(
7
)
genetics & heredity
(
7
)
haploinsufficiency
(
7
)
male
(
7
)
medical and health sciences
(
7
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phenotypes
(
7
)
deficiency
(
6
)
diagnosis
(
6
)
dna-binding proteins
(
6
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expression
(
6
)
genetic association studies
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6
)
mitochondrial diseases
(
6
)
molecular genetics
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6
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6
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6
)
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6
)
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5
)
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(
5
)
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(
5
)
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(
5
)
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5
)
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(
5
)
human genome
(
5
)
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(
5
)
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(
5
)
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(
4
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4
)
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4
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4
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4
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31
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15
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11
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7
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6
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6
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5
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4
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4
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4
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4
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4
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4
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4
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4
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2
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2
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2
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npj parkinsons disease
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2
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science advances
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2
)
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(
1
)
circulation
(
1
)
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(
1
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(
1
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1
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1
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1
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1
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1
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26
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11
)
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10
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9
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9
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8
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7
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6
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6
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wiley
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5
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4
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springer nature
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4
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3
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elsevier inc.
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3
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karger
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3
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3
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springer
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springernature
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3
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2
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2
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2
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2
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2
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oxford university press
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2
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academic press
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1
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1
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1
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1
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1
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1
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(
1
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1
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(
1
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1
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hindawi limited
(
1
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(
1
)
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(
1
)
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(
1
)
munksgaard
(
1
)
nature pub. co
(
1
)
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1
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pergamon press
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1
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1
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2015
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2018
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3
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2016
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2
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(
2
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1
)
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1
)
2021
(
1
)
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Science Citation Index Expanded
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MEDLINE
(47)
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(24)
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Name
Science Citation Index Expanded
(
56
)
MEDLINE
(
47
)
Complementary Index
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24
)
Academic Search Complete
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19
)
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11
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eScholarship
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9
)
Supplemental Index
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8
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ScienceDirect
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연관도
10
20
30
50
1
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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2
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
학술저널
issue
American Journal of Human Genetics
. 104(6)
Author
O’Donnell-Luria, Anne H
Pais, Lynn S
Faundes, Víctor
Wood, Jordan C
Sveden, Abigail
Luria, Victor
Jamra, Rami Abou
Accogli, Andrea
Amburgey, Kimberly
Anderlid, Britt Marie
Azzarello-Burri, Silvia
Basinger, Alice A
Bianchini, Claudia
Bird, Lynne M
Buchert, Rebecca
Carre, Wilfrid
Ceulemans, Sophia
Charles, Perrine
Cox, Helen
Culliton, Lisa
Currò, Aurora
Study, Deciphering Developmental Disorders
McRae, Jeremy F
Clayton, Stephen
Fitzgerald, Tomas W
Kaplanis, Joanna
Prigmore, Elena
Rajan, Diana
Sifrim, Alejandro
Aitken, Stuart
Akawi, Nadia
Alvi, Mohsan
Ambridge, Kirsty
Barrett, Daniel M
Bayzetinova, Tanya
Jones, Philip
Jones, Wendy D
King, Daniel
Krishnappa, Netravathi
Mason, Laura E
Singh, Tarjinder
Tivey, Adrian R
Ahmed, Munaza
Anjum, Uruj
Archer, Hayley
Armstrong, Ruth
Awada, Jana
Balasubramanian, Meena
Banka, Siddharth
Baralle, Diana
Barnicoat, Angela
Batstone, Paul
Baty, David
Bennett, Chris
Berg, Jonathan
Bernhard, Birgitta
Bevan, A Paul
Bitner-Glindzicz, Maria
Blair, Edward
Blyth, Moira
Bohanna, David
Bourdon, Louise
Bourn, David
Bradley, Lisa
Brady, Angela
Brent, Simon
Brewer, Carole
Brunstrom, Kate
Bunyan, David J
Burn, John
Canham, Natalie
Castle, Bruce
Chandler, Kate
Chatzimichali, Elena
Cilliers, Deirdre
Clarke, Angus
Clasper, Susan
Clayton-Smith, Jill
Clowes, Virginia
Coates, Andrea
Cole, Trevor
Colgiu, Irina
Collins, Amanda
Collinson, Morag N
Connell, Fiona
Cooper, Nicola
Cresswell, Lara
Cross, Gareth
Crow, Yanick
D’Alessandro, Mariella
Dabir, Tabib
Davidson, Rosemarie
Davies, Sally
de Vries, Dylan
Dean, John
Deshpande
,
Charu
Devlin, Gemma
Dixit, Abhijit
Dobbie, Angus
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3
Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset
학술저널
issue
npj Parkinson's Disease
. 5(1)
Author
Billingsley, Kimberley J
Barbosa, Ines A
Bandrés-Ciga, Sara
Quinn, John P
Bubb, Vivien J
Deshpande
,
Charu
Botia, Juan A
Reynolds, Regina H
Zhang, David
Simpson, Michael A
Blauwendraat, Cornelis
Gan-Or, Ziv
Gibbs, J Raphael
Nalls, Mike A
Singleton, Andrew
Ryten, Mina
Koks, Sulev
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4
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
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5
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
학술저널
issue
American Journal of Human Genetics
. 100(2)
Author
Arno, Gavin
Carss, Keren J
Hull, Sarah
Zihni, Ceniz
Robson, Anthony G
Fiorentino, Alessia
Hardcastle, Alison J
Holder, Graham E
Cheetham, Michael E
Plagnol, Vincent
Moore, Anthony
Raymond, F Lucy
Matter, Karl
Balda, Maria S
Webster, Andrew R
Black, Graeme
Hall, Georgina
Ingram, Stuart
Gillespie, Rachel
Manson, Forbes
Sergouniotis, Panagiotis
Inglehearn, Chris
Toomes, Carmel
Ali, Manir
McKibbin, Martin
Poulter, James
Khan, Kamron
Lord, Emma
Nemeth, Andrea
Downes, Susan
Halford, Stephanie
Yu, Jing
Lise, Stefano
Ponitkos, Nikos
Michaelides, Michel
Webster, Andrew
van Heyningen, Veronica
Aitman, Timothy
Alachkar, Hana
Ali, Sonia
Allen, Louise
Allsup, David
Ambegaonkar, Gautum
Anderson, Julie
Antrobus, Richard
Armstrong, Ruth
Arumugakani, Gururaj
Ashford, Sofie
Astle, William
Attwood, Antony
Austin, Steve
Bacchelli, Chiara
Bakchoul, Tamam
Bariana, Tadbir K
Baxendale, Helen
Bennett, David
Bethune, Claire
Bibi, Shahnaz
Bitner-Glindzicz, Maria
Bleda, Marta
Boggard, Harm
Bolton-Maggs, Paula
Booth, Claire
Bradley, John R
Brady, Angie
Brown, Matthew
Browning, Michael
Bryson, Christine
Burns, Siobhan
Calleja, Paul
Canham, Natalie
Carmichael, Jenny
Carss, Keren
Caulfield, Mark
Chalmers, Elizabeth
Chandra, Anita
Chinnery, Patrick
Chitre, Manali
Church, Colin
Clement, Emma
Clements-Brod, Naomi
Clowes, Virginia
Coghlan, Gerry
Collins, Peter
Cooper, Nichola
Creaser-Myers, Amanda
DaCosta, Rosa
Daugherty, Louise
Davies, Sophie
Davis, John
De Vries, Minka
Deegan, Patrick
Deevi, Sri VV
Deshpande
,
Charu
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6
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
학술저널
issue
American Journal of Human Genetics
. 100(1)
Author
Carss, Keren J
Arno, Gavin
Erwood, Marie
Stephens, Jonathan
Sanchis-Juan, Alba
Hull, Sarah
Megy, Karyn
Grozeva, Detelina
Dewhurst, Eleanor
Malka, Samantha
Plagnol, Vincent
Penkett, Christopher
Stirrups, Kathleen
Rizzo, Roberta
Wright, Genevieve
Josifova, Dragana
Bitner-Glindzicz, Maria
Scott, Richard H
Clement, Emma
Allen, Louise
Armstrong, Ruth
Brady, Angela F
Carmichael, Jenny
Chitre, Manali
Henderson, Robert HH
Hurst, Jane
MacLaren, Robert E
Murphy, Elaine
Paterson, Joan
Rosser, Elisabeth
Thompson, Dorothy A
Wakeling, Emma
Ouwehand, Willem H
Michaelides, Michel
Moore, Anthony T
Consortium, NIHR-BioResource Rare Diseases
Aitman, Timothy
Alachkar, Hana
Ali, Sonia
Allsup, David
Ambegaonkar, Gautum
Anderson, Julie
Antrobus, Richard
Arumugakani, Gururaj
Ashford, Sofie
Astle, William
Attwood, Antony
Austin, Steve
Bacchelli, Chiara
Bakchoul, Tamam
Bariana, Tadbir K
Baxendale, Helen
Bennett, David
Bethune, Claire
Bibi, Shahnaz
Bleda, Marta
Boggard, Harm
Bolton-Maggs, Paula
Booth, Claire
Bradley, John R
Brady, Angie
Brown, Matthew
Browning, Michael
Bryson, Christine
Burns, Siobhan
Calleja, Paul
Canham, Natalie
Carss, Keren
Caulfield, Mark
Chalmers, Elizabeth
Chandra, Anita
Chinnery, Patrick
Church, Colin
Clements-Brod, Naomi
Clowes, Virginia
Coghlan, Gerry
Collins, Peter
Cooper, Nichola
Creaser-Myers, Amanda
DaCosta, Rosa
Daugherty, Louise
Davies, Sophie
Davis, John
De Vries, Minka
Deegan, Patrick
Deevi, Sri VV
Deshpande
,
Charu
Devlin, Lisa
Doffinger, Rainer
Dormand, Natalie
Drewe, Elizabeth
Edgar, David
DB Label
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7
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes
학술저널
issue
Journal of Medical Genetics
. 52(3)
Author
Waters, Aoife M
Asfahani, Rowan
Carroll, Paula
Bicknell, Louise
Lescai, Francesco
Bright, Alison
Chanudet, Estelle
Brooks, Anthony
Christou-Savina, Sonja
Osman, Guled
Walsh, Patrick
Bacchelli, Chiara
Chapgier, Ariane
Vernay, Bertrand
Bader, David M
Deshpande
,
Charu
O' Sullivan, Mary
Ocaka, Louise
Stanescu, Horia
Stewart, Helen S
Hildebrandt, Friedhelm
Otto, Edgar
Johnson, Colin A
Szymanska, Katarzyna
Katsanis, Nicholas
Davis, Erica
Kleta, Robert
Hubank, Mike
Doxsey, Stephen
Jackson, Andrew
Stupka, Elia
Winey, Mark
Beales, Philip L
DB Label
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8
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
학술저널
issue
Human Molecular Genetics
. 23(10)
Author
Lionel, Anath C
Tammimies, Kristiina
Vaags, Andrea K
Rosenfeld, Jill A
Ahn, Joo Wook
Merico, Daniele
Noor, Abdul
Runke, Cassandra K
Pillalamarri, Vamsee K
Carter, Melissa T
Gazzellone, Matthew J
Thiruvahindrapuram, Bhooma
Fagerberg, Christina
Laulund, Lone W
Pellecchia, Giovanna
Lamoureux, Sylvia
Deshpande
,
Charu
Clayton-Smith, Jill
White, Ann C
Leather, Susan
Trounce, John
Bedford, H Melanie
Hatchwell, Eli
Eis, Peggy S
Yuen, Ryan KC
Walker, Susan
Uddin, Mohammed
Geraghty, Michael T
Nikkel, Sarah M
Tomiak, Eva M
Fernandez, Bridget A
Soreni, Noam
Crosbie, Jennifer
Arnold, Paul D
Schachar, Russell J
Roberts, Wendy
Paterson, Andrew D
So, Joyce
Szatmari, Peter
Chrysler, Christina
Woodbury-Smith, Marc
Lowry, R Brian
Zwaigenbaum, Lonnie
Mandyam, Divya
Wei, John
MacDonald, Jeffrey R
Howe, Jennifer L
Nalpathamkalam, Thomas
Wang, Zhuozhi
Tolson, Daniel
Cobb, David S
Wilks, Timothy M
Sorensen, Mark J
Bader, Patricia I
An, Yu
Wu, Bai-Lin
Musumeci, Sebastiano Antonino
Romano, Corrado
Postorivo, Diana
Nardone, Anna M
Della Monica, Matteo
Scarano, Gioacchino
Zoccante, Leonardo
Novara, Francesca
Zuffardi, Orsetta
Ciccone, Roberto
Antona, Vincenzo
Carella, Massimo
Zelante, Leopoldo
Cavalli, Pietro
Poggiani, Carlo
Cavallari, Ugo
Argiropoulos, Bob
Chernos, Judy
Brasch-Andersen, Charlotte
Speevak, Marsha
Fichera, Marco
Ogilvie, Caroline Mackie
Shen, Yiping
Hodge, Jennelle C
Talkowski, Michael E
Stavropoulos, Dimitri J
Marshall, Christian R
Scherer, Stephen W
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9
Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders.
학술저널
issue
Human Molecular Genetics; 11/15/2023, Vol. 32 Issue 22, p3123-3134, 12p
Author
Lee, Sunwoo
Menzies, Lara
Hay, Eleanor
Ochoa, Eguzkine
Docquier, France
Rodger, Fay
Deshpande
,
Charu
Foulds, Nicola C
Jacquemont, Sébastien
Jizi, Khadije
Kiep, Henriette
Kraus, Alison
Löhner, Katharina
Morrison, Patrick J
Popp, Bernt
Richardson, Ruth
Haeringen, Arie van
Martin, Ezequiel
Toribio, Ana
Li, Fudong
DB Label
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10
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
학술저널
issue
SCIENCE ADVANCES
; MAR 8 2023, 9 10, peade1463 16p.
Author
Sheppard, Sarah E.
Bryant, Laura
Wickramasekara, Rochelle N.
Vaccaro, Courtney
Robertson, Brynn
Hallgren, Jodi
Hulen, Jason
Watson, Cynthia J.
Faundes, Victor
Duffourd, Yannis
Lee, Pearl
Simon, M. Celeste
de la Cruz, Xavier
Padilla, Natalia
Flores-Mendez, Marco
Akizu, Naiara
Smiler, Jacqueline
Da Silva, Renata Pellegrino
Li, Dong
March, Michael
Diaz-Rosado, Abdias
de Barcelos, Isabella Peixoto
Choa, Zhao Xiang
Lim, Chin Yan
Dubourg, Christele
Journel, Hubert
Demurger, Florence
Mulhern, Maureen
Akman, Cigdem
Lippa, Natalle
Andrews, Marisa
Baldridge, Dustin
Constantino, John
Rauch, Anita
van Haeingen, Arie
Snoeck-Streef, Irina
Chow, Penny
Hing, Anne
Graham, John M., Jr.
Au, Margaret
Falvre, Laurence
Shen, Wel
Mao, Rong
Palumbos, Janice
Viskochil, David
Gahl, William
Tifft, Cynthia
Macnamara, Ellen
Hauser, Natalie
Miller, Rebecca
Maffeo, Jessica
Afenjar, Alexandra
Doummar, Diane
Keren, Boris
Arn, Pamela
Mackllin-Mantla, Sarah
Meerschaut, Ilse
Callewaert, Bert
Rels, Andre
Zweler, Christiane
Brewer, Carole
Saggar, Anand
Smeland, Marie F.
Kumar, Ajith
Elmslie, Frances
Deshpande
,
Charu
Nizon, Mathilde
Cogne, Benjamin
van Ierland, Yvette
Wilke, Martina
van Slegtenhorst, Marjon
Koudijs, Suzanne
Chen, Jin Yun
Dredge, David
Pler, Danielle
Wortmann, Saskia
Kamsteeg, Erik-Jann
Koch, Johannes
Haynes, Devon
Pollack, Lynda
Titheradge, Hannah
Ranguin, Kara
Denomme-Pichon, Anne-Sophie
Weber, Sacha
de la Fuente, Ruben Perez
del Pozo, Jaime Sanchez
Rosales, Jose Miguel Lezana
Joset, Pascal
Steindl, Katharina
Rauch, Ani
Mei, Davide
Mari, Francesco
Guerrini, Renzo
Lespinasse, James
Mau-Then, Frederic Tran
Philippe, Christophe
Dauriat, Benjamin
Raymond, Laure
Moutton, Sebastien
Cueto-Gonzalez, Anna M.
Tan, Tiong Yang
Mignot, Cyril
Grotto, Sarah
Renaldo, Florence
Drivas, Theodore G.
Hennessy, Laura
Raper, Anna
Parenti, Ilaria
Kaiser, Frank J.
Kuechler, Alma
Busk, Oyvind L.
Islam, Lily
Siedlik, Jacob A.
Henderson, Lindsay B.
Juusola, Jane
Person, Richard
Schnur, Rhonda E.
Vitobello, Antonio
Banka, Siddharth
Bhoj, Elizabeth J.
Stessman, Holly A. F.
DB Label
Database : Science Citation Index Expanded
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Full Text (AAAS)
조회 - Impact Factor (JCR)
등재 - Web of Science
등재 - SCOPUS
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