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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
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Greenhalgh, Lynn
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Stinton, Victoria
Swale, Andrew
Weber, Astrid
Banka, Siddharth
Breen, Catherine
Briggs, Tracy
Burkitt-Wright, Emma
Chandler, Kate
Clayton-Smith, Jill
Donnai, Dian
Douzgou, Sofia
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Kerr, Bronwyn
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Metcalfe, Kay
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Bourn, David
Burn, John
Fisher, Richard
Hellens, Steve
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Zwolinski, Simon
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Brooks, Claire
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Clowes, Virginia
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Ibitoye, Rita
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Gibbons, Richard
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Halai, D.
Hamblin, A.
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Ibáñez, K.
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Dayal, Jyoti G.
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Hom, Jason
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Lam, Byron
Lam, Christina
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LeBlanc, Kimberly
Lee, Brendan H.
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Liu, Xue Zhong
Longo, Nicola
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Loscalzo, Joseph
Maas, Richard L.
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MacRae, Calum A.
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Mak, Bryan
Malicdan, May Christine V.
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Papp, Jeanette C.
Parker, Neil H.
Phillips, John A.
Posey, Jennifer E.
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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.
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Scott, C. Ron
Schaechter, Judy
Schedl, Timothy
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Sillari, Catherine H.
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Lakhani, Saquib A.
DB Label: Database : ScienceDirect

원문보기: 등재 - SCOPUS 조회 - Impact Factor (JCR) 등재 - Web of Science (SCIE)

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

학술저널

issue: In The Lancet Neurology March 2022 21(3):234-245
Author: McDonagh, Ellen M
Rueda, Antonio
Polychronopoulos, Dimitris
Chan, Georgia
Angus-Leppan, Heather
Bhatia, Kailash P
Davison, James E
Festenstein, Richard
Fratta, Pietro
Giunti, Paola
Howard, Robin
Venkata, Laxmi
Laurá, Matilde
McEntagart, Meriel
Menzies, Lara
Morris, Huw
Reilly, Mary M
Robinson, Robert
Rosser, Elisabeth
Faravelli, Francesca
Schrag, Anette
Schott, Jonathan M
Warner, Thomas T
Wood, Nicholas W
Bourn, David
Eggleton, Kelly
Labrum, Robyn
Twiss, Philip
Abbs, Stephen
Santos, Liana
Almheiri, Ghareesa
Sheikh, Isabella
Vandrovcova, Jana
Patch, Christine
Taylor Tavares, Ana Lisa
Hyder, Zerin
Need, Anna
Brittain, Helen
Baple, Emma
Moutsianas, Loukas
Deshpande, Viraj
Perry, Denise L
Ajay, Subramanian S.
Chawla, Aditi
Rajan, Vani
Oprych, Kathryn
Chinnery, Patrick F
Douglas, Angela
Wilson, Gill
Ellard, Sian
Temple, I Karen
Mumford, Andrew
McMullan, Dom
Naresh, Kikkeri
Flinter, Frances A
Taylor, Jenny C
Greenhalgh, Lynn
Newman, William
Brennan, Paul
Sayer, John A
Raymond, F Lucy
Chitty, Lyn S
Ambrose, John C.
Arumugam, Prabhu
Bleda, Marta
Boardman-Pretty, Freya
Boissiere, Jeanne M.
Boustred, Christopher R.
Craig, Clare E.H.
de Burca, Anna
Devereau, Andrew
Elgar, Greg
Foulger, Rebecca E.
Furió-Tarí, Pedro
Hackett, Joanne
Halai, Dina
Hamblin, Angela
Henderson, Shirley
Holman, James
Hubbard, Tim J.P.
Jackson, Rob
Jones, Louise J.
Kayikci, Melis
Lahnstein, Lea
Lawson, Kay
Leigh, Sarah E.A.
Leong, Ivonne U.S.
Lopez, Javier F.
Maleady-Crowe, Fiona
Mason, Joanne
Mueller, Michael
Murugaesu, Nirupa
Odhams, Chris A.
Perez-Gil, Daniel
Pullinger, John
Rahim, Tahrima
Riesgo-Ferreiro, Pablo
Rogers, Tim
Ryten, Mina
Savage, Kevin
Sawant, Kushmita
Siddiq, Afshan
Sieghart, Alexander
Smedley, Damian
Sosinsky, Alona
Spooner, William
Stevens, Helen E.
Stuckey, Alexander
Sultana, Razvan
Thompson, Simon R.
Tregidgo, Carolyn
Walsh, Emma
Watters, Sarah A.
Welland, Matthew J.
Williams, Eleanor
Witkowska, Katarzyna
Wood, Suzanne M.
Zarowiecki, Magdalena
Ibañez, Kristina
Polke, James ^*
Hagelstrom, R Tanner ^*
Dolzhenko, Egor
Pasko, Dorota
Thomas, Ellen Rachel Amy
Daugherty, Louise C
Kasperaviciute, Dalia
Smith, Katherine R
Deans, Zandra C
Hill, Sue
Fowler, Tom
Scott, Richard H
Hardy, John
Houlden, Henry
Rendon, Augusto
Caulfield, Mark J
Eberle, Michael A
Taft, Ryan J ^**
Tucci, Arianna ^*
DB Label: Database : ScienceDirect

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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: Database : eScholarship

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Meaningful and Measurable Health Domains in Huntington’s Disease: Large-Scale Validation of the Huntington’s Disease Health-Related Quality of Life Questionnaire Across Severity Stages

학술저널

issue: In Value in Health June 2019 22(6):712-720
Author: Downie, Lorna
Jack, Roisin
Matheson, Kirsty
Miedzybrodzka, Zosia
Rae, Daniela
Simpson, Sheila A.
Summers, Fiona
Ure, Alexandra
Vaughan, Vivien
Akhtar, Shahbana
Crooks, Jenny
Curtis, Adrienne
de Souza (Keylock), Jenny
Piedad, John
Rickards, Hugh
Wright, Jan
Coulthard, Elizabeth
Gethin, Louise
Hayward, Beverley
Sieradzan, Kasia
Wright, Abigail
Barker, Roger A.
O’Keefe, Deidre
Gerrtiz (nee Di Pietro), Anna
Fisher, Kate
Goodman, Anna
Hill, Susan
Mason, Sarah
Swain, Rachel
Guzman, Natalie Valle
Busse, Monica
Butcher, Cynthia
Callaghan, Jenny
Dunnett, Stephen
Clenaghan, Catherine
Fullam, Ruth
Hunt, Sarah
Jones, Lesley
Jones, Una
Khalil, Hanan
Minster, Sara
Owen, Michael
Price, Kathleen
Townhill, Jenny
Rosser, Anne
Goudie, David
Buchanan, Lindsay
McFadyen, Paula
Tonner, Alison
Taylor, Anne-Marie
Edwards, Maureen
Ho, Carrie
McGill, Marie
Porteous, Mary
Pearson, Pauline
Harrower, Timothy
Irvine, Sarah
Brockie, Peter
Foster, Jillian
Johns, Nicola
McKenzie, Sue
Rothery, Jean
Thomas, Gareth
Yates, Shona
Deith, Catherine
Ireland, Jane
Ritchie, Stuart
Brown, Pauline
Burrows, Liz
Fletcher, Amy
Harding, Alison
Harrison, Kaye
Laver, Fiona
Silva, Mark
Thomson, Aileen
Chu, Carol
Evans, Carole
Gallentree, Deena
Hamer, Stephanie
Kraus, Alison
Markova, Ivana
Raman, Ashok
Rowett, Liz
Andrew, Alyson
Frost, Julie
Noad, Rupert
Cosgrove, Jeremy
Gallantree, Deena
Hobson, Emma
Jamieson, Stuart
Longthorpe, Mandy
Musgrave, Hannah
Peacy, Caroline
Toscano, Jean
Wild, Sue
Yardumian, Pam
Clayton, Carole
Dipple, Heather
Freire-Patino, Dawn
Hallam, Caroline
Middleton, Julia
Alusi, Sundus
Davies, Rhys
Foy, Kevin
Gerrans, Emily
Pate, Louise
Anjum, Uruj
Coebergh, Jan
Eddy, Charlotte
Lahiri, Nayana
McEntagart, Meriel
Patton, Michael
Peterson, Maria
Rose, Sarah
Andrews, Thomasin
Dougherty, Andrew
Golding, Charlotte
Kavalier, Fred
Laing, Hana
Lashwood, Alison
Robertson, Dene
Ruddy, Deborah
Santhouse, Alastair
Whaite, Anna
Gosling (nee Brown), Stefanie
Bruno, Stefania
Chu, Elvina
Doherty, Karen
Haider, Salman
Hensman, Davina
Lewis, Monica
Novak, Marianne
Patel, Aakta
Robertson, Nicola
Rosser, Elisabeth
Tabrizi, Sarah
Taylor, Rachel
Warner, Thomas
Wild, Edward
Arran, Natalie
Bek, Judith
Craufurd, David
Hare, Marianne
Howard, Liz
Huson, Susan
Johnson, Liz
Jones, Mary
Krishnamoorthy, Ashok
Murphy, Helen
Oughton, Emma
Partington-Jones, Lucy
Rogers, Dawn
Sollom, Andrea
Snowden, Julie
Stopford, Cheryl
Thompson, Jennifer
Trender-Gerhard, Iris
Verstraelen (formerly Ritchie), Nichola
Westmoreland, Leann
Cass, Ginette
Davidson, Lynn
Davison, Jill
Fullerton, Neil
Holmes, Katrina
Komati, Suresh
McDonnell, Sharon
Mohammed, Zeid
Morgan, Karen
Savage, Lois
Singh, Baldev
Wood, Josh
Nemeth, Andrea H.
Siuda, Gill
Valentine, Ruth
Dixon, Kathryn
Armstrong, Richard
Burn, John
Weekes, Rebecca
Craven, Janet
Bailey, Wendy
Coleman, Caroline
Haig-Brown, Diane
Simpson, Steve
Majeed, Tahir
Verstraelen (Ritchie), Nicola
Barrett, Wendy
Ho, Aileen
Bandmann, Oliver
Bradbury, Alyson
Fairtlough, Helen
Fillingham, Kay
Foustanos, Isabella
Gill, Paul
Kazoka, Mbombe
O’Donovan, Kirsty
Nevitt, Louise
Peppa, Nadia
Quarrell, Oliver
Taylor, Cat
Tidswell, Katherine
Kipps, Christopher
MacKinnon, Lesley
Agarwal, Veena
Hayward, Elaine
Gunner, Kerry
Harris, Kayla
Anderson, Mary
Heywood, Melanie
Keys, Liane
Smalley, Sarah
El-Nimr, George
Duffell, Allison
Wood, Sue
Kennedy (nee Smith), Karen
Gowers, Lesley
Powell, Kingsley
Bethwaite, Pamela
Edwards, Rachel
Fuller, Kathleen
Phillips, Michelle
Bucher, Walter
de Schepper, Beatrice
Eden, John
Hendrikx, Victor
Hughes, Alis
King, Diana
Kleibrink, Ursula
Kuttruff-Wilschut, Rita
Lenon-Bird, Anne
Lohkamp, Christiane
Perrousseaux, Marie-Odile
Martinez, Asuncion
Rapaille, Lilliane
Santini, Helen
Sasinkova, Pavla
Soltysiak, Beverley
Smith, Steve
van der Leer, Hans
van der Meer, Lucienne
Wooldridge, Michael
Zinzi, Paola
Ho, Aileen K.
Horton, Mike C.
Landwehrmeyer, G. Bernhard
Burgunder, Jean-Marc
Tennant, Alan
DB Label: Database : ScienceDirect

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Contribution of retrotransposition to developmental disorders

학술저널

issue: Nature Communications. 10(1)
Author: Gardner, Eugene J.
Prigmore, Elena
Gallone, Giuseppe
Danecek, Petr
Samocha, Kaitlin E.
Handsaker, Juliet
Gerety, Sebastian S.
Ironfield, Holly
Short, Patrick J.
Sifrim, Alejandro
Singh, Tarjinder
Chandler, Kate E.
Clement, Emma
Lachlan, Katherine L.^{Aff5, Aff6}
Prescott, Katrina
Rosser, Elisabeth
FitzPatrick, David R.
Firth, Helen V.^{Aff1, Aff9}
Hurles, Matthew E.^Aff1
DB Label: Database : Springer Nature Journals

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Genotypes at the GluR6 Kainate Receptor Locus are Associated with Variation in the Age of Onset of Huntington Disease

학술저널

issue: Proceedings of the National Academy of Sciences of the United States of America, 1997 Apr . 94(8), 3872-3876.
Author: Rubinsztein, David C.
Leggo, Jayne
Chiano, Mathias
Dodge, Alan
Norbury, Gail
Rosser, Elisabeth
Craufurd, David
DB Label: Database : JSTOR Journals