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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
Bradshaw, Kirsty
Dixit, Abhijit
Eason, Jacqueline
Haines, Rebecca
Harrison, Rachel
Mutch, Stacey
Sarkar, Ajoy
Searle, Claire
Shannon, Nora
Sharif, Abid
Suri, Mohnish
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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
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Poulton, Joanna
Price, Sue
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Quarrell, Oliver
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Saggar, Anand
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Corrin, Sian
Fry, Andrew
Kamath, Arveen
McCann, Emma
Mugalaasi, Hood
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Sampson, Julian
Sansbury, Francis
Varghese, Vinod
Baralle, Diana
Callaway, Alison
Cassidy, Emma J.
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Douglas, Andrew
Foulds, Nicola
Hunt, David
Kharbanda, Mira
Lachlan, Katherine
Mercer, Catherine
Side, Lucy
Temple, I. Karen
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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.
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Botto, Lorenzo
Boyd, Brenna
Briere, Lauren C.
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Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
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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
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Fieg, Elizabeth L.
Findley, Laurie C.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Fresard, Laure
Gahl, William A.
Glass, Ian
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Golden-Grant, Katie
Goldman, Alica M.
Goldstein, David B.
Grajewski, Alana
Groden, Catherine A.
Gropman, Andrea L.
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Hamid, Rizwan
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Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
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Isasi, Rosario
Jamal, Fariha
Jarvik, Gail P.
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Jayadev, Suman
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Karaviti, Lefkothea
Kelley, Emily G.
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Kohane, Isaac S.
Kohler, Jennefer N.
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Krasnewich, Donna M.
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Krier, Joel B.
Lalani, Seema R.
Lam, Byron
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
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LeBlanc, Kimberly
Lee, Brendan H.
Lee, Hane
Levitt, Roy
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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.
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Mak, Bryan
Malicdan, May Christine V.
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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.
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Merritt, J. Lawrence
Might, Matthew
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo M.
Morimoto, Marie
Mulvihill, John J.
Murdock, David R.
Nakano-Okuno, Mariko
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Nelson, Stan F.
Newman, John H.
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Nickerson, Deborah
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Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
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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
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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.
DB Label: Database : ScienceDirect

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

Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis

학술저널

issue: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 41(8):1804-1838
Author: Frede, Natalie^{Aff1, Aff2}
Rojas-Restrepo, Jessica^{Aff1, Aff3}
Caballero Garcia de Oteyza, Andrés^{Aff1, Aff3}
Buchta, Mary
Hübscher, Katrin^{Aff1, Aff3}
Gámez-Díaz, Laura^{Aff1, Aff3}
Proietti, Michele^{Aff1, Aff3}
Saghafi, Shiva
Chavoshzadeh, Zahra
Soler-Palacin, Pere
Galal, Nermeen
Adeli, Mehdi
Aldave-Becerra, Juan Carlos
Al-Ddafari, Moudjahed Saleh
Ardenyz, Ömür
Atkinson, T. Prescott
Kut, Fulya Bektas
Çelmeli, Fatih
Rees, Helen
Kilic, Sara S.
Kirovski, Ilija
Klein, Christoph
Kobbe, Robin
Korganow, Anne-Sophie
Lilic, Desa
Lunt, Peter
Makwana, Niten
Metin, Ayse
Özgür, Tuba Turul
Karakas, Ayse Akman
Seneviratne, Suranjith
Sherkat, Roya
Sousa, Ana Berta
Unal, Ekrem^{Aff30, Aff31}
Patiroglu, Turkan
Wahn, Volker
von Bernuth, Horst^{Aff33, Aff34, Aff35, Aff36}
Whiteford, Margo
Doffinger, Rainer
Jouhadi, Zineb
Grimbacher, Bodo^{Aff1, Aff3, Aff40, Aff41, Aff42, Aff43, IDs10875021010864_cor41}
DB Label: Database : Springer Nature Journals

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

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

학술저널

issue: American Journal of Human Genetics. 94(5)
Author: McMillin, Margaret J
Beck, Anita E
Chong, Jessica X
Shively, Kathryn M
Buckingham, Kati J
Gildersleeve, Heidi IS
Aracena, Mariana I
Aylsworth, Arthur S
Bitoun, Pierre
Carey, John C
Clericuzio, Carol L
Crow, Yanick J
Curry, Cynthia J
Devriendt, Koenraad
Everman, David B
Fryer, Alan
Gibson, Kate
Uzielli, Maria Luisa Giovannucci
Graham, John M
Hall, Judith G
Hecht, Jacqueline T
Heidenreich, Randall A
Hurst, Jane A
Irani, Sarosh
Krapels, Ingrid PC
Leroy, Jules G
Mowat, David
Plant, Gordon T
Robertson, Stephen P
Schorry, Elizabeth K
Scott, Richard H
Seaver, Laurie H
Sherr, Elliott
Splitt, Miranda
Stewart, Helen
Stumpel, Constance
Temel, Sehime G
Weaver, David D
Whiteford, Margo
Williams, Marc S
Tabor, Holly K
Smith, Joshua D
Shendure, Jay
Nickerson, Deborah A
Genomics, University of Washington Center for Mendelian
Bamshad, Michael J
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Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

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issue: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(9):2081-2091
Author: Ghali, Neeti^Aff1
Baker, Duncan
Brady, Angela F.
Burrows, Nigel
Cervi, Elena
Cilliers, Deirdre
Frank, Michael
Germain, Dominique P.
Hulmes, David J. S.
Jacquemont, Marie-line
Kannu, Peter
Lefroy, Henrietta
Legrand, Anne
Pope, F. Michael
Robertson, Lisa
Vandersteen, Anthony
von Klemperer, Kate
Warburton, Renarta
Whiteford, Margo
van Dijk, Fleur S.
DB Label: Database : Springer Nature Journals

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The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

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issue: Orphanet Journal of Rare Diseases. 8(1)
Author: Nikkel, Sarah M
Dauber, Andrew
de Munnik, Sonja
Connolly, Meghan
Hood, Rebecca L
Caluseriu, Oana
Hurst, Jane
Kini, Usha
Nowaczyk, Malgorzata J M
Afenjar, Alexandra
Albrecht, Beate
Allanson, Judith E
Balestri, Paolo
Ben-Omran, Tawfeg
Brancati, Francesco
Cordeiro, Isabel
da Cunha, Bruna Santos
Delaney, Louisa A
Destrée, Anne
Fitzpatrick, David
Forzano, Francesca
Ghali, Neeti
Gillies, Greta
Harwood, Katerina
Hendriks, Yvonne M C
Héron, Delphine
Hoischen, Alexander
Honey, Engela Magdalena
Hoefsloot, Lies H
Ibrahim, Jennifer
Jacob, Claire M
Kant, Sarina G
Kim, Chong Ae
Kirk, Edwin P
Knoers, Nine V A M
Lacombe, Didier
Lee, Chung
Lo, Ivan F M
Lucas, Luiza S
Mari, Francesca
Mericq, Veronica
Moilanen, Jukka S
Møller, Sanne Traasdahl
Moortgat, Stephanie
Pilz, Daniela T
Pope, Kate
Price, Susan
Renieri, Alessandra
Sá, Joaquim
Schoots, Jeroen
Silveira, Elizabeth L
Simon, Marleen E H
Slavotinek, Anne
Temple, I Karen
van der Burgt, Ineke
de Vries, Bert B A
Weisfeld-Adams, James D
Whiteford, Margo L
Wierczorek, Dagmar
Wit, Jan M
Yee, Connie Fung On
Beaulieu, Chandree L
cpgdsconsortium@cheo.on.ca
White, Sue M
Bulman, Dennis E
Bongers, Ernie
Brunner, Han
Feingold, Murray
Boycott, Kym M
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Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

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issue: European Journal of Human Genetics. 26(2):210-219
Author: Kievit, Anneke^Aff1
Tessadori, Federico^{Aff2, Aff3}
Douben, Hannie
Jordens, Ingrid
Maurice, Madelon
Hoogeboom, Jeannette
Hennekam, Raoul
Nampoothiri, Sheela
Kayserili, Hülya
Castori, Marco
Whiteford, Margo
Motter, Connie
Melver, Catherine
Cunningham, Michael
Hing, Anne
Kokitsu-Nakata, Nancy M.
Vendramini-Pittoli, Siulan
Richieri-Costa, Antonio
Baas, Annette F.
Breugem, Corstiaan C.
Duran, Karen
Massink, Maarten
Derksen, Patrick W. B.
van IJcken, Wilfred F. J.
van Unen, Leontine
Santos-Simarro, Fernando
Lapunzina, Pablo
Gil-da Silva Lopes, Vera L.
Lustosa-Mendes, Elaine
Krall, Max
Slavotinek, Anne
Martinez-Glez, Victor
Bakkers, Jeroen^{Aff3, Aff18}
van Gassen, Koen L. I.
de Klein, Annelies
van den Boogaard, Marie-José H.
van Haaften, Gijs^Aff2
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Preimplantation genetic diagnosis

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issue: In Obstetrics, Gynaecology & Reproductive Medicine March 2014 24(3):67-73
Author: Wu, Pensée
Whiteford, Margo L.
Cameron, Alan D.
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Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

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issue: Journal of Medical Genetics. Dec 01, 2017 54(12):830-835
Author: Bruel, Ange-Line
Bigoni, Stefania
Kennedy, Joanna
Whiteford, Margo
Buxton, Chris
Parmeggiani, Giulia
Wherlock, Matt
Woodward, Geoff
Greenslade, Mark
Williams, Maggie
St-Onge, Judith
Ferlini, Alessandra
Garani, Giampaolo
Ballardini, Elisa
van Bon, Bregje W
Acuna-Hidalgo, Rocio
Bohring, Axel
Deleuze, Jean-François
Boland, Anne
Meyer, Vincent
Olaso, Robert
Ginglinger, Emmanuelle
Study, DDD
Rivière, Jean-Baptiste
Brunner, Han G
Hoischen, Alexander
Newbury-Ecob, Ruth
Faivre, Laurence
Thauvin-Robinet, Christel
Thevenon, Julien
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Occurrence of nasal dermoid cysts in a family with a single maxillary median central incisor: extending the clinical spectrum

학술저널

issue: Clinical Dysmorphology. Oct 01, 2017 26(4):238-242
Author: Gazdagh, Gabriella E.
Sangra, Meharpal
Butler, Sandra
Whiteford, Margo L.
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