Document is current
Any future updates will be listed below
-
Authors
Peron, Angela https://orcid.org/0000-0002-1769-6548
D’Arco, Felice
Aldinger, Kimberly A. https://orcid.org/0000-0002-5406-8911
Smith-Hicks, Constance
Zweier, Christiane https://orcid.org/0000-0001-8002-2020
Gradek, Gyri A.
Bradbury, Kimberley
Accogli, Andrea
Andersen, Erica F. https://orcid.org/0000-0002-7205-0600
Au, Ping Yee Billie
Battini, Roberta
Beleford, Daniah
Bird, Lynne M. https://orcid.org/0000-0003-4833-3747
Bouman, Arjan
Bruel, Ange-Line https://orcid.org/0000-0002-0526-465X
Busk, Øyvind Løvold
Campeau, Philippe M. https://orcid.org/0000-0001-9713-7107
Capra, Valeria https://orcid.org/0000-0002-3097-0388
Carlston, Colleen
Carmichael, Jenny
Chassevent, Anna
Clayton-Smith, Jill
Bamshad, Michael J.
Earl, Dawn L.
Faivre, Laurence https://orcid.org/0000-0001-9770-444X
Philippe, Christophe https://orcid.org/0000-0001-7098-6520
Ferreira, Patrick
Graul-Neumann, Luitgard
Green, Mary J.
Haffner, Darrah
Haldipur, Parthiv
Hanna, Suhair
Houge, Gunnar
Jones, Wendy D. https://orcid.org/0000-0003-4017-3806
Kraus, Cornelia
Kristiansen, Birgit Elisabeth
Lespinasse, James
Low, Karen J.
Lynch, Sally Ann https://orcid.org/0000-0003-3540-1333
Maia, Sofia
Mao, Rong
Kalinauskiene, Ruta
Melver, Catherine
McDonald, Kimberly
Montgomery, Tara
Morleo, Manuela
Motter, Constance
Openshaw, Amanda S.
Palumbos, Janice Cox
Parikh, Aditi Shah
Perilla-Young, Yezmin
Powell, Cynthia M.
Person, Richard
Desai, Megha
Piard, Juliette https://orcid.org/0000-0001-5244-5325
Pfundt, Rolph
Scala, Marcello https://orcid.org/0000-0003-2194-7239
Serey-Gaut, Margaux
Shears, Deborah
Slavotinek, Anne
Suri, Mohnish
Turner, Claire
Tvrdik, Tatiana
Weiss, Karin https://orcid.org/0000-0003-0998-810X
Wentzensen, Ingrid M.
Zollino, Marcella https://orcid.org/0000-0003-4871-9519
Hsieh, Tzung-Chien https://orcid.org/0000-0003-3828-4419
,
Ramsey, Keri
,
Peron, Angela
Accogli, Andrea
Capra, Valeria
Morleo, Manuela
Scala, Marcello
Zollino, Marcella
,
de Vries, Bert B. A. https://orcid.org/0000-0002-0000-2917
Guillemot, Francois
Dobyns, William B. https://orcid.org/0000-0002-7681-2844
Viskochil, David
Dias, Cristina https://orcid.org/0000-0001-5411-4984
- License Information
-
More Information
Article History
Received: 24 January 2024
Revised: 27 April 2024
Accepted: 23 September 2024
First Online: 24 October 2024
Competing interests
: RP, MD and IMW are employees of GeneDx, Inc. a fee-for-service testing laboratory. MJB is Chair of the Scientific Advisory Board of GeneDx. The other authors declare no competing interests.
: The case series was recorded under clinical audit #12785 at Guy’s & St. Thomas’ NHS Foundation Trust. Written informed consent from patient or legal guardian were obtained from the research studies under protocols approved by the following research ethics committees / institutional review boards: Deciphering Developmental Disorders Study: Cambridge South REC reference 10/H0305/83, and Republic of Ireland REC GEN/284/12; The 100,000 Genomes Project: Cambridge South REC 14/EE/1112. The BUILD Study: London - Camden & Kings Cross REC 17/LO/0981. Seattle Children’s Hospital IRB study #13291. IRB Commissie Mensgebonden Onderzoek Regio Arnhem-Nijmegen, CMO approval #NL36191.091.11. Translational Genomics Research Institute: WCG IRB Protocol #20120789. Ethical review board of Friedrich-Alexander-University, Erlangen-Nürnberg, Germany. Rambam Medical Center IRB #0038-14-RBM; Ethics committee of Federico II University Hospital, protocol number 48/16; Johns Hopkins Medicine IRB protocol IRB00214093. For clinically ascertained individuals where IRB waiver is required (Alberta Children’s Hospital REB, Comissão de Ética Hospital Pediátrico Centro Hospitalar Universidade de Coimbra), waiver was confirmed; informed patient/guardian consent was given for publication of de-identified data, including photographs where applicable, and the appropriate institutional forms have been archived in accordance with the principles stated in the Declaration of Helsinki. Only photographs where consent forms are consistent with Springer Nature editorial policies are included in the manuscript.
