Data

Additional file 2 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

The University of Western Australia
Mannucci, Ilaria ; Dang, Nghi D. P. ; Huber, Hannes ; Murry, Jaclyn B. ; Abramson, Jeff ; Althoff, Thorsten ; Banka, Siddharth ; Baynam, Gareth ; Bearden, David ; Beleza-Meireles, Ana ; Benke, Paul J. ; Berland, Siren ; Bierhals, Tatjana ; Bilan, Frederic ; Bindoff, Laurence A. ; Braathen, Geir Julius ; Busk, Øyvind L. ; Chenbhanich, Jirat ; Denecke, Jonas ; Escobar, Luis F. ; Estes, Caroline ; Fleischer, Julie ; Groepper, Daniel ; Haaxma, Charlotte A. ; Hempel, Maja ; Holler-Managan, Yolanda ; Houge, Gunnar ; Jackson, Adam ; Kellogg, Laura ; Keren, Boris ; Kiraly-Borri, Catherine ; Kraus, Cornelia ; Kubisch, Christian ; Le Guyader, Gwenael ; Ljungblad, Ulf W. ; Brenman, Leslie Manace ; Martinez-Agosto, Julian A. ; Might, Matthew ; Miller, David T. ; Minks, Kelly Q. ; Moghaddam, Billur ; Nava, Caroline ; Nelson, Stanley F. ; Parant, John M. ; Prescott, Trine ; Rajabi, Farrah ; Randrianaivo, Hanitra ; Reiter, Simone F. ; Schuurs-Hoeijmakers, Janneke ; Shieh, Perry B. ; Slavotinek, Anne ; Smithson, Sarah ; Stegmann, Alexander P. A. ; Tomczak, Kinga ; Tveten, Kristian ; Wang, Jun ; Whitlock, Jordan H. ; Zweier, Christiane ; McWalter, Kirsty ; Juusola, Jane ; Quintero-Rivera, Fabiola ; Fischer, Utz ; Yeo, Nan Cher ; Kreienkamp, Hans-Jürgen ; Lessel, Davor
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Additional file 2: Table S1. Summary on clinical features of individuals bearing pathogenic DHX30 variants.

Notes

External Organisations
University Medical Center Hamburg-Eppendorf; University of Alabama at Birmingham; Würzburg ENT University Hospital; University of California Berkeley; Manchester University NHS Foundation Trust; King Edward Memorial Hospital (India); University of Rochester Medical Center, Rochester, NY 14642, United States.; University Hospitals Bristol and Weston NHS Foundation Trust; Haukeland University Hospital; Telemark Hospital Trust; Ascension Health; Radboud University Nijmegen; Northwestern Polytechnical University (Xi’a); Manchester University; Assistance publique – Hôpitaux de Paris; Friedrich-Alexander University Erlangen-Nürnberg; Kaiser Permanente; Boston Children's Hospital; Joe DiMaggio Children’s Hospital; Université de Poitiers; Southern Illinois University; Sykehuset i Vestfold; Centre Hospitalier Universitaire de La Réunion; OPKO Health Inc
Associated Persons
Ilaria Mannucci (Creator); Nghi D. P. Dang (Creator); Hannes Huber (Creator); Jaclyn B. Murry (Creator); Jeff Abramson (Creator); Thorsten Althoff (Creator); Siddharth Banka (Creator); David Bearden (Creator); Ana Beleza-Meireles (Creator); Paul J. Benke (Creator); Siren Berland (Creator); Tatjana Bierhals (Creator); Frederic Bilan (Creator); Laurence A. Bindoff (Creator); Geir Julius Braathen (Creator); Øyvind L. Busk (Creator); Jirat Chenbhanich (Creator); Jonas Denecke (Creator); Luis F. Escobar (Creator); Caroline Estes (Creator); Julie Fleischer (Creator); Daniel Groepper (Creator); Charlotte A. Haaxma (Creator); Maja Hempel (Creator); Yolanda Holler-Managan (Creator); Gunnar Houge (Creator); Adam Jackson (Creator); Laura Kellogg (Creator); Boris Keren (Creator); Catherine Kiraly-Borri (Creator); Cornelia Kraus (Creator); Christian Kubisch (Creator); Gwenael Le Guyader (Creator); Ulf W. Ljungblad (Creator); Leslie Manace Brenman (Creator); Julian A. Martinez-Agosto (Creator); Matthew Might (Creator); David T. Miller (Creator); Kelly Q. Minks (Creator); Billur Moghaddam (Creator); Caroline Nava (Creator); Stanley F. Nelson (Creator); John M. Parant (Creator); Trine Prescott (Creator); Farrah Rajabi (Creator); Hanitra Randrianaivo (Creator); Simone F. Reiter (Creator); Janneke Schuurs-Hoeijmakers (Creator); Perry B. Shieh (Creator); Anne Slavotinek (Creator); Sarah Smithson (Creator); Alexander P. A. Stegmann (Creator); Kinga Tomczak (Creator); Kristian Tveten (Creator); Jun Wang (Creator); Jordan H. Whitlock (Creator); Christiane Zweier (Creator); Kirsty McWalter (Creator); Jane Juusola (Creator); Fabiola Quintero-Rivera (Creator); Utz Fischer (Creator); Nan Cher Yeo (Creator); Hans-Jürgen Kreienkamp (Creator); Davor Lessel (Creator)

Issued: 2021-05-22

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FOS: Biological sciences | Genetics |

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