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Authors
Järvelä, Irma http://orcid.org/0000-0002-1770-6187
Määttä, Tuomo
Acharya, Anushree
Leppälä, Juha
Jhangiani, Shalini N.
Arvio, Maria
Siren, Auli
Kankuri-Tammilehto, Minna
Kokkonen, Hannaleena
Palomäki, Maarit
Varilo, Teppo
Fang, Mary
Hadley, Trevor D.
Jolly, Angad
Linnankivi, Tarja
Paetau, Ritva
Saarela, Anni
Kälviäinen, Reetta
Olme, Jan
Nouel-Saied, Liz M.
Cornejo-Sanchez, Diana M.
Llaci, Lorida
Lupski, James R. http://orcid.org/0000-0001-9907-9246
Posey, Jennifer E. http://orcid.org/0000-0003-4814-6765
Leal, Suzanne M. http://orcid.org/0000-0003-1231-8174
Schrauwen, Isabelle http://orcid.org/0000-0001-7310-6082
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Funding
Funding for this research was provided by:
US National Human Genome Research Institute (NHGRI)/National Heart Lung and Blood Institute (UM1 HG006542)
U.S. Department of Health and Human Services (US NHGRI K08 HG008986)
University of Helsinki including Helsinki University Central Hospital
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Article History
Received: 12 December 2020
Accepted: 19 February 2021
First Online: 12 March 2021
Compliance with ethical standards
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: The material is original research and has not been previously published or submitted to any other journal. J.R.L. has stock ownership in 23andMe, is a paid consultant for Regeneron Pharmaceuticals, and is a co-inventor on multiple United States and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, and bacterial genomic fingerprinting. The Department of Molecular and Human Genetics at Baylor College of Medicine receives revenue from clinical genetic testing conducted at Baylor Genetics (BG) Laboratories. Other authors declare no conflict of interest.
: Bioinformatic analyses were done with publicly available software packages as described in the methods. Custom codes to aid in variant filtering are available upon request.
: The parents or legal guardians of all patients and their healthy siblings in this study provided written informed consent to participate in the study. The study was approved by the ethics committees of the Hospital District of Helsinki and Uusimaa (# HUS/2532/2017) and the Institutional Review Boards of Columbia University (IRB-AAAS3433) and Baylor College of Medicine (protocol H-29697).
: The parents or legal guardians of all patients and their healthy siblings in this study provided written consent to publish the results of this study. A separate written informed consent was obtained from the parents or legal guardians to publish the photos of the patients. The study was approved by the ethics committees of the Hospital District of Helsinki and Uusimaa (# HUS/2532/2017) and the Institutional Review Boards of Columbia University (IRB-AAAS3433) and Baylor College of Medicine (protocol H-29697).
: The following databases and web resources were used for this study: CADD, ExternalRef removed, ExternalRef removed, ExternalRef removed Ensembl, ExternalRef removed GATK, ExternalRef removed gnomAD browser, ExternalRef removed MutationTaster, ExternalRef removed OMIM, ExternalRef removed PolyPhen-2, ExternalRef removed SIFT, ExternalRef removed SMART, ExternalRef removed UCSC browser, ExternalRef removed UniProt, ExternalRef removed.
