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Authors
Du, Haowei
Jolly, Angad
Grochowski, Christopher M.
Yuan, Bo
Dawood, Moez
Jhangiani, Shalini N.
Li, He
Muzny, Donna
Fatih, Jawid M.
Coban-Akdemir, Zeynep
Carlin, Mary Esther
Scheuerle, Angela E.
Witzl, Karin
Posey, Jennifer E.
Pendleton, Matthew
Harrington, Eoghan
Juul, Sissel
Hastings, P. J.
Bi, Weimin
Gibbs, Richard A.
Sedlazeck, Fritz J.
Lupski, James R.
Carvalho, Claudia M. B.
Liu, Pengfei http://orcid.org/0000-0002-4177-709X
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Funding
Funding for this research was provided by:
National Heart, Lung, and Blood Institute (UM1 HG006542)
National Human Genome Research Institute (UM1 HG008898, U01 HG011758, K08 HG008986, R35HG011311)
National Institute of General Medical Sciences (R01 GM132589, R01 GM106373)
National Institute of Neurological Disorders and Stroke (R35 NS105078)
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Article History
Received: 4 March 2022
Accepted: 10 October 2022
First Online: 27 October 2022
Declarations
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: Written informed consent was obtained from the families of BAB9637, BAB3097, and BAB9484 in the research study. This study was approved by the Institutional Review Board (IRB) at Baylor College of Medicine (protocols H-29697 and H-42680). A waiver of consent was approved by the study for investigation of the other families included in this study because the analysis and publication of the human subject genomics data have been de-identified and present minimal risks to the study subjects. The research activities in this study conformed to the principles of the Helsinki Declaration.
: Written consent was obtained to publish detailed clinical information for the families of BAB9637, BAB3097, and BAB9484. A waiver of consent was approved by the study IRB to publish a de-identified synopsis of the clinical summary of the other families using HPO terms.
: Baylor College of Medicine (BCM) and Miraca Holdings have formed a joint venture with shared ownership and governance of Baylor Genetics (BG), which performs clinical chromosome microarray analysis (CMA) and other genomic studies (ES, genome sequencing) for patient/family care. J.R.L. serves on the Scientific Advisory Board of BG. J.R.L. has stock ownership in 23andMe, is a paid consultant for the Regeneron Genetics Center, and is a co-inventor on multiple United States and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, genomic disorders, and bacterial genomic fingerprinting. PL and WB are employees of BCM and derive support through a professional service agreement with BG. MP, EH, and SJ are employees of Oxford Nanopore Technologies and are shareholders and/or share option holders. FJS has multiple travels sponsored by Pacbio and ONT. The remaining authors declare that they have no competing interests.
