Document is current
Any future updates will be listed below
-
Authors
Pehlivan, Davut https://orcid.org/0000-0001-5788-0270
Bengtsson, Jesse D.
Bajikar, Sameer S. https://orcid.org/0000-0002-8868-881X
Grochowski, Christopher M.
Lun, Ming Yin
Gandhi, Mira
Jolly, Angad
Trostle, Alexander J.
Harris, Holly K.
Suter, Bernhard
Aras, Sukru
Ramocki, Melissa B.
Du, Haowei
Mehaffey, Michele G.
Park, KyungHee
Wilkey, Ellen
Karakas, Cemal
Eisfeldt, Jesper J.
Pettersson, Maria
Liu, Lynn
Shinawi, Marwan S.
Kimonis, Virginia E.
Wiszniewski, Wojciech
Mckenzie, Kyle
Roser, Timo
Vianna-Morgante, Angela M.
Cornier, Alberto S.
Abdelmoity, Ahmed
Hwang, James P.
Jhangiani, Shalini N.
Muzny, Donna M.
Mitani, Tadahiro
Muramatsu, Kazuhiro
Nabatame, Shin
Glaze, Daniel G.
Fatih, Jawid M.
Gibbs, Richard A.
Liu, Zhandong
Lindstrand, Anna
Sedlazeck, Fritz J.
Lupski, James R. https://orcid.org/0000-0001-9907-9246
Zoghbi, Huda Y. https://orcid.org/0000-0002-0700-3349
Carvalho, Claudia M. B. https://orcid.org/0000-0002-2090-298X
- License Information
-
More Information
Article History
Received: 6 February 2024
Accepted: 8 November 2024
First Online: 18 December 2024
Change Date: 25 May 2025
Change Type: Update
Change Details: "17 April 2025: This article was originally published with the incorrect license 'CC-BY-NC-ND'; it should have been 'CC-BY'. The article has been updated to rectify the error."
Declarations
:
: This study is approved by Baylor College of Medicine (BCM) and Pacific Northwest Research Institute (PNRI). For patients who were evaluated at TCH-BBC Rett Center, clinical information was obtained by retrospective chart review using H-46044 protocol approved by Baylor College of Medicine’s (BCM) Institutional Review Board (IRB). We used BCM IRB approved H-32407 and H-47281/PNRI WIRB #20202158 protocols to clinically examine patients on a research basis.For genomic studies, participants were consented according to the IRB at BCM approved protocols: H-29697, H-20268, H-18122, and H-26667 or H-47281/Pacific Northwest Research Institute WIRB #20202158. The research was conducted in compliance with the principles of Helsinki Declaration.
: All subjects gave consent for participation into our study and publication of genomic and clinical information.
: BCM and Miraca Holdings have formed a joint venture with shared ownership and governance of BG, which performs clinical microarray analysis (CMA), clinical ES (cES), and clinical biochemical studies. J.R.L. serves on the Scientific Advisory Board of the BG. J.R.L. has stock ownership in 23andMe, is a paid consultant for Genomics International, and is a coinventor on multiple United States and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, genomic disorders and bacterial genomic fingerprinting. D.P. and M.B.R. provide consulting service for Ionis Pharmaceuticals. The remaining authors declare that they have no competing interests.
