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Fielder, Sara M https://orcid.org/0000-0001-6008-4689

Friederich, Marisa W

Hock, Daniella H

Zhang, Jessie R

Valin, Liana M

Rosenfeld, Jill A

Booth, Kevin T A https://orcid.org/0000-0003-3061-3652

Brown, Natasha J

Rius, Rocio https://orcid.org/0000-0002-9871-3126

Sharma, Tanavi

Semcesen, Liana N

Worley, Kim C https://orcid.org/0000-0002-0282-1000

Burrage, Lindsay C

Treat, Kayla

Samson, Tara

Govert, Sarah

DaCunha, Sara

Yuan, Weimin https://orcid.org/0009-0009-1447-1982

Chen, Jian

Lesinski, Jacob

Hoang, Hieu

Morrison, Stephanie A

Ladha, Farah A https://orcid.org/0009-0002-5653-0249

Van Hove, Roxanne A

Michel, Cole R

Reisdorph, Richard

Tycksen, Eric https://orcid.org/0000-0001-6362-0141

Baldridge, Dustin

Silverman, Gary A

Soler-Alfonso, Claudia

Conboy, Erin

Vetrini, Francesco

Emrick, Lisa

Craigen, William J

,

Sykes, Stephen M https://orcid.org/0000-0002-7330-0106

Stroud, David A https://orcid.org/0000-0002-2048-3383

Van Hove, Johan L K https://orcid.org/0000-0003-2850-3294

Schedl, Tim https://orcid.org/0000-0003-2148-2996

Pak, Stephen C https://orcid.org/0000-0002-8089-3237

Funding for this research was provided by:

Center for Rare and Undiagnosed Genetic Diseases

HHS | National Institutes of Health (U54NS108251, U54NS078059)

Australian National Medical Research Council (2009732)

Medical Research Future Fund Genomics Health Futures Mission (2016030)

National Health and Medical Research Council investigator grant (2009982, 2009982)

HHS | NIH | National Human Genome Research Institute (U01HG007709, U01HG007942)

HHS | NIH | National Institute of General Medical Sciences (GM100756)

HHS | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50 HD103555)

Office of Rare Diseases Research (ORDR), NCATS

NIH/NCCR (S10 OD028538-01A1)

Royal Children's Hospital Foundation (2019-1198 and 2023-1484)

The Andrew and Geraldine Buxton Foundation

The Pierce Armstrong Foundation

Victorian Government's Operational Infrastructure Support Program

Mito Foundation

Clinical Translational Core (CTC) of Baylor College of Medicine

Murdoch Children's Research Institute

Paula Fox

Text and Data Mining valid from 2025-08-26

Version of Record valid from 2025-08-26