Zhao, Boxun http://orcid.org/0000-0003-2337-5756
Madden, Jill A.
Lin, Jasmine http://orcid.org/0000-0002-2198-1296
Berry, Gerard T. http://orcid.org/0000-0001-5299-3313
Wojcik, Monica H.
Zhao, Xuefang
Brand, Harrison
Talkowski, Michael http://orcid.org/0000-0003-2889-0992
Lee, Eunjung Alice
Agrawal, Pankaj B. http://orcid.org/0000-0003-3255-0456
Funding for this research was provided by:
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (UM1 HG008900, R01 HG009141)
U.S. Department of Health & Human Services | NIH | National Eye Institute (UM1 HG008900)
U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (UM1 HG008900)
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute
U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54 HD090255)
BCH | Manton Center for Orphan Disease Research, Boston Children's Hospital (Pilot Project Award, Rare Disease Research Fellowship)
BCH | Manton Center for Orphan Disease Research, Boston Children's Hospital
Thrasher Research Fund (Early Career Award)
U.S. Department of Health & Human Services | National Institutes of Health (MH115957, HD081256, DP2 AG0724)
U.S. Department of Health & Human Services | National Institutes of Health
U.S. Department of Health & Human Services | National Institutes of Health
Charles H. Hood Foundation
Paul G. Allen Family Foundation (the Allen Discovery Center program)
The Suh Kyung-bae Science Foundation
Article History
Received: 18 January 2022
Revised: 24 April 2022
Accepted: 14 June 2022
First Online: 30 June 2022
Competing interests
: PBA is on the Scientific Advisory Board of Illumina, Inc. and GeneDx, Inc. Other authors declare no competing interests.
: The proband and her family were enrolled into the Gene Discovery Core at The Manton Center for Orphan Disease Research approved by the IRB (10-02-0053) at Boston Children’s Hospital. Written informed consents were obtained from the patient and family members.