R21 HD099701/HD/NICHD NIH HHS/United States[Grants and Funding] - Search Results

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Year	Number of Results
2020	2
2021	2
2025	0

Page 1

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.

Reis LM, Costakos D, Wheeler PG, Bardakjian T, Schneider A, Fung SSM; University of Washington Center for Mendelian Genomics; Semina EV. Reis LM, et al. Clin Genet. 2021 Mar;99(3):437-442. doi: 10.1111/cge.13897. Epub 2020 Dec 16. Clin Genet. 2021. PMID: 33314030 Free PMC article.

Compound heterozygous splicing CDON variants result in isolated ocular coloboma.

Reis LM, Basel D, McCarrier J, Weinberg DV, Semina EV. Reis LM, et al. Clin Genet. 2020 Nov;98(5):486-492. doi: 10.1111/cge.13824. Epub 2020 Aug 17. Clin Genet. 2020. PMID: 32729136 Free PMC article.

WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.

Sorokina EA, Reis LM, Thompson S, Agre K, Babovic-Vuksanovic D, Ellingson MS, Hasadsri L, van Bever Y, Semina EV. Sorokina EA, et al. Hum Genet. 2021 Dec;140(12):1775-1789. doi: 10.1007/s00439-021-02384-y. Epub 2021 Oct 12. Hum Genet. 2021. PMID: 34642815 Free PMC article.

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