Kimberly K Diaz Perez
Overview
Explore the profile of Kimberly K Diaz Perez including associated specialties, affiliations and a list of published articles.
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4
Citations
47
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Recent Articles
1.
Diaz Perez K, Chung S, Head S, Epstein M, Hecht J, Wehby G, et al.
Am J Med Genet A
. 2023 Jun;
191(10):2558-2570.
PMID: 37350193
Exome sequencing (ES) is now a relatively straightforward process to identify causal variants in Mendelian disorders. However, the same is not true for ES in families where the inheritance patterns...
2.
Diaz Perez K, Curtis S, Sanchis-Juan A, Zhao X, Head T, Ho S, et al.
Genet Med
. 2023 Jun;
25(10):100918.
PMID: 37330696
Purpose: Orofacial clefts (OFCs) are common birth defects including cleft lip, cleft lip and palate, and cleft palate. OFCs have heterogeneous etiologies, complicating clinical diagnostics because it is not always...
3.
Diaz Perez K, Chung S, Head S, Epstein M, Hecht J, Wehby G, et al.
medRxiv
. 2023 Feb;
PMID: 36798250
Whole-exome sequencing (WES) is now a relatively straightforward process to identify causal variants in Mendelian disorders. However, the same is not true for WES in families where the inheritance patterns...
4.
Bishop M, Diaz Perez K, Sun M, Ho S, Chopra P, Mukhopadhyay N, et al.
Am J Hum Genet
. 2020 Jun;
107(1):124-136.
PMID: 32574564
Although de novo mutations (DNMs) are known to increase an individual's risk of congenital defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the most common...