My main area of interest is the development and implementation of novel molecular technologies to the diagnosis of genetic disorders. Our laboratory provides molecular testing services for a wide variety of indications, including neurodevelopmental and congenital malformation disorders, hereditary forms of cancer and endocrine disorders. We use next-generation sequencing (NGS) techniques, including exome sequencing, as well as algorithms to infer copy number variations from NGS data, for the identification of disease-causing variants.
In addition to the implementation of clinical tests, I have an active interest in performing genotype-phenotype correlation studies to better delineate the mutational and phenotypic spectrum of genetic disorders, understanding the underlying molecular mechanisms for novel mutations identified through clinical testing as well as identifying potential novel disease genes. In the past few years, my most significant research contributions stem from my clinical work in the area of monogenic disorders of insulin secretion, specifically monogenic diabetes and congenital hyperinsulinism.
Department of Molecular and Human Genetics, Baylor College of Medicine
Houston, TX
ABMGG Certification-Clinical Molecular Genetics
2007
University of Naples “Federico II"
Naples, Italy
Ph.D. - Clinical Biochemistry and Clinical Molecular Biology
2004
University of Naples “Federico II"
Naples, Italy
B.Sc.
1999
A novel telomere biology disease-associated gastritis identified through a whole exome sequencing-driven approach.
A novel telomere biology disease-associated gastritis identified through a whole exome sequencing-driven approach. J Pathol Clin Res. 2024 Jan; 10(1):e349.
PMID: 37994393
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma. JAMA Netw Open. 2023 08 01; 6(8):e2327351.
PMID: 37556141
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023 Dec; 25(12):100947.
PMID: 37534744
Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma.
Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma. Hematol Oncol. 2022 Aug; 40(3):475-478.
PMID: 35613340
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders. Hum Mutat. 2022 07; 43(7):950-962.
PMID: 35419889
Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO.
Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO. J Endocr Soc. 2022 Apr 01; 6(4):bvac015.
PMID: 35237736
Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.
Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes. Diabetes Res Clin Pract. 2021 May; 175:108798.
PMID: 33845048
Germline variants drive myelodysplastic syndrome in young adults.
Germline variants drive myelodysplastic syndrome in young adults. Leukemia. 2021 08; 35(8):2439-2444.
PMID: 33510405
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants. Am J Med Genet A. 2021 03; 185(3):889-893.
PMID: 33369061
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. Brain. 2020 12 01; 143(12):3564-3573.
PMID: 33242881