Author: Blake Vuocolo

1.

Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas

Vuocolo B, Sierra R, Brooks D, Holder C, Urbanski L, Rodriguez K, et al.

J Neurodev Disord . 2024 Sep; 16(1):52. PMID: 39251895

Background: The utilization of genomic information to improve health outcomes is progressively becoming more common in clinical practice. Nonetheless, disparities persist in accessing genetic services among ethnic minorities, individuals with...

2.

LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder

Chettle J, Louie R, Larner O, Best R, Chen K, Morris J, et al.

HGG Adv . 2024 Aug; 5(4):100345. PMID: 39182167

Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects approximately 4% of males and 1% of females in the United States. While causes of ASD are multi-factorial, single...

3.

Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha

German R, Vuocolo B, Vossaert L, Saba L, Fletcher R, Tedder M, et al.

Am J Med Genet A . 2024 Aug; 197(1):e63849. PMID: 39166703

We report a 40-year-old African American female with a novel variant in exon 8 of DNA methyltransferase 3 alpha (DNMT3A), (NM_022552.4: c.905G>C, p.G302A) who presented with a history of recurrent...

4.

Improving access to exome sequencing in a medically underserved population through the Texome Project

Vuocolo B, German R, Lalani S, Murali C, Bacino C, Baskin S, et al.

Genet Med . 2024 Mar; 26(6):101102. PMID: 38431799

Purpose: Genomic medicine can end diagnostic odysseys for patients with complex phenotypes; however, limitations in insurance coverage and other systemic barriers preclude individuals from accessing comprehensive genetics evaluation and testing....

5.

Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss

German R, Vuocolo B, Vossaert L, Owen N, Lewis R, Saba L, et al.

Mol Genet Genomic Med . 2024 Feb; 12(2):e2404. PMID: 38404254

Background: The RPGR gene has been associated with X-linked cone-rod dystrophy. This report describes a variant in RPGR detected with exome sequencing (ES). Genes like RPGR have not always been...

6.

Families' experiences accessing care after genomic sequencing in the pediatric cancer context: "It's just been a big juggle"

Vuocolo B, Gutierrez A, Robinson J, Recinos A, Desrosiers L, Majumder M, et al.

J Genet Couns . 2024 Jan; 33(6):1337-1350. PMID: 38225886

Access to genomic sequencing (GS) and resulting recommendations have not been well described in pediatric oncology. GS results may provide a cancer predisposition syndrome (CPS) diagnosis that warrants screening and...

7.

Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement

Vuocolo B, Sierra R, Brooks D, Holder C, Urbanski L, Rodriguez K, et al.

Res Sq . 2024 Jan; PMID: 38168160

Background: The utilization of genomic information to improve health outcomes is progressively becoming more common in clinical practice. Nonetheless, disparities persist in accessing genetic services among ethnic minorities, individuals with...

8.

Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population

Ford C, Littlejohn R, German R, Vuocolo B, Aceves J, Vossaert L, et al.

Mol Genet Genomic Med . 2023 Aug; 11(12):e2272. PMID: 37614148

Background: Genomic medicine is revolutionizing the diagnosis of rare diseases, but the implementation has not benefited underrepresented populations to the same degree. Here, we report the case of a 7-year-old...

9.

Unwind and Relax: DDX3X RNA Helicase as a Critical Mediator of Cortical Neurogenesis

Vuocolo B, Lloyd Holder Jr J

Neuron . 2020 May; 106(3):357-358. PMID: 32380046

In this issue of Neuron, Lennox et al. (2020) report the largest cohort of patients to date with DDX3X syndrome, discovering unique genotype-phenotype relationships that inform molecular pathogenesis. They then...