Milen T. Velinov

Pediatrics

89 French St Ste 2300
New Brunswick, NJ 08901

Last Updated: 09/26/2026

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Found 45 publications

The History of and Advances in Newborn Screening: Where Do We Stand?

The History of and Advances in Newborn Screening: Where Do We Stand?

Journal: Genes

Published: February 05, 2026

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

Journal: HGG advances

Published: November 26, 2025

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1-Associated Vulto-van Silfout-de Vries Syndrome (VSVS).

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1-Associated Vulto-van Silfout-de Vries Syndrome (VSVS).

Journal: American journal of medical genetics. Part A

Published: September 01, 2025

Gene Therapy for Fragile X Syndrome, Challenges, and Promises.

Gene Therapy for Fragile X Syndrome, Challenges, and Promises.

Journal: The journal of gene medicine

Published: July 30, 2025

Transgenerational Effects and Heritability of Folate Receptor Alpha Autoantibodies in Autism Spectrum Disorder.

Transgenerational Effects and Heritability of Folate Receptor Alpha Autoantibodies in Autism Spectrum Disorder.

Journal: International journal of molecular sciences

Published: July 03, 2025

An Extremely Preterm Infant With PIK3CA-Related Overgrowth Spectrum (PROS): Alpelisib Treatment and Outcome.

An Extremely Preterm Infant With PIK3CA-Related Overgrowth Spectrum (PROS): Alpelisib Treatment and Outcome.

Journal: Case reports in genetics

Published: April 17, 2025

Newborn Screening for Gaucher Disease: The New Jersey Experience.

Newborn Screening for Gaucher Disease: The New Jersey Experience.

Journal: International journal of neonatal screening

Published: February 28, 2025

Novel, likely pathogenic variant in ATP7A associated with Menkes disease diagnosed with ultrarapid genome sequencing.

Novel, likely pathogenic variant in ATP7A associated with Menkes disease diagnosed with ultrarapid genome sequencing.

Journal: BMJ case reports

Published: October 01, 2024

Neonatal Presentation of Ornithine Transcarbamylase Deficiency Associated With a Hypomorphic OTC Variant (p.Leu301Phe) Previously Reported in Later-Onset Disease.

Neonatal Presentation of Ornithine Transcarbamylase Deficiency Associated With a Hypomorphic OTC Variant (p.Leu301Phe) Previously Reported in Later-Onset Disease.

Journal: Cureus

Published: July 31, 2024

Autosomal Recessive Infantile Hyaline Fibromatosis Identified Using Artificial Intelligence-Assisted Rapid Whole Genome Sequencing: A Rare, Multisystemic, Hereditary Disorder.

Autosomal Recessive Infantile Hyaline Fibromatosis Identified Using Artificial Intelligence-Assisted Rapid Whole Genome Sequencing: A Rare, Multisystemic, Hereditary Disorder.

Journal: Cureus

Published: June 06, 2024

DOCK3-Associated Neurodevelopmental Disorder-Clinical Features and Molecular Basis.

DOCK3-Associated Neurodevelopmental Disorder-Clinical Features and Molecular Basis.

Journal: Genes

Published: September 11, 2023

Efficient Delivery of FMR1 across the Blood Brain Barrier Using AAVphp Construct in Adult FMR1 KO Mice Suggests the Feasibility of Gene Therapy for Fragile X Syndrome.

Efficient Delivery of FMR1 across the Blood Brain Barrier Using AAVphp Construct in Adult FMR1 KO Mice Suggests the Feasibility of Gene Therapy for Fragile X Syndrome.

Journal: Genes

Published: December 11, 2022

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Last Updated: 09/26/2026