Jennifer A. Bassetti

Medical Genetics | Pediatrics

505 E 70th St
New York, NY 10021

Last Updated: 09/26/2026

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Found 17 publications

Genome and transcriptome sequencing reveal pathogenic activation of a pseudoexon in PKD1 via a de novo-common variant complex allele.

Genome and transcriptome sequencing reveal pathogenic activation of a pseudoexon in PKD1 via a de novo-common variant complex allele.

Journal: Genetics in medicine open

Published: November 12, 2025

Osteogenesis Imperfecta or Non-accidental Trauma? The Diagnostic Dilemma in Pediatric Fractures.

Osteogenesis Imperfecta or Non-accidental Trauma? The Diagnostic Dilemma in Pediatric Fractures.

Journal: Journal of the Pediatric Orthopaedic Society of North America

Published: April 03, 2025

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Journal: ArXiv

Published: February 24, 2025

Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia.

Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia.

Journal: Genetics in medicine open

Published: June 20, 2024

A gain-of-function variant in SREBF1 causes generalized skin hyperpigmentation with congenital cataracts.

A gain-of-function variant in SREBF1 causes generalized skin hyperpigmentation with congenital cataracts.

Journal: The British journal of dermatology

Published: May 07, 2024

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: April 23, 2024

Fanconi-Bickel syndrome complicated by nephrocalcinosis and GFR decline.

Fanconi-Bickel syndrome complicated by nephrocalcinosis and GFR decline.

Journal: Pediatric nephrology (Berlin, Germany)

Published: January 27, 2024

Vignette of a Child with Developmental Regression, Seizures, and Combined Disorders of Movement.

Vignette of a Child with Developmental Regression, Seizures, and Combined Disorders of Movement.

Journal: Movement disorders clinical practice

Published: October 25, 2023

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 23, 2022

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 28, 2022

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.

Journal: Human mutation

Published: November 07, 2021

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 13, 2021

Showing 1-12 of 17

Last Updated: 09/26/2026