Ingrid M. Wentzensen

Family Medicine

600 N Wolfe St
Baltimore, MD 21287

Last Updated: 09/26/2026

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Found 94 publications

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.

Journal: American journal of human genetics

Published: June 05, 2026

Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

Journal: American journal of medical genetics. Part A

Published: April 29, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).

Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).

Journal: Clinical genetics

Published: January 27, 2026

Role of CAMK2D in neurodevelopment and associated conditions.

Role of CAMK2D in neurodevelopment and associated conditions.

Journal: American journal of human genetics

Published: August 12, 2025

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: July 31, 2025

Expanding the phenotype associated with biallelic SCNM1 variants.

Expanding the phenotype associated with biallelic SCNM1 variants.

Journal: Human genomics

Published: July 24, 2025

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Journal: The Journal of clinical investigation

Published: July 23, 2025

Domain specific phenotypic expansion associated with variants in MACF1.

Domain specific phenotypic expansion associated with variants in MACF1.

Journal: medRxiv : the preprint server for health sciences

Published: July 16, 2025

Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.

Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.

Journal: The Journal of clinical investigation

Published: June 10, 2025

Showing 1-12 of 94

Last Updated: 09/26/2026