Ingrid M Wentzensen

None None 11 collaborations

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Affiliations

Publications (22)

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.

Expanding the Phenotype of

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Genotype-phenotype correlation at codon 1740 of SETD2.

Delineating the genotypic and phenotypic spectrum of

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.

The prevalence and phenotypic range associated with biallelic PKDCC variants.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature.

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Réseau de co-auteurs