Isabelle Schrauwen

Columbia University

United States

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Articles (21)

Collaborators (10)

Guy Van Camp

University of Antwerp

Suzanne M. Leal

UNITED STATES

Irma Järvelä

University of Helsinki

Elisa Rahikkala

Anu Goenka

The University of Manchester

UNITED KINGDOM

Ignazio Piras

Research Assistant Professor

Translational Genomics Research Institute

UNITED STATES

Sampath Rangasamy

Associate Professor -Research

Translational Genomics Research Institute

UNITED STATES

Ingeborg Dhooge

Siddharth Banka

The University of Manchester

UNITED KINGDOM

Sulman Basit

SAUDI ARABIA

Isabelle Schrauwen

Research Interests

Explore related searches

Contact this professor

Articles (21)

Collaborators (10)

Guy Van Camp

Suzanne M. Leal

Irma Järvelä

Elisa Rahikkala

Anu Goenka

Ignazio Piras

Sampath Rangasamy

Ingeborg Dhooge

Siddharth Banka

Sulman Basit

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Isabelle Schrauwen

Research Interests

Explore related searches

Contact this professor

Articles (21)

Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis.

A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort

A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria

THBS1 is a new autosomal recessive non-syndromic hearing impairment gene.

Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders

A Novel Variant in VPS13B Underlying Cohen Syndrome

Targeted Resequencing of Otosclerosis Patients from Different Populations Replicates Results from a Previous Genome-Wide Association Study

A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family

SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families

Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family

A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant

Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology

Collaborators (10)

Guy Van Camp

Suzanne M. Leal

Irma Järvelä

Elisa Rahikkala

Anu Goenka

Ignazio Piras

Sampath Rangasamy

Ingeborg Dhooge

Siddharth Banka

Sulman Basit

How do I reach out?

Meet Kite AI