Clara Velmans

Koeln, NW, Germany

Last Updated: 09/26/2026

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Found 20 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

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.

Journal: Journal of human immunity

Published: April 15, 2026

Extracellular matrix abnormalities in Hutchinson-Gilford progeria fibroblasts: a specific defect in collagen IV and basement membrane architecture?

Extracellular matrix abnormalities in Hutchinson-Gilford progeria fibroblasts: a specific defect in collagen IV and basement membrane architecture?

Journal: Matrix biology plus

Published: April 10, 2026

An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis.

An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis.

Journal: Human genomics

Published: February 08, 2026

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: January 13, 2026

Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing.

Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing.

Journal: Prenatal diagnosis

Published: November 28, 2025

Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation.

Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation.

Journal: International journal of molecular sciences

Published: November 20, 2025

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: May 19, 2025

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.

Journal: Human molecular genetics

Published: March 18, 2025

LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort.

LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort.

Journal: Journal of medical genetics

Published: December 16, 2024

Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.

Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.

Journal: Clinical genetics

Published: July 01, 2024

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: Research square

Published: June 21, 2024

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Last Updated: 09/26/2026