Kirsten Cremer

Sigmund Freud Str. 25
Bonn, NW 53127, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 43 publications

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 2025

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Journal: Nature communications

Published: March 31, 2025

KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models.

KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models.

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

Published: March 07, 2025

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

Journal: American journal of human genetics

Published: June 18, 2024

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Journal: American journal of human genetics

Published: May 09, 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

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Journal: American journal of human genetics

Published: March 20, 2024

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: July 19, 2023

Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.

Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.

Journal: Pediatric pulmonology

Published: May 22, 2023

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.

Journal: Human molecular genetics

Published: May 12, 2023

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.

Journal: medRxiv : the preprint server for health sciences

Published: April 10, 2023

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Journal: American journal of human genetics

Published: April 06, 2023

Showing 1-12 of 43

Last Updated: 09/26/2026