Martin Kehrer

Tuebingen, BW, Germany

Last Updated: 09/26/2026

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Found 16 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

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

A further case of AFG2B-related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro).

A further case of AFG2B-related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro).

Journal: Molecular genetics & genomic medicine

Published: May 26, 2023

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.

Journal: Journal of medical genetics

Published: November 14, 2022

A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.

A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.

Journal: Prenatal diagnosis

Published: January 11, 2022

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.

Journal: Journal of medical genetics

Published: June 27, 2021

Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.

Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.

Journal: American journal of medical genetics. Part A

Published: April 08, 2020

Novel HIVEP2 Variants in Patients with Intellectual Disability.

Novel HIVEP2 Variants in Patients with Intellectual Disability.

Journal: Molecular syndromology

Published: February 12, 2019

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.

Journal: BMC cancer

Published: May 16, 2018

HBOC multi-gene panel testing: comparison of two sequencing centers.

HBOC multi-gene panel testing: comparison of two sequencing centers.

Journal: Breast cancer research and treatment

Published: May 08, 2015

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.

Journal: American journal of medical genetics. Part A

Published: August 06, 2014

Showing 1-12 of 16

Last Updated: 09/26/2026