Martina Kreiss

Sigmund Freud Str. 25
Bonn, NW 53127, Germany

Last Updated: 09/26/2026

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Found 13 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

Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.

Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.

Journal: Molecular psychiatry

Published: January 13, 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

Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.

Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: January 05, 2022

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.

Journal: Nature genetics

Published: December 31, 2020

Bi-allelic truncating mutations in VWA1 cause neuromyopathy.

Bi-allelic truncating mutations in VWA1 cause neuromyopathy.

Journal: Brain : a journal of neurology

Published: June 18, 2020

Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome.

Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome.

Journal: The British journal of dermatology

Published: April 14, 2020

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.

Journal: Human genetics

Published: March 22, 2018

De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia.

De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia.

Journal: Frontiers in pediatrics

Published: February 02, 2018

Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome.

Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome.

Journal: Prenatal diagnosis

Published: November 16, 2015

De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.

De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.

Journal: European journal of human genetics : EJHG

Published: October 26, 2015

Showing 1-12 of 13

Last Updated: 09/26/2026