Pauline E. Schneeberger

Hamburg, HH 20246, Germany

Last Updated: 09/26/2026

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Found 11 publications

Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.

Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.

Journal: European journal of human genetics : EJHG

Published: May 14, 2021

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

Journal: Brain : a journal of neurology

Published: March 16, 2021

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.

Journal: Brain : a journal of neurology

Published: February 26, 2021

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.

Journal: American journal of human genetics

Published: January 24, 2021

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.

Journal: Brain : a journal of neurology

Published: September 21, 2020

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.

Journal: American journal of human genetics

Published: July 31, 2020

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.

Journal: Scientific reports

Published: July 06, 2020

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.

Journal: American journal of medical genetics. Part A

Published: February 24, 2020

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

Journal: Brain : a journal of neurology

Published: November 22, 2019

de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation.

de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation.

Journal: Scientific reports

Published: May 08, 2019

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.

Journal: American journal of human genetics

Published: February 12, 2019

Showing 1-11 of 11

Last Updated: 09/26/2026