Hans-hilger H. Ropers

Berlin, BE, Germany

Last Updated: 09/26/2026

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Found 50 publications

Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3.

Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3.

Journal: HGG advances

Published: July 21, 2022

Rare diseases: human genome research is coming home.

Rare diseases: human genome research is coming home.

Journal: Cold Spring Harbor molecular case studies

Published: March 25, 2022

A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q.

A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q.

Journal: Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie

Published: November 11, 2020

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3.

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3.

Journal: HGG advances

Published: September 14, 2020

Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.

Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.

Journal: Clinical genetics

Published: July 14, 2020

POLRMT mutations impair mitochondrial transcription causing neurological disease.

POLRMT mutations impair mitochondrial transcription causing neurological disease.

Journal: Nature communications

Published: May 13, 2020

Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability.

Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability.

Journal: Molecular genetics & genomic medicine

Published: May 05, 2020

Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.

Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.

Journal: Neuropediatrics

Published: October 19, 2019

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.

Journal: American journal of human genetics

Published: May 03, 2019

Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.

Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.

Journal: Clinical genetics

Published: February 20, 2019

Homozygous variants in the gene SCAPER cause syndromic intellectual disability.

Homozygous variants in the gene SCAPER cause syndromic intellectual disability.

Journal: American journal of medical genetics. Part A

Published: January 25, 2019

CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability.

CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: November 20, 2018

Showing 1-12 of 50

Last Updated: 09/26/2026