Amelie J. Muller

Tuebingen, BW 72074, Germany

Last Updated: 09/26/2026

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Found 21 publications

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

Journal: American journal of human genetics

Published: April 07, 2025

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Journal: American journal of human genetics

Published: June 07, 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

Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.

Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.

Journal: American journal of medical genetics. Part A

Published: December 13, 2023

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.

Journal: Journal of medical genetics

Published: June 20, 2023

Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.

Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.

Journal: Journal of clinical medicine

Published: July 09, 2022

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Journal: Clinical genetics

Published: April 14, 2022

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

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

Published: April 10, 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

Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders.

Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: December 13, 2021

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

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.

Journal: Journal of medical genetics

Published: January 22, 2021

Showing 1-12 of 21

Last Updated: 09/26/2026