Helene Faust

Philipp Rosenthal Str. 55
Leipzig, SN 04103, Germany

Last Updated: 09/26/2026

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Found 11 publications

Case Report: Deep intronic PHEX variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia.

Case Report: Deep intronic PHEX variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia.

Journal: Frontiers in endocrinology

Published: April 03, 2026

Clinical and genetic diagnostic challenges in presumed hereditary ataxia.

Clinical and genetic diagnostic challenges in presumed hereditary ataxia.

Journal: Journal of neurology

Published: January 28, 2026

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

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

Published: June 23, 2025

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

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

Published: June 23, 2025

Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.

Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.

Journal: International journal of obesity (2005)

Published: September 27, 2024

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

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

Published: July 05, 2024

Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm.

Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm.

Journal: Acta haematologica

Published: May 16, 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

Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel SLCA6A19 Variant: A Case Report.

Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel SLCA6A19 Variant: A Case Report.

Journal: Neurology. Genetics

Published: March 04, 2024

Evaluation of Automated Magnetic Bead-Based DNA Extraction for Detection of Short Tandem Repeat Expansions With Nanopore Sequencing.

Evaluation of Automated Magnetic Bead-Based DNA Extraction for Detection of Short Tandem Repeat Expansions With Nanopore Sequencing.

Journal: Journal of clinical laboratory analysis

Published: August 12, 2023

Carnosine inhibits glioblastoma growth independent from PI3K/Akt/mTOR signaling.

Carnosine inhibits glioblastoma growth independent from PI3K/Akt/mTOR signaling.

Journal: PloS one

Published: February 13, 2019

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Last Updated: 09/26/2026