List of works - Thomas Haaf

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

scientific article published in 2021

A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family

scientific article published on 10 June 2020

Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion

scientific article published on 26 February 2020

DNA methylation signatures in Blood DNA of Hutchinson-Gilford Progeria syndrome

scientific article published on 19 January 2022

Epigenetic signatures of Werner syndrome occur early in life and are distinct from normal epigenetic aging processes

scientific article published on 01 July 2019

Evolution of the Degenerated Y-Chromosome of the Swamp Guppy, Micropoecilia picta

scientific article published in 2022

Genetic Characterization of Rat Hepatic Stellate Cell Line HSC-T6 for In Vitro Cell Line Authentication

scientific article published on 29 May 2022

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

scientific article published on 11 November 2020

Increasing methylation of sperm rDNA and other repetitive elements in the aging male mammalian germline

scientific article published on 01 July 2020

Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation-negative early-onset and high-risk breast cancer patients

scientific article published on 25 April 2018

The Arboranan Frogs: Introduction

scientific article published on 17 October 2018

The Arboranan Frogs: Materials and Methods

scientific article published on 17 October 2018

The Arboranan Frogs: Results and Discussion

scientific article published on 17 October 2018

Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report.

scientific article published on 7 June 2019

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

scientific article published in 2021

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome

scientific article published in 2024

List of works by Thomas Haaf

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family

Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion

DNA methylation signatures in Blood DNA of Hutchinson-Gilford Progeria syndrome

Epigenetic signatures of Werner syndrome occur early in life and are distinct from normal epigenetic aging processes

Evolution of the Degenerated Y-Chromosome of the Swamp Guppy, Micropoecilia picta

Genetic Characterization of Rat Hepatic Stellate Cell Line HSC-T6 for In Vitro Cell Line Authentication

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

Increasing methylation of sperm rDNA and other repetitive elements in the aging male mammalian germline

Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation-negative early-onset and high-risk breast cancer patients

The Arboranan Frogs: Introduction

The Arboranan Frogs: Materials and Methods

The Arboranan Frogs: Results and Discussion

Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report.

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome