Nanna D. Rendtorff

Copenhagen, 2100, Denmark

Last Updated: 09/26/2026

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Found 32 publications

Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.

Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.

Journal: American journal of human genetics
Published: September 23, 2025

Axial length, myopia progression, and myopic maculopathy in Stickler syndrome.

Axial length, myopia progression, and myopic maculopathy in Stickler syndrome.

Journal: Acta ophthalmologica
Published: April 23, 2025

Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.

Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.

Journal: Human genetics
Published: December 01, 2024

National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark.

National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark.

Journal: European journal of medical genetics
Published: August 17, 2023

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.

Journal: HGG advances
Published: October 11, 2022

Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration.

Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration.

Journal: Science advances
Published: September 07, 2022

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.

Journal: Genes
Published: December 30, 2021

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.

Journal: Scientific reports
Published: November 03, 2021

A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.

A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.

Journal: Human genetics
Published: May 15, 2021

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss.

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss.

Journal: Frontiers in cell and developmental biology
Published: February 05, 2021

Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome.

Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome.

Journal: European journal of medical genetics
Published: December 21, 2020

Functional assessment of variants associated with Wolfram syndrome.

Functional assessment of variants associated with Wolfram syndrome.

Journal: Human molecular genetics
Published: July 06, 2019
Showing 1-12 of 32

Last Updated: 09/26/2026