Publications by authors named "Angela Bahr"

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ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.
Clara Houdayer, Kathleen Rooney, Liselot van der Laan, Céline Bris, Mariëlle Alders, Angela Bahr

Eur J Hum Genet· November 2025

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DPF2-related Coffin-Siris syndrome type 7 in two generations.
Konstantinos Kolokotronis, Aude-Annick Suter, Ivan Ivanovski, Tanja Frey, Angela Bahr

Eur J Med Genet· June 2024

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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Angela Bahr

Nat Commun· February 2024

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The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.
Andreas J Hülsmeier, Sandra P Toelle, Peter Bellstedt, Christian Wentzel, Angela Bahr

J Lipid Res· December 2023

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A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.
Tanja Frey, Ivan Ivanovski, Angela Bahr, Markus Zweier, Julia Laube

Am J Med Genet A· August 2023

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Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Paranchai Boonsawat, Anselm H C Horn, Katharina Steindl, Alessandra Baumer, Pascal Joset, Angela Bahr

NPJ Genom Med· July 2022

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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Paolo Zanoni, Katharina Steindl, Deepanwita Sengupta, Pascal Joset, Angela Bahr

Genet Med· August 2021

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Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Joost Kummeling, Diante E Stremmelaar, Nicholas Raun, Margot R F Reijnders, Marjolein H Willemsen, Angela Bahr

Mol Psychiatry· June 2021

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Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
Elena Lang, Samuel Koller, David Atac, Oliver A Pfäffli, James V M Hanson, Angela Bahr

Acta Ophthalmol· June 2021

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Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
Jack J Collier, Claire Guissart, Monika Oláhová, Souphatta Sasorith, Florence Piron-Prunier, Angela Bahr

N Engl J Med· June 2021

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Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals and Variants as Most Frequent Causes.
Elena Lang, Samuel Koller, Luzy Bähr, Marc Töteberg-Harms, David Atac, Angela Bahr

Transl Vis Sci Technol· June 2020

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Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.
David Atac, Samuel Koller, James V M Hanson, Silke Feil, Amit Tiwari, Angela Bahr

Hum Mol Genet· January 2020

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Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.
Christina Gerth-Kahlert, Samuel Koller, James V M Hanson, Luzy Baehr, Amit Tiwari, Angela Bahr

Invest Ophthalmol Vis Sci· July 2019

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Unusual retinopathy in a child with severe combined immune deficiency.
Christina Gerth-Kahlert, Amit Tiwari, Mathias M Hauri-Hohl, James V M Hanson, Angela Bahr

Ophthalmic Genet· March 2018

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C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.
Christina Gerth-Kahlert, Amit Tiwari, James V M Hanson, Vaishnavi Batmanabane, Elias Traboulsi, Angela Bahr

Invest Ophthalmol Vis Sci· August 2017

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Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis.
Argelia Medeiros-Domingo, Ardan M Saguner, István Magyar, Angela Bahr, Deniz Akdis

Europace· June 2017

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Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
Amit Tiwari, Angela Bahr, Luzy Bähr, Johannes Fleischhauer, Martin S Zinkernagel

Sci Rep· June 2016

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Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.
Ajoy Vincent, Judith Ng, Christina Gerth-Kahlert, Erika Tavares, Jason T Maynes, Angela Bahr

Invest Ophthalmol Vis Sci· May 2016

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High intralocus variability and interlocus recombination promote immunological diversity in a minimal major histocompatibility system.
Anthony B Wilson, Camilla M Whittington, Angela Bahr

BMC Evol Biol· December 2014

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The evolution of MHC diversity: evidence of intralocus gene conversion and recombination in a single-locus system.
Angela Bahr, Anthony B Wilson

Gene· April 2012

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The impact of sex-role reversal on the diversity of the major histocompatibility complex: insights from the seahorse (Hippocampus abdominalis).
Angela Bahr, Anthony B Wilson

BMC Evol Biol· May 2011

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