Paulina Bahena

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Robert W. Taylor, R. Boostani, T. Haaf, 2018, BMC Medical Genetics.

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

A. Need, A. Pagnamenta, J. Wren, 2021, Genetics in Medicine.

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

H. Ahmadieh, L. Kuehlewein, T. Haaf, 2021, Human Genetics.

Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family

L. Edelmann, T. Haaf, R. Maroofian, 2017, Molecular Syndromology.

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

T. Haaf, T. Müller, M. Dittrich, 2020, Molecular genetics & genomic medicine.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

J. Ganesh, P. Robinson, S. Mundlos, 2015, American journal of human genetics.

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

H. Ahmadieh, L. Kuehlewein, T. Haaf, 2021, Human genetics.

University of Groningen Recurrent De Novo Mutations Affecting Residue Arg1 38 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa Fischer-Zirnsak,

J. Ganesh, P. Robinson, S. Mundlos, 2022 .