Hülya‐Sevcan Daimagüler

Making sense of missense variants in TTN-related congenital myopathies

Martin Rees, Roksana Nikoopour, Atsushi Fukuzawa et al. · Acta Neuropathologica · 2021 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

The genomic and clinical landscape of fetal akinesia

Matthias Pergande, Susanne Motameny, Özkan Özdemir et al. · Genetics in Medicine · 2019 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature

Rosanne Sprute, Kader Karlı Oğuz, Anna Malenica-Mandel et al. · Human Genome Variation · 2019 · 31 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia

Hormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich et al. · Journal of Human Genetics · 2019 · 30 citations

Life Sciences, Genetics, Neurology +10

Genotype–phenotype correlation in seven motor neuron disease families with novel <scp><i>ALS2</i></scp> mutations

Rosanne Sprute, Hannah Jergas, Akgün Ölmez et al. · American Journal of Medical Genetics Part A · 2020 · 30 citations · Full text

Life Sciences, Genetics, Neurology +17