Anne Marie Jelsig

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole, Stéphanie Efthymiou, Emer O’Connor et al. · The American Journal of Human Genetics · 2020 · 64 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Research participants in NGS studies want to know about incidental findings

Anne Marie Jelsig, Niels Qvist, Klaus Brusgaard et al. · European Journal of Human Genetics · 2015 · 37 citations

Social Sciences, Psychology, Experimental Psychology +5

Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness

Alice E. Davidson, Sek‐Shir Cheong, Pirro G. Hysi et al. · PLoS ONE · 2014 · 36 citations · Full text

Medicine, Genetics, Ophthalmology +17

<scp>JP–HHT</scp> phenotype in Danish patients with <i><scp>SMAD4</scp></i> mutations

Anne Marie Jelsig, Pernille Mathiesen Tørring, Anette Drøhse Kjeldsen et al. · Clinical Genetics · 2015 · 36 citations

Life Sciences, Genetics, Molecular Genetics +15

Cancer in Patients With Familial Adenomatous Polyposis: A Nationwide Danish Cohort Study With Matched Controls

John Gásdal Karstensen, Steffen Bülow, Helle Højen et al. · Gastroenterology · 2023 · 35 citations · Full text

Medicine, Oncology, Cancer Epidemiology +16