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 · 59 citations · Full text

<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

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 · 35 citations · Full text

Genetics, Genetic Epidemiology, Pathology +23

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 · 34 citations · Full text

Nursing, Research Participants, Performance Studies +6

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

Femke Molema, Florian Gleich, Peter Burgard et al. · Molecular Genetics and Metabolism · 2019 · 32 citations · Full text

Renal Function, Health Sciences, Physiology +9