Marie Falkenberg Smeland

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Morad Ansari, Gemma Poke, Quentin R. V. Ferry et al. · Journal of Medical Genetics · 2014 · 165 citations · Full text

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Karin Weiss, Hayley P. Lazar, Alina Kurolap et al. · Genetics in Medicine · 2019 · 97 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

Claudia Voigt, André Mégarbané, Kornelia Neveling et al. · Orphanet Journal of Rare Diseases · 2013 · 54 citations · Full text

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9

Marie Falkenberg Smeland, Conor McClenaghan, Helen I. Roessler et al. · Nature Communications · 2019 · 40 citations · Full text

β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in <i>MANBA</i>

Maria Blomqvist, Marie Falkenberg Smeland, Julia Lindgren et al. · Molecular Case Studies · 2019 · 22 citations · Full text