Rosemarie Rupps

Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

Anne Michalk, Sigmar Stricker, Jutta Becker et al. · The American Journal of Human Genetics · 2008 · 142 citations · Full text

Life Sciences, Genetics, Neuroscience +10

Phenotypic expansion of <i>TBX4</i> mutations to include acinar dysplasia of the lungs

Przemysław Szafrański, Zeynep Coban‐Akdemir, Rosemarie Rupps et al. · American Journal of Medical Genetics Part A · 2016 · 108 citations

Life Sciences, Genetics, Molecular Genetics +17

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

Cheryl DeScipio, Laura K. Conlin, Jill A. Rosenfeld et al. · American Journal of Medical Genetics Part A · 2012 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Recurrent trisomy 21: four cases in three generations

JL Gair, Laura Arbour, Rosemarie Rupps et al. · Clinical Genetics · 2005 · 85 citations

Life Sciences, Genetics, Molecular Genetics +13

Phenotypic spectrum associated with <i><scp>PTCHD1</scp></i> deletions and truncating mutations includes intellectual disability and autism spectrum disorder

Ayeshah Chaudhry, Abdul Noor, Bryan Degagne et al. · Clinical Genetics · 2014 · 72 citations

Life Sciences, Genetics, Molecular Genetics +17