Anna Rajab

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Hossein Najmabadi, Hao Hu, Masoud Garshasbi et al. · Nature · 2011 · 987 citations

Life Sciences, Genetics, Molecular Genetics +12

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou et al. · Nature Genetics · 2007 · 376 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

Ali R. Afzal, Anna Rajab, Christiane Fenske et al. · Nature Genetics · 2000 · 305 citations

Life Sciences, Genetics, Molecular Genetics +7

Mutations in PYCR1 cause cutis laxa with progeroid features

Bruno Reversade, Nathalie Escande‐Beillard, Aikaterini Dimopoulou et al. · Nature Genetics · 2009 · 253 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

Anna Rajab, Volker Straub, Liza McCann et al. · PLoS Genetics · 2010 · 238 citations · Full text

Medicine, Cardiology, Genetics +17