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Anna Rajab

Observed names: A Rajab, A. Rajab, ANNA RAJAB, Anna A. Rajab, Anna G. Rajab
Observed institutions: Broad Institute, St George's Hospital, Howard Hughes Medical Institute, Harvard University, St George's, University of London, University of Cologne, Kobe Pharmaceutical University, University of Zurich, Max Delbrück Center, University of Exeter, Royal Devon & Exeter NHS Foundation Trust, Wellcome Sanger Institute, Humboldt-Universität zu Berlin, Massachusetts General Hospital, Ministry of Health, Queen Charlotte's and Chelsea Hospital, Ministry of Health, Royal Hospital, Max Planck Institute for Molecular Genetics, Weill Cornell Medicine, Manton Center for Orphan Disease Research, Sultan Qaboos University, Charité – Universitätsmedizin Berlin, Alexandria University
ORCID: 0000-0003-0287-6893
Observed ORCID: 0000-0003-0287-6893
OpenAlex ID: A5102918931
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
2011 · Hossein Najmabadi, Hao Hu, et al. · Nature · 984
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
2007 · the ARCL Debré-type Study Group, Uwe Kornak, et al. · Nature Genetics · 385
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
2000 · Ali R. Afzal, Anna Rajab, et al. · Nature Genetics · 305
Mutations in PYCR1 cause cutis laxa with progeroid features
2009 · Bruno Reversade, Nathalie Escande-Beillard, et al. · Nature Genetics · 260
Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations
2010 · Anna Rajab, Volker Straub, et al. · PLoS Genetics · 236
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Loss of chondroitin 6- O -sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement
2004 · Holger Thiele, Masahiro Sakano, et al. · Proceedings of the National Academy of Sciences · 195
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
2008 · Hans Christian Hennies, Uwe Kornak, et al. · Nature Genetics · 161
Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit
2006 · Katrin Hoffmann, Juliane S. Müller, et al. · The American Journal of Human Genetics · 158
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Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus
2012 · Jeong Ho Lee, Jennifer L. Silhavy, et al. · Science · 100
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
2011 · Eva Klopocki, Silke Lohan, et al. · Journal of Medical Genetics · 93
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Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome
2004 · Hans Christian Hennies, Anita Rauch, et al. · The American Journal of Human Genetics · 92
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Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination
2015 · Tojo Nakayama, Almundher Al-Maawali, et al. · The American Journal of Human Genetics · 83
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Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP
2011 · F. Ropers, E. Derivery, et al. · Human Molecular Genetics · 81
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment
2017 · Massimo Zollo, Mustafa Ahmed, et al. · Brain · 76
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A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21
2003 · A. Rajab, G. H. Mochida, et al. · Neurology · 67
London Dysmorphology Database
1994 · Anna Rajab, Michael Patton · International Journal of Cardiology · 67
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features
2016 · Qing Ouyang, Tojo Nakayama, et al. · Proceedings of the National Academy of Sciences · 66
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Loss of PCLO function underlies pontocerebellar hypoplasia type III
2015 · Mustafa Y. Ahmed, Barry A. Chioza, et al. · Neurology · 66
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Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome
2013 · Hanan E. Shamseldin, Anna Rajab, et al. · The American Journal of Human Genetics · 64
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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
2008 · Céline Huber, Anee-Lise Delezoide, et al. · European Journal of Human Genetics · 64
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Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman
2008 · Anna Rajab, U. Kornak, et al. · American Journal of Medical Genetics Part A · 57
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots
2010 · Andreas Walter Kuss, Masoud Garshasbi, et al. · Human Genetics · 56
Novel loss‐of‐function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures
2015 · Almundher Al‐Maawali, Brenda J. Barry, et al. · American Journal of Medical Genetics Part A · 52
Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans
2021 · Jamie L. Courtland, Tyler W. A. Bradshaw, et al. · eLife · 47
Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement
2003 · A. Rajab, J. Kunze, et al. · American Journal of Medical Genetics Part A · 46
Works count: 86
Citation count: 4,889
H-index: 34
I10-index: 59
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