Publications by authors named "Anna Rajab"

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Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.
Bruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, Björn Fischer, Serene C Chng, Anna Rajab

Nat Genet· February 2022

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DALIA- a comprehensive resource of Disease Alleles in Arab population.
Aastha Vatsyayan, Parul Sharma, Shrey Gupta, Sumiti Sandhu, Seetha Lakshmi Venu, Anna Rajab

PLoS One· May 2021

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Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans.
Jamie L Courtland, Tyler Wa Bradshaw, Greg Waitt, Erik J Soderblom, Tricia Ho, Anna Rajab

Elife· March 2021

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Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.
Michael E Coulter, Damir Musaev, Ellen M DeGennaro, Xiaochang Zhang, Katrin Henke, Anna Rajab

Genet Med· June 2020

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Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
Atteeq U Rehman, Maryam Najafi, Marios Kambouris, Lihadh Al-Gazali, Periklis Makrythanasis, Anna Rajab

Hum Mutat· March 2019

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PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Massimo Zollo, Mustafa Ahmed, Veronica Ferrucci, Vincenzo Salpietro, Fatemeh Asadzadeh, Anna Rajab

Brain· April 2017

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Importance of FISH combined with Morphology, Immunophenotype and Cytogenetic Analysis of Childhood/ Adult Acute Lymphoblastic Leukemia in Omani Patients.
Tadakal Mallana Goud, Kamla Khalfan Al Salmani, Salma Mohammed Al Harasi, Muhanna Al Musalhi, Shah Mohammed Wasifuddin, Anna Rajab

Asian Pac J Cancer Prev· September 2016

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Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
Qing Ouyang, Tojo Nakayama, Ozan Baytas, Shawn M Davidson, Chendong Yang, Anna Rajab

Proc Natl Acad Sci U S A· September 2016

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Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
Almundher Al-Maawali, Brenda J Barry, Anna Rajab, Malak El-Quessny, Ann Seman

Am J Med Genet A· February 2016

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Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman.
Intisar Al-Alawi, Tadakal Mallana Goud, Salma Al-Harasi, Anna Rajab

Reprod Biomed Online· February 2016

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Repository of mutations from Oman: The entry point to a national mutation database.
Anna Rajab, Nishath Hamza, Salma Al Harasi, Fatma Al Lawati, Una Gibbons

F1000Res· November 2015

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Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.
Anna Rajab, Markus Schuelke, Esther Gill, Angelika Zwirner, Franziska Seifert

J Med Genet· September 2015

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Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
Tojo Nakayama, Almundher Al-Maawali, Malak El-Quessny, Anna Rajab, Samir Khalil

Am J Hum Genet· May 2015

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Loss of PCLO function underlies pontocerebellar hypoplasia type III.
Mustafa Y Ahmed, Barry A Chioza, Anna Rajab, Klaus Schmitz-Abe, Aisha Al-Khayat

Neurology· April 2015

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Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.
Hanan E Shamseldin, Anna Rajab, Amal Alhashem, Ranad Shaheen, Tarfa Al-Shidi

Am J Hum Genet· September 2013

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Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.
Claus-Eric Ott, Björn Fischer, Phillipe Schröter, Reyk Richter, Neerja Gupta, Anna Rajab

Bone· August 2013

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Genetic services and testing in the Sultanate of Oman. Sultanate of Oman steps into modern genetics.
Anna Rajab, I Al Rashdi, Q Al Salmi

J Community Genet· July 2013

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Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
Eva Klopocki, Silke Lohan, Sandra C Doelken, Sigmar Stricker, Charlotte W Ockeloen, Anna Rajab

J Med Genet· February 2012

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Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
Jeong Ho Lee, Jennifer L Silhavy, Ji Eun Lee, Lihadh Al-Gazali, Sophie Thomas, Anna Rajab

Science· February 2012

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Dosage effect of zero to three functional LBR-genes in vivo and in vitro.
Sophia Gravemann, Nele Schnipper, Hannes Meyer, Amparo Vaya, Malgorzata Jm Nowaczyk, Anna Rajab

Nucleus· January 2012

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Hossein Najmabadi, Hao Hu, Masoud Garshasbi, Tomasz Zemojtel, Seyedeh Sedigheh Abedini, Anna Rajab

Nature· September 2011

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Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
Fabienne Ropers, Emmanuel Derivery, Hao Hu, Masoud Garshasbi, Mohsen Karbasiyan, Anna Rajab

Hum Mol Genet· July 2011

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Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
Andreas Walter Kuss, Masoud Garshasbi, Kimia Kahrizi, Andreas Tzschach, Farkhondeh Behjati, Anna Rajab

Hum Genet· February 2011

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Developmental and degenerative features in a complicated spastic paraplegia.
M Chiara Manzini, Anna Rajab, Thomas M Maynard, Ganeshwaran H Mochida, Wen-Hann Tan

Ann Neurol· April 2010

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Extended molecular spectrum of beta- and alpha-thalassemia in Oman.
Suha M Hassan, Nishat Hamza, Fatma Jaffer Al-Lawatiya, Ali Jaffer Mohammed, Cornelis L Harteveld, Anna Rajab

Hemoglobin· January 2010

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