Publications by authors named "Shinu Ansari"

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T (brachyury) is linked to a Mendelian form of neural tube defects in humans.
Ranad Shaheen, Essam Alshail, Ahmed Alaqeel, Shinu Ansari, Farah Hindieh

Hum Genet· October 2015

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Genomic analysis of primordial dwarfism reveals novel disease genes.
Ranad Shaheen, Eissa Faqeih, Shinu Ansari, Ghada Abdel-Salam, Zuhair N Al-Hassnan

Genome Res· February 2014

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Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
Ranad Shaheen, Hanan E Shamseldin, Catrina M Loucks, Mohammed Zain Seidahmed, Shinu Ansari

Am J Hum Genet· January 2014

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A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.
Ranad Shaheen, Eissa Faqeih, Shinu Ansari, Fowzan S Alkuraya

Neurogenetics· November 2013

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Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.
Ranad Shaheen, Eissa Faqeih, Muneera J Alshammari, Abdulrahman Swaid, Lihadh Al-Gazali, Shinu Ansari

Eur J Hum Genet· July 2013

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A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.
Ranad Shaheen, Shinu Ansari, Muneera J Alshammari, Hisham Alkhalidi, Hadeel Alrukban

J Med Genet· July 2013

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Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.
Ranad Shaheen, Mona Aglan, Kim Keppler-Noreuil, Eissa Faqeih, Shinu Ansari

Am J Hum Genet· April 2013

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Mutations in TMEM231 cause Meckel-Gruber syndrome.
Ranad Shaheen, Shinu Ansari, Elham Al Mardawi, Muneera J Alshammari, Fowzan S Alkuraya

J Med Genet· March 2013

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Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.
Ranad Shaheen, Anas M Alazami, Muneera J Alshammari, Eissa Faqeih, Nadia Alhashmi, Shinu Ansari

J Med Genet· October 2012

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