Selected publications
- Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome. Clinical Genetics. 2017 Academic Article GET IT
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Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.
Annals of Neurology.
2017
Academic Article
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Times cited: 5 -
NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): Case report of a new member of thin corpus callosum SPG-Subgroup.
BMC Medical Genetics.
2017
Academic Article
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Times cited: 2 - NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup. BMC Medical Genetics. 2017 Academic Article GET IT
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Non-truncating LIFR mutation: Causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction?.
Clinical Genetics.
2015
Academic Article
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Times cited: 3 -
Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.
Pediatric Neurology.
2014
Academic Article
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Times cited: 5 -
Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance.
BMC Research Notes.
2014
Academic Article
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Times cited: 8 -
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.
American Journal of Medical Genetics, Part A.
2014
Article
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Times cited: 6 -
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.
American Journal of Medical Genetics, Part A.
2014
Article
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Times cited: 6 -
Chilblains as a diagnostic sign of aicardi-goutiƩres syndrome.
Neuropediatrics.
2010
Academic Article
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Times cited: 20 -
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Human Mutation.
2010
Academic Article
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Times cited: 37 -
Expanding CEP290 mutational spectrumin ciliopathies.
American Journal of Medical Genetics, Part A.
2009
Academic Article
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Times cited: 17 -
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Nature Genetics.
2009
Academic Article
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Times cited: 197 -
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Clinical Genetics.
2008
Academic Article
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Times cited: 33 -
Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy.
Journal of Neurology.
2008
Academic Article
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Times cited: 15 -
The molar tooth sign: A new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.
Neurology.
2008
Academic Article
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Times cited: 28 -
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
American Journal of Human Genetics.
2007
Academic Article
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Times cited: 78 -
Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
American Journal of Medical Genetics, Part A.
2007
Academic Article
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Times cited: 52 -
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Annals of Neurology.
2006
Academic Article
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Times cited: 88 - Repeat contraction in fragile X syndrome: Timing of (CGG)n trinucleotide repeat's transition. Emirates Medical Journal. 2002 Academic Article
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Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.
Human Mutation.
1999
Academic Article
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Times cited: 9 -
Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection.
Human Genetics.
1995
Academic Article
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Times cited: 17