Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

Jawahir Y. Mohamed · SciRah

Researcher profile · Semantic Scholar

Jawahir Y. Mohamed

Share profile

Jawahir Y. Mohamed — researcher profile on SciRah

h-index: 23
Works: 31
Citations: 2,062

Most-cited papers

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
A. Alazami, N. Patel, H. Shamseldin, S. Anazi +49 more
2015Cell Reports461 citations Open access
Semantic Scholar
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.
M. Aldahmesh, Jawahir Y. Mohamed, H. Alkuraya, I. Verma +4 more
2011American Journal of Human Genetics193 citations Open access
Semantic Scholar
In search of triallelism in Bardet–Biedl syndrome
L. Abu‐Safieh, Shamsa Alanazi, L. Alabdi, M. Hashem +19 more
2012European Journal of Human Genetics133 citations Open access
Semantic Scholar
Mutations in LRPAP1 are associated with severe myopia in humans.
M. Aldahmesh, Arif O. Khan, H. Alkuraya, N. Adly +11 more
2013American Journal of Human Genetics117 citations Open access
Semantic Scholar
Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus
A. Alazami, H. Hijazi, M. Al-Dosari, R. Shaheen +8 more
2013Journal of Medical Genetics107 citations
Semantic Scholar
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.
Jawahir Y. Mohamed, E. Faqeih, A. Alsiddiky, M. Alshammari +2 more
2013American Journal of Human Genetics95 citations Open access
Semantic Scholar
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome
M. Aldahmesh, Arif O. Khan, Jawahir Y. Mohamed, H. Alkuraya +4 more
2011Journal of Medical Genetics84 citations
Semantic Scholar
The distinct ophthalmic phenotype of Knobloch syndrome in children
Arif O. Khan, M. Aldahmesh, Jawahir Y. Mohamed, Saleh A. Al-mesfer +1 more
2012British Journal of Ophthalmology83 citations
Semantic Scholar
A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B
A. Alazami, A. Kentab, E. Faqeih, Jawahir Y. Mohamed +3 more
2015Journal of Medical Genetics74 citations
Semantic Scholar
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus
M. Aldahmesh, Arif O. Khan, Jawahir Y. Mohamed, M. Alghamdi +1 more
2012Human Mutation74 citations Open access
Semantic Scholar
Expanding the phenome and variome of skeletal dysplasia
S. Maddirevula, S. Alsahli, Lamees Alhabeeb, N. Patel +52 more
2018Genetics in Medicine71 citations Open access
Semantic Scholar
Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
N. Patel, Arif O. Khan, A. Mansour, Jawahir Y. Mohamed +7 more
2014American Journal of Human Genetics65 citations Open access
Semantic Scholar
The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in ADAMTS18
M. Aldahmesh, M. Alshammari, Arif O. Khan, Jawahir Y. Mohamed +2 more
2013Human Mutation64 citations Open access
Semantic Scholar
Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes
M. Aldahmesh, Arif O. Khan, Jawahir Y. Mohamed, H. Hijazi +3 more
2012Genetics in Medicine63 citations Open access
Semantic Scholar
Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations
M. Aldahmesh, Arif O. Khan, Jawahir Y. Mohamed, F. Alkuraya
2011Genetics in Medicine51 citations Open access
Semantic Scholar
Molecular Characterization of Newborn Glaucoma Including a Distinct Aniridic Phenotype
Arif O. Khan, M. Aldahmesh, L. Alabdi, Jawahir Y. Mohamed +3 more
2011Ophthalmic Genetics40 citations
Semantic Scholar
Study of Mendelian forms of Crohn's disease in Saudi Arabia reveals novel risk loci and alleles
N. Patel, M. El Mouzan, S. Al-Mayouf, N. Adly +7 more
2014Gut37 citations
Semantic Scholar
Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos.
M. Aldahmesh, S. Nowilaty, F. Alzahrani, L. Al-Ebdi +4 more
2011A M A Archives of Ophthalmology37 citations Open access
Semantic Scholar
Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X).
Arif O. Khan, M. Aldahmesh, Jawahir Y. Mohamed, F. Alkuraya
2010A M A Archives of Ophthalmology32 citations Open access
Semantic Scholar
Ocular manifestations of branchio-oculo-facial syndrome: Report of a novel mutation and review of the literature
M. Al-Dosari, M. Almazyad, L. Al-Ebdi, Jawahir Y. Mohamed +7 more
2010Molecular Vision26 citations
Semantic Scholar
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).
N. Patel, Laura L. Smith, E. Faqeih, Jawahir Y. Mohamed +2 more
2014Human Molecular Genetics25 citations Open access
Semantic Scholar
Phenotype-genotype Correlation in Potential Female Carriers of X-linked Developmental Cataract (Nance-Horan Syndrome)
Arif O. Khan, M. Aldahmesh, Jawahir Y. Mohamed, F. Alkuraya
2012Ophthalmic Genetics25 citations
Semantic Scholar
No evidence for locus heterogeneity in Knobloch syndrome
M. Aldahmesh, Arif O. Khan, Jawahir Y. Mohamed, A. Levin +4 more
2013Journal of Medical Genetics23 citations
Semantic Scholar
Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F)
Huda A. Al-Ghadeer, Jawahir Y. Mohamed, Arif O. Khan
2011Middle East African Journal of Ophthalmology17 citations Open access
Semantic Scholar
Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.
Arif O. Khan, L. Alabdi, Jawahir Y. Mohamed, M. Aldahmesh +1 more
2011Journal of AAPOS15 citations
Semantic Scholar
Congenital glaucoma with acquired peripheral circumferential iris degeneration.
Arif O. Khan, M. Aldahmesh, Jawahir Y. Mohamed, F. Alkuraya
2013Journal of AAPOS14 citations
Semantic Scholar
Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula
Arif O. Khan, M. Aldahmesh, Jawahir Y. Mohamed, F. Alkuraya
2012British Journal of Ophthalmology14 citations
Semantic Scholar
Complete Aniridia with Central Keratopathy and Congenital Glaucoma is a CYP1B1-related Phenotype
Arif O. Khan, M. Aldahmesh, Jawahir Y. Mohamed, H. Hijazi +1 more
2014Ophthalmic Genetics10 citations Open access
Semantic Scholar
CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.
Arif O. Khan, M. Aldahmesh, Jawahir Y. Mohamed, H. Hijazi +1 more
2012Journal of AAPOS8 citations
Semantic Scholar
ZBTB 42 Mutation Defines A Novel Lethal Congenital Contracture Syndrome ( LCCS 6 )
N. Patel, Laura L. Smith, E. Faqeih, Jawahir Y. Mohamed +2 more
20144 citations
Semantic Scholar
Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations.
Arif O. Khan, M. Aldahmesh, Jawahir Y. Mohamed, F. Alkuraya
2013Journal of AAPOS3 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

F. Alkuraya×30
Invite
F. Alkuraya — researcher profile on SciRah
Arif O. Khan×22
Invite
Arif O. Khan — researcher profile on SciRah
M. Aldahmesh×21
Invite
M. Aldahmesh — researcher profile on SciRah
H. Hijazi×7
Invite
H. Hijazi — researcher profile on SciRah

×7

Invite

E. Faqeih — researcher profile on SciRah

Invite

N. Patel — researcher profile on SciRah

Invite

H. Alkuraya — researcher profile on SciRah

Invite

M. Hashem — researcher profile on SciRah

Invite

A. Alazami — researcher profile on SciRah

M. Alshammari×4

Invite

M. Alshammari — researcher profile on SciRah

Invite

N. Ibrahim — researcher profile on SciRah

Invite

S. Anazi — researcher profile on SciRah