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101

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype

Eyaid, Wafaa, Al Harbi, Talal, Anazi, Shamsa, Wamelink, Mirjam M. C., Jakobs, Cornelis, Al Salammah, Mohammad, Al Balwi, Mohammed, Alfadhel, Majid, Alkuraya, Fowzan S.

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 461 KB

english, 2013

102

Childhood Cone-rod Dystrophy with Macular Cystic Degeneration from Recessive CRB1 Mutation

Khan, Arif O., Aldahmesh, Mohammed A., Abu-Safieh, Leen, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2014

Language:

english

File:

PDF, 577 KB

english, 2014

103

Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data

Carr, Ian M., Morgan, Joanne, Watson, Christopher, Melnik, Svitlana, Diggle, Christine P., Logan, Clare V., Harrison, Sally M., Taylor, Graham R., Pena, Sergio D.J., Markham, Alexander F., Alkuraya, F

Journal:

Year:

2013

Language:

english

File:

PDF, 434 KB

english, 2013

104

Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations

Aldahmesh, Mohammed A., Khan, Arif O., Mohamed, Jawahir, Alkuraya, Fowzan S.

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 737 KB

english, 2011

105

Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome

Shamseldin, Hanan E., Rajab, Anna, Alhashem, Amal, Shaheen, Ranad, Al-Shidi, Tarfa, Alamro, Rana, Al Harassi, Salma, Alkuraya, Fowzan S.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.33 MB

english, 2013

106

SUMO1 Haploinsufficiency Leads to Cleft Lip and Palate

Alkuraya, F. S.

Journal:

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

107

A Novel Homozygous Mutation inG6PC3Presenting as Cyclic Neutropenia and Severe Congenital Neutropenia in the Same Family

Alangari, Abdullah A., Alsultan, Abdulrahman, Osman, Mohamed Elfaki, Anazi, Shamsa, Alkuraya, Fowzan S.

Journal:

Journal of Clinical Immunology

Year:

2013

Language:

english

File:

PDF, 190 KB

english, 2013

108

Biometric and Molecular Characterization of Clinically Diagnosed Posterior Microphthalmos

Nowilaty, Sawsan R., Khan, Arif O., Aldahmesh, Mohammed A., Tabbara, Khalid F., Al-Amri, Abdullah, Alkuraya, Fowzan S.

Journal:

American Journal of Ophthalmology

Year:

2013

Language:

english

File:

PDF, 1.73 MB

english, 2013

109

Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia

Zahrani, Fatema, Aldahmesh, Mohammed A., Alshammari, Muneera J., Al-Hazzaa, Selwa A.F., Alkuraya, Fowzan S.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 596 KB

english, 2013

110

C19orf12 mutation leads to a pallido-pyramidal syndrome

Kruer, Michael C., Salih, Mustafa A., Mooney, Catherine, Alzahrani, Jawahir, Elmalik, Salah A., Kabiraj, Mohammad M., Khan, Arif O., Paudel, Reema, Houlden, Henry, Azzedine, Hamid, Alkuraya, Fowzan

Journal:

Year:

2014

Language:

english

File:

PDF, 876 KB

english, 2014

111

Juvenile Cataract Morphology in 3 Siblings Not Yet Diagnosed with Cerebrotendinous Xanthomatosis

Khan, Arif O., Aldahmesh, Mohammed A., Mohamed, Jawaher Y., Alkuraya, Fowzan S.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.00 MB

english, 2013

112

Author index for volume 2

Khan, Arif O., Aldahmesh, Mohammed A., Mohamed, Jawahir Y., Alkuraya, Fowzan S.

Journal:

Journal of Stroke and Cerebrovascular Diseases

Year:

1992

File:

PDF, 156 KB

1992

113

Congenital glaucoma with acquired peripheral circumferential iris degeneration

Khan, Arif O., Aldahmesh, Mohammed A., Mohamed, Jawahir Y., Alkuraya, Fowzan S.

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2013

Language:

english

File:

PDF, 380 KB

english, 2013

114

Lenticular changes in cerebrotendinous xanthomatosis, a treatable metabolic disorder that is important to recognize

Khan, Arif O., Aldahmesh, Mohammed A., Jawaher, Arif, Fowzan, Y. Mohamed, Khan, S. Alkuraya

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2013

Language:

english

File:

PDF, 43 KB

english, 2013

115

The WNT7A G204S mutation is associated with both Al-Awadi–Raas Rothschild syndrome and Fuhrmann syndrome phenotypes

Al-Qattan, M.M., Shamseldin, H.E., Alkuraya, F.S.

Journal:

Year:

2013

Language:

english

File:

PDF, 349 KB

english, 2013

116

Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome

Patel, Nisha, Khan, Arif O., Mansour, Ahmad, Mohamed, Jawahir Y., Al-Assiri, Abdullah, Haddad, Randa, Jia, Xiaofei, Xiong, Yong, Mégarbané, André, Traboulsi, Elias I., Alkuraya, Fowzan S.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.59 MB

english, 2014

117

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus

Alazami, A. M., Hijazi, H., Al-Dosari, M. S., Shaheen, R., Hashem, A., Aldahmesh, M. A., Mohamed, J. Y., Kentab, A., Salih, M. A., Awaji, A., Masoodi, T. A., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 2.21 MB

english, 2013

118

The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder

Khan, Arif O., Shaheen, Ranad, Alkuraya, Fowzan S.

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2014

Language:

english

File:

PDF, 1024 KB

english, 2014

119

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation

Khan, Arif O., Aldahmesh, Mohammed A., Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2012

Language:

english

File:

PDF, 685 KB

english, 2012

120

Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation

Shamseldin, H. E., Faden, M. A., Alashram, W., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 798 KB

english, 2012

121

Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family

Chograni, M., Alkuraya, F.S., Ourteni, I., Maazoul, F., Lariani, I., Chaabouni, H.B.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 675 KB

english, 2014

122

MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts

Alsultan, A., Shamseldin, H. E., Osman, M. E., Aljabri, M., Alkuraya, F. S.

Journal:

Year:

2013

Language:

english

File:

PDF, 551 KB

english, 2013

123

Homozygosity mapping: One more tool in the clinical geneticist's toolbox

Alkuraya, Fowzan S

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 286 KB

english, 2010

124

Phenotype-genotype Correlation in Potential Female Carriers of X-linked Developmental Cataract (Nance-Horan Syndrome)

Khan, Arif O., Aldahmesh, Mohammed A., Mohamed, Jawahir Y., Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2012

Language:

english

File:

PDF, 1.03 MB

english, 2012

125

Current Indications and Resultant Complications of Evisceration

Chaudhry, Imtiaz A., AlKuraya, Hisham S, Shamsi, Farrukh A., Elzaridi, Elsanusi, Riley, Fenwick C.

Journal:

Ophthalmic Epidemiology

Year:

2007

Language:

english

File:

PDF, 85 KB

english, 2007

126

Novel CENPJ mutation causes Seckel syndrome

Al-Dosari, M. S., Shaheen, R., Colak, D., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 213 KB

english, 2010

127

Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia

Alazami, Anas M., Seidahmed, Mohammed Zain, Alzahrani, Fatema, Mohammed, Adam O., Alkuraya, Fowzan S.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 1.13 MB

english, 2014

128

Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14 -related Ehlers-Danlos syndrome

Aldeeri, A.A., Alazami, A.M., Hijazi, H., Alzahrani, F., Alkuraya, F.S.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 603 KB

english, 2014

129

Mutations in ALDH1A3 cause microphthalmia

Aldahmesh, M A, Khan, A O, Hijazi, H, Alkuraya, F S

Journal:

Clinical Genetics

Year:

2013

Language:

english

File:

PDF, 673 KB

english, 2013

130

Ciliary Genes TBC1D32 / C6orf170 and SCLT1 are Mutated in Patients with OFD Type IX

Adly, Nouran, Alhashem, Amal, Ammari, Amer, Alkuraya, Fowzan S.

Journal:

Year:

2014

Language:

english

File:

PDF, 1.23 MB

english, 2014

131

Genetics and genomic medicine in Saudi Arabia

Alkuraya, Fowzan S.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 566 KB

english, 2014

132

Homozygous truncation of SIX6 causes complex microphthalmia in humans

Aldahmesh, M A, Khan, A O, Hijazi, H, Alkuraya, F S

Journal:

Clinical Genetics

Year:

2013

Language:

english

File:

PDF, 611 KB

english, 2013

133

NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility

Alazami, A.M., Alshammari, M.J., Baig, M., Salih, M.A., Hassan, H.H., Alkuraya, F.S.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 699 KB

english, 2014

134

Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome

Patel, N., Salih, M.A., Alshammari, M.J., Abdulwahhab, F., Adly, N., Alzahrani, F., Elgamal, E.A., Elkhashab, H.Y., Al-Qattan, M., Alkuraya, F.S.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 687 KB

english, 2014

135

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

Aldahmesh, M. A., Li, Y., Alhashem, A., Anazi, S., Alkuraya, H., Hashem, M., Awaji, A. A., Sogaty, S., Alkharashi, A., Alzahrani, S., Al Hazzaa, S. A., Xiong, Y., Kong, S., Sun, Z., Alkuraya, F. S.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.07 MB

english, 2014

136

Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience

Journal:

Clinical Genetics

Year:

2013

Language:

english

File:

PDF, 534 KB

english, 2013

137

Human knockout research: new horizons and opportunities

Alkuraya, Fowzan S.

Journal:

Trends in Genetics

Year:

2015

Language:

english

File:

PDF, 593 KB

english, 2015

138

Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation

Khan, Arif O., Aldahmesh, Mohammed A., Al-Ghadeer, Huda, Mohamed, Jawaher Y., Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2012

Language:

english

File:

PDF, 813 KB

english, 2012

139

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

Shamseldin, H. E., Alshammari, M., Al-Sheddi, T., Salih, M. A., Alkhalidi, H., Kentab, A., Repetto, G. M., Hashem, M., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 1.16 MB

english, 2012

140

Methylation-Specific Multiplex-Ligation-Dependent Probe Amplification as a Rapid Molecular Diagnostic Tool for Pseudohypoparathyroidism Type 1b

Alsum, Zobaida, Safieh, Leen Abu, Nygren, Anders O.H., Al-Hamed, Mohammed A., Alkuraya, Fowzan S.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 13.39 MB

english, 2010

141

The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in ADAMTS18

Aldahmesh, Mohammed A., Alshammari, Muneera J., Khan, Arif O., Mohamed, Jawahir Y., Alhabib, Fatimah A., Alkuraya, Fowzan S.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.43 MB

english, 2013

142

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis

Awad, S., Al-Dosari, M. S., Al-Yacoub, N., Colak, D., Salih, M. A., Alkuraya, F. S., Poizat, C.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 996 KB

english, 2013

143

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

Shaheen, R., Alazami, A. M., Alshammari, M. J., Faqeih, E., Alhashmi, N., Mousa, N., Alsinani, A., Ansari, S., Alzahrani, F., Al-Owain, M., Alzayed, Z. S., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 491 KB

english, 2012

144

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping

Abu Safieh, L., Aldahmesh, M. A., Shamseldin, H., Hashem, M., Shaheen, R., Alkuraya, H., Al Hazzaa, S. A. F., Al-Rajhi, A., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 640 KB

english, 2010

145

Recessive Mutations in LEPREL1 Underlie a Recognizable Lens Subluxation Phenotype

Khan, Arif O., Aldahmesh, Mohammed A., Alsharif, Hadeel, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 265 KB

english, 2015

146

Molecular Characterization of Newborn Glaucoma Including a Distinct Aniridic Phenotype

Khan, Arif O., Aldahmesh, Mohammed A., Al-Abdi, Lama, Mohamed, Jawahir Y., Hashem, Mais, Al-Ghamdi, Ismael, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2011

Language:

english

File:

PDF, 729 KB

english, 2011

147

Homozygous null mutation in ODZ3 causes microphthalmia in humans

Aldahmesh, Mohammed A., Mohammed, Jawahir Y., Al-Hazzaa, Selwa, Alkuraya, Fowzan S.

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 654 KB

english, 2012

148

Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

Shamseldin, Hanan E., Swaid, Abdulrahman, Alkuraya, Fowzan S.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 475 KB

english, 2013

149

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome

Aldahmesh, M. A., Khan, A. O., Mohamed, J. Y., Alkuraya, H., Ahmed, H., Bobis, S., Al-Mesfer, S., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 661 KB

english, 2011

150

Autozygome decoded

Alkuraya, Fowzan S.

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 354 KB

english, 2010