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51

Phenotypic expansion of OTUD6B ârelated syndrome

Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

Language:

english

File:

PDF, 601 KB

english, 2020

52

A novel mutation in PRDM5 in brittle cornea syndrome

MA Aldahmesh, JY Mohamed, FS Alkuraya

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 574 KB

english, 2012

53

Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting

Irfan Saadi, Fowzan S. Alkuraya, Stephen S. Gisselbrecht, Wolfram Goessling, Resy Cavallesco, Annick Turbe-Doan, Aline L. Petrin, James Harris, Ursela Siddiqui, Arthur W. Grix Jr., Hanne D. Hove, Phil

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 2.41 MB

english, 2011

54

A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome

K Steindl, AM Alazami, KP Bhatia, JT Wuerfel, D Petersen, R Cartolari, G Neri, C Klein, B Mongiardo, FS Alkuraya, SA Schneider

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 588 KB

english, 2010

55

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

56

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

57

NECAP1 loss of function leads to a severe infantile epileptic encephalopathy

Alazami, A. M., Hijazi, H., Kentab, A. Y., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 608 KB

english, 2014

58

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

Shaheen, R., Schmidts, M., Faqeih, E., Hashem, A., Lausch, E., Holder, I., Superti-Furga, A., Mitchison, H. M., Almoisheer, A., Alamro, R., Alshiddi, T., Alzahrani, F., Beales, P. L., Alkuraya, F. S.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 907 KB

english, 2015

59

Mutations in TMEM231 cause Meckel-Gruber syndrome

Shaheen, R., Ansari, S., Mardawi, E. A., Alshammari, M. J., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 255 KB

english, 2013

60

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans

Shamseldin, Hanan E., Smith, Laura L., Kentab, Amal, Alkhalidi, Hisham, Summers, Brady, Alsedairy, Haifa, Xiong, Yong, Gupta, Vandana A., Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 5.36 MB

english, 2016

61

Tufting Enteropathy and Chronic Arthritis: A Newly Recognized Association With a Novel EpCAM Gene Mutation

Al-Mayouf, Sulaiman M, Alswaied, Nahla, Alkuraya, Fowzan S, AlMehaidib, Ali, Faqih, Mosa

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2009

Language:

english

File:

PDF, 299 KB

english, 2009

62

Joint laxity in homozygotes for severe POU1F1 mutations

Shamseldin, Hanan E., Maddirevula, Sateesh, Nabil, Amira, Al-Fadhil, Saeed, Al Tala, Saeed, Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 394 KB

english, 2016

63

Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2

Maddirevula, Sateesh, Coskun, Serdar, Alhassan, Saad, Elnour, Atif, Alsaif, Hessa S., Ibrahim, Niema, Abdulwahab, Firdous, Arold, Stefan T., Alkuraya, Fowzan S.

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.11 MB

english, 2017

64

Mutational Spectrum of SLC4A11 in Autosomal Recessive CHED in Saudi Arabia

Aldahmesh, Mohammed A., Khan, Arif O., Meyer, Brian F., Alkuraya, Fowzan S.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2009

Language:

english

File:

PDF, 186 KB

english, 2009

65

Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies

Unlu, Gokhan, Qi, Xinzi, Gamazon, Eric R., Melville, David B., Patel, Nisha, Rushing, Amy R., Hashem, Mais, Al-Faifi, Abdullah, Chen, Rui, Li, Bingshan, Cox, Nancy J., Alkuraya, Fowzan S., Knapik, Ela

Journal:

Nature Medicine

Year:

2020

File:

PDF, 20.91 MB

2020

66

Here and now

Alkuraya, Ibrahim F.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 349 KB

2020

67

Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenita

Altawil, Lama, Alshihry, Hind, Ahmed, Hala, Shamseldin, Hanan E., Alkuraya, Fowzan

Journal:

JAAD Case Reports

Year:

2020

File:

PDF, 663 KB

2020

68

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3)

Alsmadi, Osama, Meyer, Brian F, Alkuraya, Fowzan, Wakil, Salma, Alkayal, Fadi, Al-Saud, Haya, Ramzan, Khushnooda, Al-Sayed, MoeenAldeen

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 310 KB

english, 2008

69

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

70

Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism

Shaheen, R., Al Tala, S., Almoisheer, A., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 806 KB

english, 2014

71

Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?

Sewairi, Wafaa, Assiri, Abdulrahman, Patel, Nisha, Alhashem, Amal, Alkuraya, Fowzan S

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 846 KB

english, 2016

72

360. Genotype/Phenotype Correlation of Cellular Function and AAV-Mediated Gene Delivery to Treat Xeroderma Pigmentosum - Cockayne Syndrome (XP - CS)

Rizzo, Skylar, Donate, Amy L., Jones, Michael, Manko, Kelsey, Santostefano, Katherine E., Terada, Nao, Alkuraya, Fowzan S., Kang, Peter B., Pacak, Christina A.

Journal:

Molecular Therapy

Year:

2016

Language:

english

File:

PDF, 337 KB

english, 2016

73

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

Shaheen, Ranad, Tasak, Monika, Maddirevula, Sateesh, Abdel-Salam, Ghada M. H., Sayed, Inas S. M., Alazami, Anas M., Al-Sheddi, Tarfa, Alobeid, Eman, Phizicky, Eric M., Alkuraya, Fowzan S.

Journal:

Year:

2019

Language:

english

File:

PDF, 2.43 MB

english, 2019

74

DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification

Lentini, Jenna M., Alsaif, Hessa S., Faqeih, Eissa, Alkuraya, Fowzan S., Fu, Dragony

Journal:

Nature Communications

Year:

2020

File:

PDF, 3.02 MB

2020

75

Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

Anas M. Alazami, Dorota Monies, Brian F. Meyer, Fatema Alzahrani, Mais Hashem, Mustafa A. Salih, Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 335 KB

english, 2012

76

A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for “ring chromosome 2 syndrome”

Fowzan S. Alkuraya, Virginia E. Kimonis, Laura Holt, Joyce L. Murata-Collins

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 109 KB

english, 2005

77

Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W)

Khan, Arif O., Safieh, Leen Abu, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2010

Language:

english

File:

PDF, 1004 KB

english, 2010

78

Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma

Lachke, S. A., Alkuraya, F. S., Kneeland, S. C., Ohn, T., Aboukhalil, A., Howell, G. R., Saadi, I., Cavallesco, R., Yue, Y., Tsai, A. C.-H., Nair, K. S., Cosma, M. I., Smith, R. S., Hodges, E., AlFadh

Journal:

Year:

2011

Language:

english

File:

PDF, 8.92 MB

english, 2011

79

'Cone dystrophy with supranormal rod response' in children

Khan, A. O., Alrashed, M., Alkuraya, F. S.

Journal:

British Journal of Ophthalmology

Year:

2012

Language:

english

File:

PDF, 503 KB

english, 2012

80

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6)

Patel, N., Smith, L. L., Faqeih, E., Mohamed, J., Gupta, V. A., Alkuraya, F. S.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.20 MB

english, 2014

81

Intrafamilial clinical heterogeneity of CSPP1 -related ciliopathy

Ben-Omran, Tawfeg, Alsulaiman, Reem, Kamel, Hussein, Shaheen, Ranad, Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

File:

PDF, 2.40 MB

2015

82

Phenotypic Characterization of KCTD3 -related Developmental Epileptic Encephalopathy

Faqeih, E.A., Almannai, M., Saleh, M.M., AlWadie, A.H., Samman, M.M., Alkuraya, F.S.

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.18 MB

english, 2018

83

Evolution and Impact of Subclonal Mutations in Papillary Thyroid Cancer

Masoodi, Tariq, Siraj, Abdul K., Siraj, Sarah, Azam, Saud, Qadri, Zeeshan, Parvathareddy, Sandeep K., Al-Sobhi, Saif S., AlDawish, Mohammed, Alkuraya, Fowzan S., Al-Kuraya, Khawla S.

Journal:

The American Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 3.05 MB

english, 2019

84

Two further cases of polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, caused by a truncating variant in STRADA

Alsaif, Hessa S., Khashab, Heba Youssef E. L., Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 852 KB

2020

85

X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype

I. M. Anselm, F. S. Alkuraya, G. S. Salomons, C. Jakobs, A. B. Fulton, M. Mazumdar, M. Rivkin, R. Frye, T. Young Poussaint, D. Marsden

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 249 KB

english, 2006

86

Dorsal dimelia: report of two cases with an emphasis on the variation of phenotypic expression and a search for candidate causative genes

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

Journal:

The Journal of Hand Surgery: European Volume

Year:

2010

Language:

english

File:

PDF, 545 KB

english, 2010

87

An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus

Carbonella, A., Mancano, G., Gremese, E., Alkuraya, F. S., Patel, N., Gurrieri, F., Ferraccioli, G.

Journal:

Year:

2016

Language:

english

File:

PDF, 415 KB

english, 2016

88

GLI3-related polydactyly: a review

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

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.18 MB

english, 2017

89

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F, Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S, Toribio, Jan

Journal:

Human Molecular Genetics

Year:

2019

File:

PDF, 1.80 MB

2019

90

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus

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

Journal:

Year:

2012

Language:

english

File:

PDF, 189 KB

english, 2012

91

Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

Ranad Shaheen, Eissa Faqeih, Asma Sunker, Heba Morsy, Tarfa Al-Sheddi, Hanan E. Shamseldin, Nouran Adly, Mais Hashem, Fowzan S. Alkuraya.

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 709 KB

english, 2011

92

Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism

Anas M. Alazami, Mohammad Al-Owain, Fatema Alzahrani, Taghreed Shuaib, Hussain Al-Shamrani, Yahya H. Al-Falki, Saleh M. Al-Qahtani, Tarfa Alsheddi, Dilek Colak, Fowzan S. Alkuraya

Journal:

Year:

2012

Language:

english

File:

PDF, 292 KB

english, 2012

93

Saudi genetic ophthalmology research: The local and global impact

Fowzan S. Alkuraya

Journal:

Saudi Journal of Ophthalmology

Year:

2010

Language:

english

File:

PDF, 280 KB

english, 2010

94

Weaver syndrome and defective cortical development: A rare association

Al-Salem, Ahmed, Alshammari, Muneera J., Hassan, Hamdy, Alazami, Anas M., Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 161 KB

english, 2013

95

SUMO1 Haploinsufficiency Leads to Cleft Lip and Palate

Alkuraya, F. S.

Journal:

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

96

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

97

LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome

Alzahrani, Fatema, Al Hazzaa, Selwa A., Tayeb, Hamsa, Alkuraya, Fowzan S.

Journal:

Year:

2015

Language:

english

File:

PDF, 472 KB

english, 2015

98

Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit

Hijazi, H., Salih, M.A., Hamad, M.H.A., Hassan, H.H., Salih, S.B.M., Mohamed, K.A., Mukhtar, M.M., Karrar, Z.A., Ansari, S., Ibrahim, N., Alkuraya, F.S.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 1.01 MB

english, 2015

99

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3

Alazami, A. M., Alzahrani, F., Bohlega, S., Alkuraya, F. S.

Journal:

Year:

2014

Language:

english

File:

PDF, 400 KB

english, 2014

100

Genomic analysis of primordial dwarfism reveals novel disease genes

Shaheen, R., Faqeih, E., Ansari, S., Abdel-Salam, G., Al-Hassnan, Z. N., Al-Shidi, T., Alomar, R., Sogaty, S., Alkuraya, F. S.

Journal:

Genome Research

Year:

2014

Language:

english

File:

PDF, 1.58 MB

english, 2014

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