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1. Full Text Reply to “an extremely severe phenotype due to WDR81 nonsense mutations”
by Shaheen, Ranad and Alkuraya, Fowzan S
Annals of Neurology, ISSN 0364-5134, 10/2017, Volume 82, Issue 4, pp. 651 - 651
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2. Full Text Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation
by Shamseldin, Hanan E and Elfaki, Mohamed and Alkuraya, Fowzan S
Journal of Medical Genetics, ISSN 0022-2593, 03/2012, Volume 49, Issue 3, pp. 184 - 186
Background Fanconi anaemia (FA) is a group of disorders characterised by progressive bone marrow failure and a characteristic but variable craniofacial and... 
MICE | HOMOLOGOUS RECOMBINATION | STABILITY | GENETICS & HEREDITY | Humans | Child, Preschool | Male | DNA-Binding Proteins - genetics | Exome | Fanconi Anemia - diagnosis | DNA Mutational Analysis | Abnormalities, Multiple - diagnosis | Base Sequence | Consanguinity | Fanconi Anemia - genetics | Abnormalities, Multiple - genetics | Chromosome Breakage | Fibroblasts | Genotype & phenotype | Mutation | Chromosomes | Genes | Deoxyribonucleic acid--DNA | Index Medicus
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3. Full Text Reply to "An extremely severe phenotype due to WDR81 nonsense mutations"
by Shaheen, R and Alkuraya, FS
ANNALS OF NEUROLOGY, ISSN 0364-5134, 10/2017, Volume 82, Issue 4, pp. 651 - 651
NEUROSCIENCES | CLINICAL NEUROLOGY | Phenotype | Nerve Tissue Proteins | Codon, Nonsense | Hydrocephalus | Humans | Mutation | Index Medicus
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4. Full Text Publisher Correction: Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice
by Ali, Asmaa and Mistry, Bhavesh V and Ahmed, Hala A and Abdulla, Razan and Amer, Hassan A and Prince, Abdelbary and Alazami, Anas M and Alkuraya, Fowzan S and Assiri, Abdullah
Scientific reports, ISSN 2045-2322, 08/2018, Volume 8, Issue 1, pp. 11779 - 1
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper. 
Clonal deletion | Gene deletion | Spermatogenesis | Infertility
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5. Full Text PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly
by Shaheen, Ranad and Tasak, Monika and Maddirevula, Sateesh and Abdel-Salam, Ghada M. H and Sayed, Inas S. M and Alazami, Anas M and Al-Sheddi, Tarfa and Alobeid, Eman and Phizicky, Eric M and Alkuraya, Fowzan S
Human Genetics, ISSN 0340-6717, 3/2019, Volume 138, Issue 3, pp. 231 - 239
Pseudouridylation is the most common post-transcriptional modification, wherein uridine is isomerized into 5-ribosyluracil (pseudouridine, Ψ). The resulting... 
Human Genetics | Gene Function | Biomedicine | Metabolic Diseases | Pseudouridylation | Molecular Medicine | Microcephaly | PUS7 | METHYLATION | ADENOSINE-DEAMINASE | TRANSFER-RNA MODIFICATIONS | STABILIZATION | SHORT STATURE | TRANSLATION | SACCHAROMYCES-CEREVISIAE | CELLULAR STRESS | SYNTHASE | 23S RIBOSOMAL-RNA | GENETICS & HEREDITY | Amino Acid Sequence | Genetic Predisposition to Disease | Microcephaly - genetics | Genetic Association Studies | Humans | Microcephaly - diagnosis | Male | Chromosome Mapping | Genes, Recessive | Intellectual Disability - genetics | Whole Exome Sequencing | Pseudouridine - genetics | Phenotype | Pedigree | Adolescent | RNA, Transfer - genetics | Female | Consanguinity | Mutation | Child | Ethylenediaminetetraacetic acid | Genetic aspects | RNA | Hydrogen | Post-transcription | Phenotypes | Yeast | Growth rate | Intellectual disabilities | Frameshift mutation | Base stacking | Gene deletion | Ribonucleic acid--RNA | Hydrogen bonding | Hearing loss | Microencephaly | Clonal deletion | Uridine | Index Medicus
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6. Full Text Human knockouts of PLA2G4A phenocopy NSAID-induced gastrointestinal and renal toxicity
by Maddirevula, Sateesh and Abanemai, Mohammed and Alkuraya, Fowzan S
Gut, ISSN 0017-5749, 09/2016, Volume 65, Issue 9, pp. 1575 - 1577
  The family we describe as well as the one described by Brooke provide a rare opportunity to observe the human knockout phenotype for this gene, which... 
GASTROENTEROLOGY & HEPATOLOGY | Anti-Inflammatory Agents, Non-Steroidal | Helicobacter pylori | Peptic Ulcer Hemorrhage | Humans | Risk Factors | Helicobacter Infections | Peptic Ulcer | Pain | Toxicity | Rodents | Ulcers | Mutation | Kidney diseases | Endoscopy | Siblings | Index Medicus | Abridged Index Medicus
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7. Full Text Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation
by Shamseldin, Hanan E and Faden, Maha A and Alashram, Walid and Alkuraya, Fowzan S
Journal of Medical Genetics, ISSN 0022-2593, 01/2012, Volume 49, Issue 1, pp. 16 - 20
Background Split hand and foot malformation (SHFM) refers to a genetically heterogeneous developmental disorder of the hands and feet that presents as median... 
P63 GENE | LIMB | TRANSLOCATION | RETARDATION | HAND/FOOT MALFORMATION | GENETICS & HEREDITY | CHROMOSOME-7 | LOCUS | EXPRESSION | INTERSTITIAL DELETION | REGION | Limb Deformities, Congenital - genetics | Genetic Association Studies | Humans | Mutation, Missense | Transcription Factors - genetics | Genes, Recessive | Genetic Diseases, X-Linked - diagnosis | Homeodomain Proteins - genetics | Homozygote | Limb Deformities, Congenital - diagnosis | DNA Mutational Analysis | Pedigree | Base Sequence | Conserved Sequence | Female | Genetic Diseases, X-Linked - genetics | Consanguinity | Child | Genetic aspects | Research | Gene mutations | Identification and classification | EEC syndrome | Genotype & phenotype | Mutation | Hearing impairment | Patients | Genes | Defects | Index Medicus
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8. Full Text SUM01 haploinsufficiency leads to cleft lip and palate
by Alkuraya, Fowzan S and Saadi, Irfan and Lund, Jennifer J and Turbe-Doan, Annick and Morton, Cynthia C and Maas, Richard L
Science, ISSN 0036-8075, 09/2006, Volume 313, Issue 5794, p. 1751
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9. Full Text Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia
by Abdel-Salam, Ghada M. H and Mazen, Inas and Eid, Maha and Ewida, Nour and Shaheen, Ranad and Alkuraya, Fowzan S
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 2019, Volume 179, Issue 6, pp. 1053 - 1057
We report two siblings with microcephaly, early infantile onset seizures, and cerebellar vermis hypoplasia, in whom whole exome sequencing revealed a novel... 
microcephaly | cerebellar vermis hypoplasia | HHAT | Nivelon–Nivelon–Mabille syndrome | missense variant | GENE | SONIC HEDGEHOG | MUTATION | GENETICS & HEREDITY | Nivelon-Nivelon-Mabille syndrome | Enzymes | Genomics | Seizures (Medicine) | Hypoplasia | Cerebellum | Microencephaly | Microcephaly | Hedgehog protein | Seizures
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10. Full Text The journey of exome sequencing from disease mutations discovery to clinical genomics
by Alkuraya, Fowzan S and Ku, Chee Seng
Human Genetics, ISSN 0340-6717, 6/2016, Volume 135, Issue 6, pp. 589 - 589
  Issue Title: Special Issue on The journey of exome sequencing from disease mutations discovery to clinical genomics 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | GENETICS & HEREDITY | Medical colleges | Genetic aspects | Epidemiology | Genomics | Cells | Index Medicus
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11. Full Text Human knockouts ofPLA2G4Aphenocopy NSAID-induced gastrointestinal and renal toxicity
by Maddirevula, Sateesh and Abanemai, Mohammed and Alkuraya, Fowzan S
Gut, ISSN 0017-5749, 09/2016, Volume 65, Issue 9, pp. 1575 - 1577
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12. Full Text A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin
by Al Mutairi, Fuad and Alzahrani, Fatema and Ababneh, Farouq and Kashgari, Amna A and Alkuraya, Fowzan S
Annals of Neurology, ISSN 0364-5134, 02/2018, Volume 83, Issue 2, pp. 433 - 436
Neural tube defects (NTDs) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTDs are believed to... 
CHROMATIN REMODELING COMPLEX | PROTEIN | BIOLOGY | CLOSURE | MICE | NEUROSCIENCES | CLINICAL NEUROLOGY | Congenital defects | Neural tube defects | Health risks | Environmental factors | Birth defects | Risk analysis | Risk factors | Chromatin remodeling | Encephalocele | Etiology | Alleles | Exencephaly | Twins | Index Medicus
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13. Full Text KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia
by Shamseldin, Hanan E and Khalifa, Ola and Binamer, Yousef M and Almutawa, Abdulmonem and Arold, Stefan T and Zaidan, Hamad and Alkuraya, Fowzan S
Human Genetics, ISSN 0340-6717, 1/2017, Volume 136, Issue 1, pp. 99 - 105
Ectodermal dysplasia is a highly heterogeneous group of disorders that variably affect the derivatives of the ectoderm, primarily skin, hair, nails and teeth.... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | EPILATION MUTANT MOUSE | CELLS | PROTEIN | 14-3-3-SIGMA | EPIDERMIS | GENETICS & HEREDITY | STRATIFIN | PROLIFERATION | SKIN | P63 | DELTA-NP63-ALPHA | Humans | Middle Aged | Infant | Male | Genetic Variation | Young Adult | Adult | Female | Cell Differentiation | Disease Models, Animal | Amino Acid Sequence | Computational Biology | Chromosome Mapping | Keratinocytes - cytology | Sequence Analysis, DNA | Mice, Knockout | Proteins - genetics | Phenotype | Animals | Proteins - metabolism | Pedigree | Adolescent | Ectodermal Dysplasia - genetics | Mice | Polymorphism, Single Nucleotide | Medical colleges | Disease susceptibility | Skin | Ectodermal dysplasia | Index Medicus
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14. Full Text A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin
: SMARCC1 mutation in an Identical Twin
by Al Mutairi, Fuad and Alzahrani, Fatema and Ababneh, Farouq and Kashgari, Amna A and Alkuraya, Fowzan S
Annals of Neurology, ISSN 0364-5134, 02/2018, Volume 83, Issue 2, pp. 433 - 436
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15. Full Text Confirming the candidacy of THOC6 in the etiology of intellectual disability
by Anazi, Shamsa and Alshammari, Muneera and Moneis, Dorota and Abouelhoda, Mohamed and Ibrahim, Niema and Alkuraya, Fowzan S
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2016, Volume 170, Issue 5, pp. 1367 - 1369
GENETICS & HEREDITY | Intellectual Disability - physiopathology | RNA-Binding Proteins - genetics | Anus, Imperforate - physiopathology | Humans | Intellectual Disability - complications | Male | Mutation | Anus, Imperforate - surgery | Child | Sequence Analysis, DNA | Intellectual Disability - genetics | Index Medicus
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16. Full Text De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome
by Palmer, Elizabeth E and Hong, Seungbeom and Al Zahrani, Fatema and Hashem, Mais O and Aleisa, Fajr A and Jalal Ahmed, Heba M and Kandula, Tejaswi and Macintosh, Rebecca and Minoche, Andre E and Puttick, Clare and Gayevskiy, Velimir and Drew, Alexander P and Cowley, Mark J and Dinger, Marcel and Rosenfeld, Jill A and Xiao, Rui and Cho, Megan T and Yakubu, Suliat F and Henderson, Lindsay B and Guillen Sacoto, Maria J and Begtrup, Amber and Hamad, Muddathir and Shinawi, Marwan and Andrews, Marisa V and Jones, Marilyn C and Lindstrom, Kristin and Bristol, Ruth E and Kayani, Saima and Snyder, Molly and Villanueva, Marıá Mercedes and Schteinschnaider, Angeles and Faivre, Laurence and Thauvin, Christel and Vitobello, Antonio and Roscioli, Tony and Kirk, Edwin P and Bye, Ann and Merzaban, Jasmeen and Jaremko, Łukasz and Jaremko, Mariusz and Sachdev, Rani K and Alkuraya, Fowzan S and Arold, Stefan T
American journal of human genetics, ISSN 0002-9297, 04/2019, Volume 104, Issue 4, pp. 778 - 778
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17. Full Text Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience
by Al-Dewik, Nader and Mohd, Howaida and Al-Mureikhi, Mariam and Ali, Rehab and Al-Mesaifri, Fatma and Mahmoud, Laila and Shahbeck, Noora and El-Akouri, Karen and Almulla, Mariam and Al Sulaiman, Reem and Musa, Sara and Al-Marri, Ajayeb Al-Nabet and Richard, Gabriele and Juusola, Jane and Solomon, Benjamin D and Alkuraya, Fowzan S and Ben-Omran, Tawfeg
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 2019, Volume 179, Issue 6, pp. 927 - 935
Background Clinical exome sequencing (CES) is rapidly becoming the diagnostic test of choice in patients with suspected Mendelian diseases especially those... 
Middle East | Mendelian diseases | clinical exome sequencing | consanguinity | Arab | Qatar | GENETICS & HEREDITY | DIAGNOSTIC YIELD | Genetics | Family | Etiology | Phenotypes | Consanguinity
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18. Full Text A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome
by Al-Qattan, Mohammad M and Maddirevula, Sateesh and Alkuraya, Fowzan S
European Journal of Medical Genetics, ISSN 1769-7212, 2019
Ulnar-mammary syndrome (UMS) is a rare syndromic limb malformation caused by heterozygous mutations in TBX3. The name highlights the two commonly involved body... 
Ulnar-mammary syndrome | Dorsalization | Little finger
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19. Full Text NECAP1 loss of function leads to a severe infantile epileptic encephalopathy
by Alazami, Anas M and Hijazi, Hadia and Kentab, Amal Y and Alkuraya, Fowzan S
Journal of Medical Genetics, ISSN 0022-2593, 2014, Volume 51, Issue 4, pp. 224 - 228
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20. Full Text Natural human knockouts and the era of genotype to phenotype
by Alkuraya, Fowzan S
Genome Medicine, ISSN 1756-994X, 05/2015, Volume 7, Issue 1, pp. 48 - 48
Complete loss of gene function in humans by naturally occurring biallelic loss-of-function mutations (human knockout) is not a new concept. However, the recent... 
GENETICS & HEREDITY | OF-FUNCTION MUTATIONS | Type 2 diabetes | Genetic aspects | Nucleic acids | Genes | Genomics | Medical genetics
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