H. Shamseldin

发表

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort

J. Shendure, Martin Kircher, R. Daza, 2015, Genetics in Medicine.

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

F. Alkuraya, Y. Xiong, Vandana A Gupta, 2015, Human Genetics.

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

F. Alkuraya, G. Repetto, M. Salih, 2012, Journal of Medical Genetics.

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Mohamed Abouelhoda, Yong Xiong, Fowzan S Alkuraya, 2015, Cell reports.

Molecular autopsy in maternal–fetal medicine

F. Alkuraya, E. Faqeih, T. Ben-Omran, 2017, Genetics in Medicine.

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.

F. Alkuraya, J. Gleeson, E. Faqeih, 2016, American journal of human genetics.

GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder

F. Alkuraya, M. Alfadhel, Vandana Gupta, 2016, Human Genetics.

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.

F. Alkuraya, J. Majewski, F. Bernier, 2015, American journal of human genetics.

Expanding the phenotype of SLC25A42‐associated mitochondrial encephalomyopathy

F. Alkuraya, W. Craigen, E. Faqeih, 2018, Clinical genetics.

Lethal variants in humans: lessons learned from a large molecular autopsy cohort

F. Alkuraya, Hiroyuki Kuwahara, Lama Alabdi, 2021, Genome medicine.

A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

Daniel T. Montoro, D. Sabatini, H. Omran, 2020, Nature Medicine.

Mitochondrial “dysmorphology” in variant classification

R. Sougrat, F. Alkuraya, A. Alhashem, 2021, Human Genetics.

Molecular characterization of retinitis pigmentosa in Saudi Arabia

H. Khalak, F. Alkuraya, Arif O. Khan, 2009, Molecular vision.

MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy

F. Alkuraya, J. Jans, N. Verhoeven-Duif, 2019, Human Genetics.

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation

F. Alkuraya, M. Elfaki, H. Shamseldin, 2012, Journal of Medical Genetics.

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

F. Alkuraya, A. Alsultan, H. Shamseldin, 2013, Blood.

Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches

Thomas M. Kitzler, S. Mane, H. Rehm, 2020, Kidney international reports.

A null mutation in TNIK defines a novel locus for intellectual disability

F. Alkuraya, S. Anazi, K. Al-Rubeaan, 2016, Human Genetics.

Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms.

F. Alkuraya, D. Çolak, E. Abboud, 2011, American journal of human genetics.

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

F. Alkuraya, Maha A Faden, H. Shamseldin, 2011, Journal of Medical Genetics.

ANKS3 is mutated in a family with autosomal recessive laterality defect

F. Alkuraya, G. Walz, H. Shamseldin, 2016, Human Genetics.

Immunologic reconstitution following hematopoietic stem cell transplantation despite lymph node paucity in NF-κB-inducing kinase deficiency.

K. Schwarz, A. Schulz, R. Geha, 2018, The Journal of allergy and clinical immunology.

An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia

F. Alkuraya, R. Chivukula, M. Alsaadi, 2020, Human Genetics.

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

H. Omran, F. Alkuraya, P. Pennekamp, 2014, Nature Genetics.

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

F. Alkuraya, D. Çolak, Arif O. Khan, 2017, American journal of human genetics.

A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder

F. Alkuraya, E. Faqeih, F. Al-Mohanna, 2017, Brain : a journal of neurology.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

A. Pagnamenta, J. Lupski, D. Misceo, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia

F. Alkuraya, R. Chivukula, M. Alsaadi, 2020, Human Genetics.

A null mutation in TNIK defines a novel locus for intellectual disability

F. Alkuraya, S. Anazi, K. Al-Rubeaan, 2016, Human Genetics.

Novel copy number variants and major limb reduction malformation: Report of three cases

F. Alkuraya, E. Faqeih, S. Anazi, 2016, American journal of medical genetics. Part A.

Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.

F. Alkuraya, R. Shaheen, A. Rajab, 2013, American journal of human genetics.

Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenita

F. Alkuraya, H. Shamseldin, Lama Altawil, 2020, JAAD case reports.

The morbid genome of ciliopathies: an update

F. Alkuraya, M. Salih, A. Alfares, 2020, Genetics in Medicine.

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

Turki M. Sobahy, F. Alkuraya, M. Abouelhoda, 2016, Genetics in Medicine.

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

Marni J. Falk, T. Wieland, T. Meitinger, 2013, American journal of human genetics.

GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition

F. Alkuraya, K. Martemyanov, Ahmed S. Alenizi, 2016, Genome Biology.

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

N. Guex, A. Reymond, I. Xenarios, 2017, American journal of human genetics.

A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation

F. Alkuraya, H. Shamseldin, Fatimah A Alhabib, 2014, Journal of Medical Genetics.

Autozygosity Mapping with Exome Sequence Data

D. Bonthron, F. Alkuraya, S. Bhaskar, 2013, Human mutation.

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

F. Alkuraya, Hiroyuki Kuwahara, Xin Gao, 2020, Genome Biology.

Autozygome and high throughput confirmation of disease genes candidacy

F. Alkuraya, T. Ben-Omran, M. Alfadhel, 2018, Genetics in Medicine.

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update

A. Dudley, F. Alkuraya, Russell S. Lo, 2020, Frontiers in Genetics.

Perturbation of the consensus activation site of endothelin‐3 leads to Waardenburg syndrome type IV

F. Alkuraya, H. Shamseldin, Z. Rahbeeni, 2010, American journal of medical genetics. Part A.

PLXNA2 as a candidate gene in patients with intellectual disability

F. Alkuraya, N. Ewida, H. Shamseldin, 2021, American journal of medical genetics. Part A.

Expanding the genetic heterogeneity of intellectual disability

F. Alkuraya, S. Arold, H. Houlden, 2017, Human Genetics.

The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population

F. Alkuraya, N. Kaya, S. Anazi, 2014, Genetics in Medicine.

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.

T. Meitinger, T. Strom, P. Lichtner, 2020, American journal of human genetics.

Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma

Fowzan S Alkuraya, Martha L Bulyk, Anton Aboukhalil, 2011, Science.

Lethal variants in humans: lessons learned from a large molecular autopsy cohort

M. Temsah, F. Alkuraya, W. Newman, 2021, Genome Medicine.

The many faces of peroxisomal disorders: Lessons from a large Arab cohort

F. Alkuraya, E. Faqeih, S. Anazi, 2019, Clinical genetics.

Expanding the phenome and variome of skeletal dysplasia

S. Kapoor, F. Alkuraya, E. Faqeih, 2018, Genetics in Medicine.

Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB

F. Alkuraya, Z. Alsum, Nouf Alkhamis, 2020, Frontiers in Pediatrics.

Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

F. Alkuraya, E. Faqeih, R. Shaheen, 2016, Genetics in Medicine.

Molecular autopsy by proxy in preconception counseling

F. Alkuraya, M. Alfadhel, N. Adly, 2021, Clinical genetics.

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.

F. Alkuraya, S. Megason, E. Faqeih, 2012, American journal of human genetics.

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

F. Alkuraya, Hiroyuki Kuwahara, Ramzan Umarov, 2020, Genome Biology.

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.

Colin A. Johnson, N. Katsanis, F. Alkuraya, 2014, American journal of human genetics.

F. Alkuraya, D. Allingham-Hawkins, A. El-Hattab, 2018, Clinical genetics.

Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency.

A. Schulz, R. Geha, J. Chou, 2019, The Journal of allergy and clinical immunology.

Immunodeficiency and Epstein Barr virus induced lymphoproliferation caused by 4-1BB deficiency

Faisal, A. Schulz, R. Geha, 2019 .

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

F. Alkuraya, Y. Xiong, Vandana A Gupta, 2015, Human Genetics.

Confirming the recessive inheritance of PERP‐related erythrokeratoderma

F. Alkuraya, N. Patel, H. Shamseldin, 2020, Clinical genetics.

Mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

H. Peeters, M. Bitner-Glindzicz, R. Hennekam, 2011, Nature Genetics.

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.

F. Alkuraya, E. Faqeih, R. Shaheen, 2011, American journal of human genetics.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

NUP214 deficiency causes severe encephalopathy and microcephaly in humans

F. Alkuraya, H. Shamseldin, N. Ibrahim, 2019, Human Genetics.

Joint laxity in homozygotes for severe POU1F1 mutations

F. Alkuraya, H. Shamseldin, S. Maddirevula, 2016, American journal of medical genetics. Part A.

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

F. Alkuraya, W. Kurdi, O. Khalifa, 2015, Genome Biology.

A lethal phenotype associated with tissue plasminogen deficiency in humans

F. Alkuraya, A. Alsultan, H. Shamseldin, 2016, Human Genetics.

Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

F. Alkuraya, H. Shamseldin, Abdulrahman Swaid, 2012, Genetics in Medicine.

GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder

F. Alkuraya, M. Alfadhel, Vandana Gupta, 2016, Human Genetics.

Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36

F. Alkuraya, H. Shamseldin, M. Al-Qattan, 2013, American journal of medical genetics. Part A.

A lethal neonatal phenotype of mitochondrial short‐chain enoyl‐CoA hydratase‐1 deficiency

R. Rodenburg, F. Alkuraya, M. Alfadhel, 2017, Clinical genetics.

GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition

F. Alkuraya, K. Martemyanov, Ahmed S. Alenizi, 2016, Genome Biology.

Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans

F. Alkuraya, E. Faqeih, A. Al-Hussaini, 2020 .

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.

N. Brown, S. Ellard, M. Broly, 2022, American journal of human genetics.

Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy

Robert W. Taylor, K. Bhatia, F. Alkuraya, 2021, Movement disorders clinical practice.

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

H. Khalak, F. Alkuraya, N. Kaya, 2012, Genetics in Medicine.

A lethal phenotype associated with tissue plasminogen deficiency in humans

F. Alkuraya, A. Alsultan, H. Shamseldin, 2016, Human Genetics.

NUP214 deficiency causes severe encephalopathy and microcephaly in humans

F. Alkuraya, H. Shamseldin, N. Ibrahim, 2019, Human Genetics.

KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia

F. Alkuraya, S. Arold, O. Khalifa, 2016, Human Genetics.

A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

Daniel T. Montoro, D. Sabatini, H. Omran, 2019, Nature Medicine.

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

F. Alkuraya, H. Shamseldin, F. Alzahrani, 2023, Nature communications.

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

F. Alkuraya, R. Shaheen, M. Aldahmesh, 2009, Journal of medical genetics.

Study of consanguineous populations can improve the annotation of SNP databases.

F. Alkuraya, M. Al-Dosari, H. Shamseldin, 2011, European journal of medical genetics.

GLI3‐related polydactyly: a review

F. Alkuraya, M. Salih, H. Shamseldin, 2017, Clinical genetics.

PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis

F. Alkuraya, N. Alhathal, Nada Derar, 2023, Human Genetics.

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

F. Alkuraya, R. Shaheen, M. Aldahmesh, 2009, Journal of Medical Genetics.

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission

P. Schlattmann, K. Kaila, F. Alkuraya, 2023, Brain : a journal of neurology.

Expanding the phenome and variome of skeletal dysplasia

S. Kapoor, F. Alkuraya, E. Faqeih, 2018, Genetics in Medicine.

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

M. State, F. Alkuraya, S. Arold, 2017, Molecular Psychiatry.

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

M. Temsah, F. Alkuraya, Y. Xiong, 2015, Cell reports.

The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction.

F. Alkuraya, A. Jelin, T. Sparks, 2023, Prenatal diagnosis.

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

F. Alkuraya, E. Faqeih, K. Khabar, 2023, Genome medicine.