N. Al-Sannaa

发表

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

K. Kandaswamy, W. Reardon, P. Bauer, 2020, European journal of human genetics : EJHG.

Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008

N. Al-Sannaa, H. Moammar, G. Cheriyan, 2010, Annals of Saudi medicine.

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.

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

Maximilian E. R. Weiss, K. Kandaswamy, K. Lohmann, 2019, American journal of human genetics.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

Influence of Consanguinity on the Pattern of Familial Aggregation of Congenital Cardiovascular Anomalies in an Outpatient Population

M. Seliem, N. Al-Sannaa, I. Bou-Holaigah, 2006, Public Health Genomics.

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

H. Kayserili, Kenneth Lay, A. Bertoli-Avella, 2022, Nature Genetics.

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

J. Lupski, R. Gibbs, S. Jhangiani, 2022, Annals of neurology.

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.

T. Marshall, F. Mancia, A. Bertoli-Avella, 2021, The New England journal of medicine.

A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA

V. Funanage, N. Al-Sannaa, Susan M Kirwin, 2013, Molecular genetics & genomic medicine.

Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.

G. Mortier, N. Al-Sannaa, L. Van Laer, 2020, European journal of medical genetics.

L-2-Hydroxyglutaric aciduria: Identification of ten novel mutations in the L2HGDH gene

H. Omran, M. Topcu, J. Sass, 2008, Journal of Inherited Metabolic Disease.

Rapid development of renal failure following simultaneous liver and kidney transplantation in two siblings with primary hyperoxaluria type I due to c.473C>T(p.Ser158Leu) genotype

A. Alkhunaizi, N. Al-Sannaa, 2021, Journal of Liver Transplantation.

Hyperoxaluria and rapid development of renal failure following a combined liver and kidney transplantation: emphasis on sequential transplantation.

A. Alkhunaizi, N. Al-Sannaa, W. Raslan, 2012, JIMD reports.

Carnitine-acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype.

N. Al-Sannaa, G. Cheriyan, 2010, Saudi medical journal.

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

C. Phornphutkul, C. Goizet, D. Barbouth, 2015, Orphanet Journal of Rare Diseases.

The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia

N. Al-Sannaa, S. Al-Majed, H. Al-Abdulwahed, 2017, Journal of Community Genetics.

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Rolf Schröder, Ahmed Al-Rumayyan, Omid Paknia, 2016, European Journal of Human Genetics.

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

K. Kandaswamy, P. Bauer, F. Alkuraya, 2021, Genetics in Medicine.

Webb–Dattani Syndrome: Report of a Saudi Arabian Family with a Novel Homozygous Mutation in the ARNT2 Gene

M. Menzel, S. Biskup, A. Pepler, 2018, Journal of Pediatric Neurology.

University of Huddersfield Repository Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization identify

S. Knight, P. Beales, B. Keavney, 2022 .

What syndrome is this? Chondroectodermal dysplasia--the Ellis-van Creveld syndrome.

A. Teebi, N. Al-Sannaa, S. Al‐Khenaizan, 2001, Pediatric dermatology.

A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children

K. Kandaswamy, A. Bertoli-Avella, A. Rolfs, 2018, Clinical genetics.

Nail-Patella Syndrome

N. Al-Sannaa, Najla A Al-Dawsari, H. Al-Abdulwahed, 2015, Journal of cutaneous medicine and surgery.

Expanding the clinical and genetic spectra of NKX6‐2‐related disorder

K. Kandaswamy, P. Bauer, A. Bertoli-Avella, 2018, Clinical genetics.

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.

A. Pagnamenta, P. Bauer, Jenny C. Taylor, 2020, American journal of human genetics.

Immune dysregulation caused by homozygous mutations in CBLB

R. Geha, J. Chou, N. Ameziane, 2022, The Journal of clinical investigation.

Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: new acrocraniofacial dysostosis syndrome?

A. Teebi, C. Forrest, N. Al-Sannaa, 2001, American journal of medical genetics.

Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability

P. Bauer, F. Al-Mulla, A. Bertoli-Avella, 2018, European Journal of Human Genetics.

Renal Involvement in Methylmalonic Aciduria

A. Alkhunaizi, N. Al-Sannaa, 2017, Kidney international reports.

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

H. Hakonarson, D. Reinberg, G. Ming, 2023, Nature communications.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

E. Zackai, J. Lupski, T. Strom, 2023, Brain : a journal of neurology.

Carnitine-acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype.

N. Al-Sannaa, G. Cheriyan, 2010, Saudi medical journal.

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.

A. Ormazabal, R. Artuch, M. Dixon, 2023, Brain : a journal of neurology.

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

J. Goodship, S. Twigg, S. McGowan, 2012, American journal of human genetics.

Lysosomal Storage Disorders (LSDs): The Prevalence in the Eastern Province of Saudi Arabia

N. Al-Sannaa, M. Al-Ghamdi, H. Al-Abdulwahed, 2017 .

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.

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

J. Goodship, S. Twigg, O. Gileadi, 2012, American journal of human genetics.