M. Alsagob

发表

Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype

N. Kaya, D. Çolak, D. Monies, 2021, Clinical genetics.

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.

Olfat Al-Harazi, N. Kaya, D. Çolak, 2020, Omics : a journal of integrative biology.

First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

N. Kaya, D. Çolak, M. Salih, 2019, Molecular Cytogenetics.

ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder

Olfat Al-Harazi, N. Kaya, D. Çolak, 2014, Journal of Medical Genetics.

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3

M. Zou, Yufei Shi, B. Meyer, 2018, PloS one.

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families

S. Arold, N. Kaya, D. Çolak, 2022, Cells.

Molecular and clinical spectra of FBXL4 deficiency

W. Chan, H. Prokisch, F. Alkuraya, 2017, Human mutation.

Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.

Robert W. Taylor, N. Kaya, B. Plecko, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

J. Rosenfeld, D. Trabzuni, S. Arold, 2021, Brain : a journal of neurology.

A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature

N. Kaya, D. Çolak, A. Alodaib, 2017, The Cerebellum.

Identification of novel genomic imbalances in Saudi patients with congenital heart disease

N. Kaya, D. Çolak, B. Levy, 2018, Molecular Cytogenetics.

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

P. Striano, H. Prokisch, Matteo P. Ferla, 2022, Human mutation.

A molecular study of pediatric pilomyxoid and pilocytic astrocytomas: Genome-wide copy number screening, retrospective analysis of clinicopathological features and long-term clinical outcome

N. Kaya, D. Çolak, E. Alshail, 2023, Frontiers in Oncology.

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

K. Kandaswamy, E. Aronica, P. Bauer, 2019, Acta Neuropathologica.

First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

N. Kaya, D. Çolak, M. Salih, 2019, Molecular Cytogenetics.

KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

N. Kaya, D. Çolak, M. D’Adamo, 2016, Journal of Medical Genetics.

Genetics of ataxia telangiectasia in a highly consanguineous population

N. Kaya, D. Çolak, M. Alrasheed, 2021, Annals of human genetics.

Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination

Nancy T. Malintan, N. Wood, A. Chiriță-Emandi, 2019, European journal of neurology.

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

F. Alkuraya, N. Kaya, Z. Al-Hassnan, 2018, American journal of medical genetics. Part A.

Genetics of autism spectrum disorder: an update on copy number variations leading to autism in the next generation sequencing era.

N. Kaya, D. Çolak, M. Alsagob, 2015, Discovery medicine.

SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

Robert W. Taylor, N. Kaya, D. Çolak, 2021, JIMD reports.

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

A. Pagnamenta, L. Hoefsloot, S. Arold, 2023, Acta Neuropathologica.

Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies.

N. Kaya, D. Çolak, B. Udd, 2021, Genetic testing and molecular biomarkers.

A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature

N. Kaya, D. Çolak, A. Alodaib, 2018, The Cerebellum.

Identification of novel genomic imbalances in Saudi patients with congenital heart disease

N. Kaya, D. Çolak, B. Levy, 2018, Molecular Cytogenetics.

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

K. Kandaswamy, E. Aronica, P. Bauer, 2019, bioRxiv.