Publications by authors named "AlBandary AlBakheet"

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Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.
Hanan AlQudairy, Mohammad A AlMuhaizea, Mohamed Tohary, Maissa Alfuraih, Aisha Alnafisah, Albandary Albakheet

Orphanet J Rare Dis· August 2025

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Case report: Clinical and genetic characterization of a novel variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings.
Mustafa A Salih, Albandary AlBakheet, Rawan Almass, Ahlam A A Hamed, Ali AlOdaib

Front Psychiatry· December 2024

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A novel missense mutation in causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4.
Zuhair Al-Hassnan, Mazhor AlDosary, Aljouhra AlHargan, Hanan AlQudairy, Rawan Almass, Albandary AlBakheet

Front Psychiatry· October 2024

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Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.
Ruqaiah Altassan, Hanan AlQudairy, Sarah AlJebreen, Mohammed AlMuhaizea, Hindi Al-Hindi, Albandary Albakheet

Am J Med Genet A· April 2024

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Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.
AlBandary Albakheet, Duaa Almuallami, Rawan Almass, Alya Qari, Rosan Kenana

Clin Dysmorphol· April 2024

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Clinical, radiological, and genetic characterization of variants in Saudi families: Genotype phenotype correlation and brief review of the literature.
Hanan AlQudairy, Hesham AlDhalaan, Sarah AlRuways, Nouf AlMutairi, Maha AlNakiyah, Albandary AlBakheet

Front Pediatr· February 2023

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Detailed genetic and clinical analysis of a novel variant in : Case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome.
Albandary AlBakheet, Hanan AlQudairy, Joud Alkhalifah, Sheikhah Almoaily, Namik Kaya

Front Genet· January 2023

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Global Transcriptional Profiling of Granulosa Cells from Polycystic Ovary Syndrome Patients: Comparative Analyses of Patients with or without History of Ovarian Hyperstimulation Syndrome Reveals Distinct Biomarkers and Pathways.
Maha H Daghestani, Huda A Alqahtani, AlBandary AlBakheet, Mashael Al Deery, Khalid A Awartani

J Clin Med· November 2022

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A Novel Homozygous Founder Variant of in Two Consanguineous Saudi Families.
Mazhor Aldosary, Maysoon Alsagob, Hanan AlQudairy, Ana C González-Álvarez, Stefan T Arold, AlBandary AlBakheet

Cells· October 2022

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Genetics of ataxia telangiectasia in a highly consanguineous population.
Mohammed A Al-Muhaizea, Hanouf Aldeeb, Rawan Almass, Hadeel Jaber, Felwa Binhumaid

Ann Hum Genet· January 2022

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Exome Sequencing Reveals Novel Variants in Saudi Patients with Congenital Titinopathies.
Mustafa A Salih, Muddathir H Hamad, Marco Savarese, Ibrahim A Alorainy, Abdullah S Al-Jarallah

Genet Test Mol Biomarkers· December 2021

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A Novel Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.
Hesham Aldhalaan, Albandary AlBakheet, Sarah AlRuways, Nouf AlMutairi, Maha AlNakiyah

Genes (Basel)· December 2021

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SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.
Mazhor Aldosary, Shahad Baselm, Maha Abdulrahim, Rawan Almass, Maysoon Alsagob, Albandary AlBakheet

JIMD Rep· July 2021

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Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.
Albandary Al-Bakheet, Mohamed Tohary, Sameena Khan, Aziza Chedrawi, Alaa Edrees

Clin Genet· May 2021

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Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Leslie E Sanderson, Kristina Lanko, Maysoon Alsagob, Rawan Almass, Nada Al-Ahmadi, Albandary AlBakheet

Brain· April 2021

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Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome.
Mohammad A Al-Muhaizea, Laila AlQuait, Afnan AlRasheed, Shoug AlHarbi, Anoud Abdulmalik Albader, Albandary Albakheet

Neuromuscul Disord· July 2020

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Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15).
Mohammed Z Seidahmed, Muddathir H Hamad, Albandary AlBakheet, Salah A Elmalik, Abdulmajeed AlDrees

BMC Neurol· May 2020

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Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.
Mazhor Aldosary, AlBandary Al-Bakheet, Hesham Al-Dhalaan, Rawan Almass, Maysoon Alsagob

OMICS· March 2020

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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.
Maysoon Alsagob, Mustafa A Salih, Muddathir H A Hamad, Yusra Al-Yafee, Jawaher Al-Zahrani

Mol Cytogenet· May 2019

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Identification of novel genomic imbalances in Saudi patients with congenital heart disease.
Zuhair N Al-Hassnan, Waad Albawardi, Faten Almutairi, Rawan AlMass, Albandary AlBakheet

Mol Cytogenet· January 2018

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deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.
Namik Kaya, Maysoon Alsagob, Maria Cristina D'Adamo, Albandary Al-Bakheet, Sonia Hasan

J Med Genet· November 2016

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Age-specific gene expression signatures for breast tumors and cross-species conserved potential cancer progression markers in young women.
Dilek Colak, Asmaa Nofal, Albandary Albakheet, Maimoona Nirmal, Hatim Jeprel

PLoS One· December 2013

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Breast stromal fibroblasts from histologically normal surgical margins are pro-carcinogenic.
Maha A Al-Rakan, Dilek Colak, Siti-Faujiah Hendrayani, Albandary Al-Bakheet, Falah H Al-Mohanna

J Pathol· December 2013

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Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
Moeenaldeen D Al-Sayed, Hamad Al-Zaidan, Albandary Albakheet, Hana Hakami, Rosan Kenana

Am J Hum Genet· October 2013

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A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.
AlBandary AlBakheet, Aliya Qari, Dilek Colak, Anas Rasheed, Namik Kaya

Gene· September 2013

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