Publications by authors named "Essa Alharby"

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Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects.
Naif A M Almontashiri, Aziza Mushiba, Haya Alruqi, Essa Alharby, Jamil Amjad Hashmi

Clin Genet· April 2025

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ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.
Naif A M Almontashiri, Essa Alharby, Mohammed Saleh, Mohamed Abu-Farha, Ali Alasmari

Clin Genet· February 2025

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CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.
Emmanuelle Szenker-Ravi, Tim Ott, Amirah Yusof, Maya Chopra, Muznah Khatoo, Essa Alharby

Am J Hum Genet· February 2025

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Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
Christopher J Derrick, Emmanuelle Szenker-Ravi, Adrian Santos-Ledo, Ahlam Alqahtani, Amirah Yusof, Essa Alharby

Hum Mol Genet· January 2024

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Biallelic loss of function variant in ZNF808 is associated with non-syndromic neonatal diabetes.
Mohammad Awwad Alqahtani, Saleh M Al-Qahtani, Yahya H Al-Falki, Essa Alharby, Obaid Mohammed Albulym

Clin Genet· October 2023

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Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Eissa A Faqeih, Malak Ali Alghamdi, Marwa A Almahroos, Essa Alharby, Makki Almuntashri

Genet Med· February 2023

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A Biallelic Variant in Is Associated With Neurodevelopmental Disorder and Growth Retardation.
Norah Alsaleh, Amal Alhashem, Brahim Tabarki, Sarar Mohamed, Essa Alharby

Neurol Genet· August 2022

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A Novel Frameshift Mutation in the ITGB3 Gene Leading to Glanzmann's Thrombasthenia in a Saudi Arabian Family.
Asma Alharbi, Jamil A Hashmi, Essa Alharby, Alia M Albalawi, Khushnooda Ramzan

Hematol Oncol Stem Cell Ther· March 2022

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Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.
Monis Bilal Shamsi, Mohamed Saleh, Makki Almuntashri, Essa Alharby, Manar Samman

J Hum Genet· July 2021

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Progressive Ataxia and Neurologic Regression in -Associated Bare Lymphocyte Syndrome.
Essa Alharby, Mona Obaid, Mohammed A O Elamin, Makki Almuntashri, Ismail Bakhsh

Neurol Genet· June 2021

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Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.
Fatima M Al-Fadhli, Manal Afqi, Mona Hamza Sairafi, Makki Almuntashri, Essa Alharby

Clin Genet· May 2021

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New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.
Hamoud Alhebbi, Abdul Ali Peer-Zada, Abdulrahman A Al-Hussaini, Sara Algubaisi, Awad Albassami, Essa Alharby

J Hum Genet· February 2021

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Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Essa Alharby, Eissa A Faqeih, Mohammed Saleh, Seham Alameer, Makki Almuntashri

Genet Med· December 2020

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Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome.
Sulman Basit, Howaida Mohammed Al-Edressi, Mona Hamza Sairafi, Jamil Amjad Hashmi, Essa Alharby

J Nephrol· August 2020

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A novel missense variant in the gene in patients with moderate to severe bleeding disorder.
Essa Alharby, Mohammad A Bakhsh, Alia M Albalawi, Sultan O Almutairi, Jamil A Hashmi

Platelets· July 2020

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Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.2.
Sulman Basit, Essa Alharby, Alia M Albalawi, Khalid I Khoshhal

Congenit Anom (Kyoto)· March 2018

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Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip.
Sulman Basit, Alia M Albalawi, Essa Alharby, Khalid I Khoshhal

BMC Med Genet· March 2017

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CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.
Sulman Basit, Khalid M Al-Harbi, Sabri A M Alhijji, Alia M Albalawi, Essa Alharby

Hum Genet· October 2016

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