Publications by authors named "Saeed Al Tala"

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Adult genomic medicine: lessons from a multisite study of 2700 patients.
Khadijah Bakur, Halima Hamid, Bader Alhaddad, Majid Alfadhel, Amal Alhashem, Talal Alanzi, Saeed Al Tala

Genome Med· September 2025

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Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.
Efil Bayam, Peggy Tilly, Stephan C Collins, José Rivera Alvarez, Meghna Kannan, Saeed Al Tala

EMBO Mol Med· January 2025

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A Novel Variant of GP9 Gene Resulting in Bernard-Soulier Syndrome: A Case Report.
Badriah G Alasmari, Sameer M Alqahtani, Ali Alabbas, Muhammad Saeed, Lina Elzubair, Saeed M Al-Tala

Cureus· December 2024

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A Rare THPO Gene Mutation in a Saudi Female Child: A Case Report and Literature Review.
Badriah G Alasmari, Khalid Elzubair, Ali Alquraishi, Mohammed Adlan, Ali Alabbas, Saeed Al Tala

Cureus· September 2024

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A child with dilated cardiomyopathy and homozygous splice site variant in gene.
Afaf Alsubhi, Manar Aldarwish, Pankaj B Agrawal, Saeed M Al Tala, Osama Eldadah

Mol Genet Metab Rep· March 2024

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Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
Lama AlAbdi, Hanan E Shamseldin, Ebtissal Khouj, Rana Helaby, Bayan Aljamal, Saeed Al Tala

Genome Med· December 2023

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LAD-III, a Mild Phenotype Resulting From a Novel Variant of FERMT3 Gene: A Case Report.
Badriah G Alasmari, Mohammed Alomari, Wejdan N Alotaibi, Ashwaq Hommadi, Abdelhakam A Elmugadam, Saeed M Al-Tala

Cureus· December 2023

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Hemophagocytic Lymphohistiocytosis (HLH) Due to Fulminant Salmonella Sepsis in the Setting of IL12Rβ1 (Interleukin 12 Receptor Beta 1) Deficiency.
Ali Alabbas, Badriah G Alasmari, Muhammad Saeed, Saeed M Al-Tala, Ayman E Abualama

Cureus· July 2023

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Congenital Factor X-Riyadh (Stuart-Prower) Deficiency With Isolated Prothrombin Time Prolongation: A Case Report.
Badriah G Alasmari, Salma E Tahaelbashir, Mohammed Alomari, Ashwaq M Hommadi, Abdullah Baothman, Saeed M Al-Tala

Cureus· April 2023

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Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.
Rocio Rius, Neal K Bennett, Kaustuv Bhattacharya, Lisa G Riley, Zafer Yüksel, Saeed M Al Tala

Hum Mutat· December 2022

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Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.
Martine W Tremblay, Matthew V Green, Benjamin M Goldstein, Andrew I Aldridge, Jill A Rosenfeld, Saeed Al Tala

Hum Mol Genet· May 2022

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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Martin Broly, Bogdan V Polevoda, Kamel M Awayda, Ning Tong, Jenna Lentini, Saeed Al-Tala

Am J Hum Genet· April 2022

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Spinal Muscular Atrophy with Respiratory Distress
Type 1: A Novel Variant of IGHMBP2 Gene.
Muhammad Saeed, Walid Fawzy, Saeed Al-Tala, Tayseer Adel Magid, Hala Ahmed

J Coll Physicians Surg Pak· December 2021

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Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Saeed Al Tala

Brain· September 2021

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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Andrea Catala Bordes, Saeed Al Tala

Brain· June 2021

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The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Marwan Nashabat, Xena S Al Qahtani, Salwa Almakdob, Waleed Altwaijri, Duaa M Ba-Armah, Saeed Al Tala

Seizure· July 2019

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Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia.
Hams S Al-Zahrani, Saeed Al-Tala, Hussein S A Mohamoud, Bandar A Al-Shehri, Saeed Al-Fadhel

Congenit Anom (Kyoto)· May 2019

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Genomic and phenotypic delineation of congenital microcephaly.
Ranad Shaheen, Sateesh Maddirevula, Nour Ewida, Saud Alsahli, Ghada M H Abdel-Salam, Saeed Al Tala

Genet Med· March 2019

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Autozygome and high throughput confirmation of disease genes candidacy.
Sateesh Maddirevula, Fatema Alzahrani, Mohammed Al-Owain, Mohammad A Al Muhaizea, Husam R Kayyali, Saeed M Al Tala

Genet Med· March 2019

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The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Jumanah Alshenaifi, Nour Ewida, Shams Anazi, Hanan E Shamseldin, Nisha Patel, Saeed Al Tala

Clin Genet· February 2019

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Expanding the phenome and variome of skeletal dysplasia.
Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, Nisha Patel, Fatema Alzahrani, Saeed Al Tala

Genet Med· December 2018

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Molecular autopsy in maternal-fetal medicine.
Hanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff, Saeed Al Tala

Genet Med· April 2018

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Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.
Saud Alsahli, Muhammad Talal Alrifai, Saeed Al Tala, Fuad Al Mutairi, Majid Alfadhel

J Cent Nerv Syst Dis· February 2018

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Correction to: Expanding the genetic heterogeneity of intellectual disability.
Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, Yasmine T Asi, Saud Alsahli, Saeed Al Tala

Hum Genet· January 2018

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Expanding the genetic heterogeneity of intellectual disability.
Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, Yasmine T Asi, Saud Alsahli, Saeed Al Tala

Hum Genet· November 2017

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