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Ahmed Alfares · SciRah

Researcher profile · Semantic Scholar

Ahmed Alfares

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Ahmed Alfares — researcher profile on SciRah

h-index: 19
Works: 46
Citations: 1,162

Most-cited papers

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing
Ahmed Alfares, Taghrid Aloraini, Lamia Alsubaie, Abdulelah Alissa +9 more
2018Genetics in Medicine166 citations Open access
Semantic Scholar
Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration
V. Shashi, M. Magiera, D. Klein, M. Zaki +56 more
2018EMBO Journal118 citations Open access
Semantic Scholar
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
A. Bertoli-Avella, C. Beetz, Najim Ameziane, Maria Eugenia Rocha +31 more
2020European Journal of Human Genetics104 citations Open access
Semantic Scholar
The morbid genome of ciliopathies: an update
H. Shamseldin, R. Shaheen, N. Ewida, Dalal K Bubshait +37 more
2020Genetics in Medicine95 citations Open access
Semantic Scholar
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.
Ahmed Alfares, M. Alfadhel, T. Wani, S. Alsahli +25 more
2017Molecular Genetics and Metabolism85 citations
Semantic Scholar
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
M. Alfadhel, Mohammed Benmeakel, M. A. Hossain, Fuad Al Mutairi +5 more
2016Orphanet Journal of Rare Diseases80 citations Open access
Semantic Scholar
Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
A. Bertoli-Avella, K. Kandaswamy, Suliman Khan, Natalia Ordoñez-Herrera +33 more
2021Genetics in Medicine54 citations Open access
Semantic Scholar
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
M. Wiessner, R. Maroofian, Meng-Yuan Ni, A. Pedroni +102 more
2021Brain : a journal of neurology46 citations Open access
Semantic Scholar
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening
M. Alfadhel, Muhammad Umair, B. Almuzzaini, S. Alsaif +16 more
2019Annals of Clinical and Translational Neurology46 citations Open access
Semantic Scholar
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans
M. Alfadhel, Marwan Nashabat, H. Al Qahtani, Ahmed Alfares +9 more
2016Human Genetics38 citations Open access
Semantic Scholar
Common disease-associated gene variants in a Saudi Arabian population
M. Al Eissa, Taghrid Aloraini, Lamia Alsubaie, M. Hassoun +7 more
2022Annals of Saudi Medicine31 citations Open access
Semantic Scholar
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly
W. Macken, A. Godwin, G. Wheway, K. Stals +13 more
2021Genome Medicine31 citations Open access
Semantic Scholar
Prospect of genetic disorders in Saudi Arabia
Amerh S. Alqahtani, Raniah S. Alotibi, Taghrid Aloraini, Fahad Almsned +4 more
2023Frontiers in Genetics29 citations Open access
Semantic Scholar
Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation
Tlili Barhoumi, Marwan Nashabat, Bandar Alghanem, Alshaimaa Alhallaj +6 more
2019Frontiers in Genetics28 citations Open access
Semantic Scholar
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data
M. Alfadhel, Mohammed A. Almuqbil, Fuad Al Mutairi, Muhammad Umair +25 more
2021Frontiers in Pediatrics24 citations Open access
Semantic Scholar
The diagnostic yield of CGH and WES in neurodevelopmental disorders
Raniah S. Alotibi, Naif S. Sannan, M. Al Eissa, M. Aldriwesh +9 more
2023Frontiers in Pediatrics23 citations Open access
Semantic Scholar
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial
M. Alfadhel, Marwan Nashabat, M. Saleh, M. Elamin +16 more
2021Orphanet Journal of Rare Diseases21 citations Open access
Semantic Scholar
Arab founder variants: Contributions to clinical genomics and precision medicine.
L. Alabdi, S. Maddirevula, B. Aljamal, H. Hamid +44 more
2024i Medicina20 citations Open access
Semantic Scholar
HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients
M. Alfadhel, Basma Abadel, Hind Almaghthawi, Muhammad Umair +8 more
2022Frontiers in Genetics20 citations Open access
Semantic Scholar
Peeling skin syndrome associated with novel variant in FLG2 gene
Ahmed Alfares, S. Al-khenaizan, Fuad Al Mutairi
2017American Journal of Medical Genetics. Part A18 citations
Semantic Scholar
Short stature with low insulin‐like growth factor 1 availability due to pregnancy‐associated plasma protein A2 deficiency in a Saudi family
A. Babiker, Khalid Al Noaim, Abdulrahman Al Swaid, Majid Alfadhel +7 more
2021Clinical Genetics12 citations Open access
Semantic Scholar
Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate
Ahmed Alfares
2018International Journal of Health Sciences11 citations
Semantic Scholar
KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome
S. Alsahli, S. Arold, Ahmed Alfares, B. Alhaddad +4 more
2018American Journal of Medical Genetics. Part A11 citations
Semantic Scholar
Genetic carrier screening for disorders included in newborn screening in the Saudi population
M. Eissa, Taghrid Aloraini, Lamia Alsubaie, A. Alswaid +5 more
2021Journal of Biochemical and Clinical Genetics10 citations Open access
Semantic Scholar
Genomic testing and counseling: The contribution of next‐generation sequencing to epilepsy genetics
Lamia Alsubaie, Taghrid Aloraini, Manal Amoudi, Abdulrahman Swaid +13 more
2020Annals of Human Genetics10 citations
Semantic Scholar
An Overview of Mendelian Disorders In Saudi Arabia
Ahmed Alfares, F. Alkuraya
6 citations
Semantic Scholar
Genetic Analysis of Heterotaxy in a Consanguineous Cohort
M. Al-Korashy, Hadeel Binomar, A. Almostafa, Ibrahim Al‐Mogarri +12 more
2024Clinical Genetics5 citations
Semantic Scholar
Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures
S. Alsahli, Ahmed Alfares, Francisco J. Guzmán-Vega, S. Arold +2 more
2019Neurogenetics5 citations Open access
Semantic Scholar
Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism
Sajjad Karim, Samah Saharti, N. Alganmi, Z. Mirza +8 more
2021Life4 citations Open access
Semantic Scholar
The variant artificial intelligence easy scoring (VARIES) system
Taghrid Aloraini, Abdulrhman Aljouie, R. Alniwaider, Wardah Alharbi +9 more
2022Comput. Biol. Medicine3 citations
Semantic Scholar
Diabetic ketoacidosis in vanishing white matter
Hannadi J. Alamri, Fuad Al Mutairi, Johara Alothman, A. Alothaim +2 more
2016Clinical Case Reports3 citations Open access
Semantic Scholar
The morbid genome of ciliopathies: an update.
H. Shamseldin, R. Shaheen, N. Ewida, Dalal K Bubshait +37 more
2022Genetics in Medicine2 citations Open access
Semantic Scholar
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
M. Wiessner, R. Maroofian, Meng-Yuan Ni, A. Pedroni +102 more
2021Brain : a journal of neurology2 citations Open access
Semantic Scholar
Hypospadias in ring X syndrome.
H. Elghezal, Khowla Alfayez, I. Ben Abdallah, Ahmed Alfares +5 more
2021European Journal of Medical Genetics1 citations
Semantic Scholar
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
A. Bertoli-Avella, C. Beetz, Najim Ameziane, Maria Eugenia Rocha +31 more
2020European Journal of Human Genetics1 citations Open access
Semantic Scholar
De Novo Ring Chromosome 15: Molecular Cytogenetic and Clinical Characterization of First Case from Saudi Arabia
A. Alhashem, S. Alazmeh, Á. Barakat, Ahmed Alfares +1 more
2020Journal of Pediatric Genetics1 citations Open access
Semantic Scholar
MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database
Lamia Alsubaie, Randa Alkhalaf, Taghrid Aloraini, Manal Amoudi +6 more
2020Annals of Human Genetics1 citations
Semantic Scholar
Knowledge and attitude of physicians, cancer patients and the public concerning cancer-related genetic tests in Saudi Arabia
Lamia Alsubaie, A. Alswaid, O. Abdulaty, Ahmed Alfares +1 more
2019Journal of Biochemical and Clinical Genetics1 citations Open access
Semantic Scholar
Clinical reassessment of post-laboratory variant call format (VCF) files
Lamia Alsubaie, Saeed Alturki, A. Alothaim, Ahmed Alfares
20181 citations Open access
Semantic Scholar
Supplementary Testing after Negative or Inconclusive Exome Sequencing Results
Balsam M. AlMaarik, Taghrid Aloraini, Ghida Alsolamy, Roselyn Paclejan +8 more
2023Journal of Biochemical and Clinical Genetics0 citations Open access
Semantic Scholar
Genetic impact of non-consanguineous marriages in Saudi Arabia.
M. Alyahya, Taghrid Aloraini, Youseef Al-Harbi, Lamia Alsubaie +6 more
2023Journal of Biochemical and Clinical Genetics0 citations Open access
Semantic Scholar
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly
W. Macken, A. Godwin, G. Wheway, K. Stals +13 more
2021Genome Medicine0 citations Open access
Semantic Scholar
Author response for "Short stature with low insulin‐like growth factor 1 availability due to pregnancy‐associated plasma protein A2 deficiency in a Saudi family"
Amir Babiker, Khalid Al Noaim, Abdulrahman Al Swaid, Majid Alfadhel +7 more
20210 citations
Semantic Scholar
Review for "Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: it is never too late"
Ahmed Alfares
20200 citations
Semantic Scholar
Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report
R. Almutairi, Sara Alrashidi, Muhammed Umair, Maha Alshalan +5 more
20200 citations Open access
Semantic Scholar
Use of HPLC-UV method for the analysis of maple syrup urine disease in plasma sample first time in Saudi Arabia
Abdul Rafiq Khan, A. Alothaim, Ahmed Alfares, N. Al Hussain
20180 citations Open access
Semantic Scholar

Frequent co-authors

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M. Alfadhel×26
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M. Alfadhel — researcher profile on SciRah
Fuad Al Mutairi×17
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Fuad Al Mutairi — researcher profile on SciRah
Lamia Alsubaie×14
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Lamia Alsubaie — researcher profile on SciRah
Taghrid Aloraini×12
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Taghrid Aloraini — researcher profile on SciRah

×11

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A. Alswaid — researcher profile on SciRah

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W. Eyaid — researcher profile on SciRah

A. Alhashem×10

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A. Alhashem — researcher profile on SciRah

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F. Alkuraya — researcher profile on SciRah

Faroug Ababneh×7

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Faroug Ababneh — researcher profile on SciRah

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C. Beetz — researcher profile on SciRah

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A. Alothaim — researcher profile on SciRah

H. Shamseldin×5

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H. Shamseldin — researcher profile on SciRah