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A. Alsagheir · SciRah

Researcher profile · Semantic Scholar

A. Alsagheir

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A. Alsagheir — researcher profile on SciRah

h-index: 14
Works: 60
Citations: 1,029

Most-cited papers

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
D. Monies, M. Abouelhoda, M. Assoum, N. Moghrabi +113 more
2019American Journal of Human Genetics210 citations Open access
Semantic Scholar
The growth hormone–insulin-like growth factor-I axis in the diagnosis and treatment of growth disorders
W. Blum, Abdullah Alherbish, A. Alsagheir, A. El Awwa +3 more
2018Endocrine Connections137 citations Open access
Semantic Scholar
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
D. Monies, M. Abouelhoda, M. Assoum, Nabil Moghrabi +114 more
2019American Journal of Human Genetics103 citations Open access
Semantic Scholar
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
A. Alazami, S. Al-Qattan, E. Faqeih, A. Alhashem +20 more
2016Human Genetics101 citations
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
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
S. Maddirevula, Hiroyuki Kuwahara, N. Ewida, H. Shamseldin +24 more
2020Genome Biology79 citations Open access
Semantic Scholar
Expanding the phenome and variome of skeletal dysplasia
S. Maddirevula, S. Alsahli, Lamees Alhabeeb, N. Patel +52 more
2018Genetics in Medicine71 citations Open access
Semantic Scholar
Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis
M. Zou, A. Alzahrani, A. Al-Odaib, M. Alqahtani +11 more
2018Journal of Clinical Endocrinology and Metabolism62 citations Open access
Semantic Scholar
The clinical characteristics and quality of life of 248 pediatric and adult patients with Congenital Adrenal Hyperplasia
Edi A. Shafaay, Mohammed A Aldriweesh, Ghadeer L Aljahdali, A. Babiker +9 more
2023Frontiers in Endocrinology16 citations Open access
Semantic Scholar
Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population
Meshael M. Alswailem, Ohoud Alzahrani, Lamyaa Alghofaili, Ebtesam Qasem +6 more
2018Endocrine16 citations
Semantic Scholar
Mutational analysis of rare subtypes of congenital adrenal hyperplasia in a highly inbred population.
Meshael M. Alswailem, Ohoud Alzahrani, D. Alhomaidah, Rahma Alasmari +8 more
2017Molecular and Cellular Endocrinology16 citations Open access
Semantic Scholar
Molecular genetics of disorders of sex development in a highly consanguineous population.
Meshael M. Alswailem, A. Alsagheir, Bassam Ben Abbas, Ohoud Alzahrani +1 more
2020Journal of Steroid Biochemistry and Molecular Biology15 citations
Semantic Scholar
Coexistence of endocrinopathies in children with rheumatic diseases
D. Alhomaidah, A. Alsagheir, S. Al-Mayouf
2016International Journal of Pediatrics and Adolescent Medicine15 citations Open access
Semantic Scholar
Diagnosis and management of growth disorders in Gulf Cooperation Council (GCC) countries: Current procedures and key recommendations for best practice
A. A. Al Herbish, Angham Almutair, Bassam bin Abbas, A. Alsagheir +7 more
2016International Journal of Pediatrics and Adolescent Medicine15 citations Open access
Semantic Scholar
A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population
A. Alzahrani, Meshael M. Alswailem, Bassam bin Abbas, Ebtesam Qasem +9 more
2021Journal of the Endocrine Society12 citations Open access
Semantic Scholar
Munchausen syndrome by proxy: a case report
Fadiah Alkhattabi, Israa Y Bamogaddam, A. Alsagheir, A. Al-Ashwal +1 more
2023Journal of Medical Case Reports8 citations Open access
Semantic Scholar
Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
M. Faiyaz-ul-Haque, Waheeb Aldhalaan, A. Alashwal, B. Bin-Abbas +4 more
2018Journal of Pediatric Endocrinology & Metabolism (JPEM)8 citations Open access
Semantic Scholar
Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa
S. Al Yaarubi, A. Alsagheir, Azza Al Shidhani, Somaya Alzelaye +22 more
2024Orphanet Journal of Rare Diseases7 citations Open access
Semantic Scholar
Adult genomic medicine: lessons from a multisite study of 2700 patients
K. Bakur, H. Hamid, B. Alhaddad, Majid Alfadhel +82 more
2025Genome Medicine5 citations Open access
Semantic Scholar
Quality of life of 26 family members from four generations with X-linked hypophosphatemia: a cross-sectional study
A. Alsagheir, Bassam Bin-Abbas, Nujud Alghamdi, Raghad Alhuthil +6 more
2025Frontiers in Endocrinology5 citations Open access
Semantic Scholar
Information needs on type 1 diabetes mellitus (T1DM) and its management in children and adolescents: a qualitative study
Sasha Muhammed Elamin, Nur Fitrah Muhamad Arshad, Adyani Md Redzuan, S. A. Abdul Aziz +5 more
2024BMJ Open5 citations Open access
Semantic Scholar
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
A. Alazami, S. Al-Qattan, E. Faqeih, A. Alhashem +20 more
2016Human Genetics4 citations
Semantic Scholar
Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review
A. Alsagheir, Raghad Alhuthil, A. Alissa, Faisal Joueidi +4 more
2025Frontiers in Endocrinology3 citations Open access
Semantic Scholar
Homozygous familial hypercholesterolemia in a high-consanguinity population: Insights from a Saudi cohort.
A. Alsagheir, Ismail A. Abdullah, M. Albitar, A. Aljaser +14 more
2025Journal of Clinical Lipidology3 citations
Semantic Scholar
A Saudi child with Sphingosine Phosphate Lyase insufficiency syndrome
Lamya Alrayes, M. Alotaibi, A. Alsagheir
2021Journal of Biochemical and Clinical Genetics3 citations Open access
Semantic Scholar
Long-term outcomes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective study from a tertiary care center in Saudi Arabia
Haneen Aldalaan, A. Alsagheir, Nujud Alghamdi, Raghad Alhuthil +2 more
2025Frontiers in Endocrinology2 citations Open access
Semantic Scholar
Isolated Pancreatic Agenesis Secondary to PTF1A Gene Mutation: A Case Series and Literature Review
A. Alsagheir, Angham Almutair, Sarah Bakhamis, L. Aletani +2 more
2023Cureus2 citations Open access
Semantic Scholar
Management of childhood-onset growth hormone deficiency in patients transitioning from pediatric to adult care: A review of the literature and consensus report from a panel of experts in Saudi Arabia
Angham Almutair, A. Alsagheir, Afaf Alshammary, Abdullah AlFares +9 more
2023International Journal of Pediatrics and Adolescent Medicine2 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
Abstract #1321492: First Interim Analysis of Fibroblast Growth Factor 23–Related Hypophosphatemic Rickets and Osteomalacia Registry in the Gulf Region: Baseline Characteristics for Adult and Pediatric Population
Mohammed Dubayee, Noman Ahmad, Salwa B. Alaidarous, Jamal Al-Jubeh +11 more
2022Endocrine Practice2 citations
Semantic Scholar
Impact of early life exposure to active play and movement on health and wellbeing across the lifespan: A narrative review of RCTs from 2020-2025.
Andrew P. Hills, Fadiah Alkhattabi, Reem AlAhmed, Saleh A. Alessy +11 more
2026Diabetes & metabolic syndrome1 citations Open access
Semantic Scholar
Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort
A. Alsagheir, Ali Mcrabi, Meshari Alquayt, Raghad Alhuthil +9 more
2026Frontiers in Genetics1 citations
Semantic Scholar
Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations
Rodrigo Mendez, Taylor M. Arriaga, Jia-Lan Ma, D. Bonner +22 more
2026HGG advances1 citations Open access
Semantic Scholar
Urinary phthalate metabolites and central precocious puberty in girls: Evidence for luteinizing hormone mediation
I. al-Saleh, Rola Elkhatib, A. Alsagheir, H. Sultana +6 more
2026Journal of Hazardous Materials Advances1 citations Open access
Semantic Scholar
3M syndrome in Saudi Arabia: a case series study and literature review
Raghad Alhuthil, A. Alsagheir, Maha Almslam, Jana Raed +3 more
2025Frontiers in Endocrinology1 citations Open access
Semantic Scholar
Case Report: De novo DHX37 mutations in Saudi patients with 46,XY differences of sex development
A. Alabduljabbar, Sara Abid, Dania Farooq, Sara Aljazaeri +4 more
2025Frontiers in Endocrinology1 citations Open access
Semantic Scholar
Case Report: A homozygous selenocysteine insertion sequence-binding protein 2 (SECISBP2) gene mutation in a pediatric patient
Lina Almohammadi, Lama T. Alsayel, Mohammad Aljumaa, Raghad Alhuthil +1 more
2025Frontiers in Pediatrics1 citations
Semantic Scholar
Association of the Glycemia Risk Index With Glycemic Metrics and Sensor Usage in a Real-World Pediatric Population With Low Hypoglycemia Rates in Saudi Arabia
L. Alzubaidi, Faisal S. El Enezi, A. Alsagheir, M. Hassanein +4 more
2025Cureus1 citations Open access
Semantic Scholar
Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi Arabia
A. Alsagheir, A. Al-Ashwal, Amal Binladen, Raghad Alhuthil +3 more
2024Frontiers in Endocrinology1 citations Open access
Semantic Scholar
Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating PTH mutation
Noha N. Mukhtar, B. Alghamdi, Meshael M. Alswailem, A. Alsagheir +1 more
2024Frontiers in Endocrinology1 citations Open access
Semantic Scholar
StAR Protein Deficiency in Clinical Practice: A Case Series From Saudi Arabia
A. Alabduljabbar, Dania Farooq, Sara Abid, Sara Aljazaeri +2 more
2026Case Reports in Endocrinology0 citations
Semantic Scholar
Clinical tools for evaluating congenital adrenal hyperplasia in resource-limited hospitals: a study at a tertiary hospital in Saudi Arabia
Daniah S. Alhazmi, Azzam Alabdulqader, Shahad Almeqbel, Raghad Alhuthil +1 more
2026Frontiers in Endocrinology0 citations Open access
Semantic Scholar
Pregnancy after the ross procedure: imaging pathway and clinical outcomes
D. Galzerano, N. Kholaif, A. Habib, H. Alarfaj +8 more
2026European Heart Journal - Cardiovascular Imaging0 citations
Semantic Scholar
Predictors of quality of life in parents of children with rare diseases: a tertiary care center cross-sectional study in Saudi Arabia
Abdullah Alkhani, M. Al Eissa, Fahad M. Almsned, Albara Arefi +7 more
2026Frontiers in Public Health0 citations Open access
Semantic Scholar
Denys‐Drash Syndrome by WT1 Gene: Clinical Variability and Management Challenges in Two Saudi Infants
Waleed Al-Amoudi, Raghad Alhuthil, A. Alnwiji, M. S. Alqarni +2 more
2026Case Reports in Endocrinology0 citations Open access
Semantic Scholar
Prevalence and risk factors of thrombosis in patients with congenital hyperinsulinism: a retrospective analysis
M. Albitar, Nida Mariyam, Ziad Alhosainy, Raghad Alhuthil +4 more
2025Frontiers in Endocrinology0 citations Open access
Semantic Scholar
Star protein deficiency in clinical practice: [ldquo]a case series review[rdquo]
A. Alsagheir, A. Alabduljabbar, Dania Farooq, Sara Abid +2 more
2025Endocrine Abstracts0 citations
Semantic Scholar
A novel de novo mutation of the DHX37 gene in patients with 46,XY DSD
A. Alsagheir, A. Alabduljabbar, Sara Abid, Dania Farooq +4 more
2025Endocrine Abstracts0 citations
Semantic Scholar
Genetic landscape and clinical spectrum of 46,XY differences of sex development: a retrospective study in a major saudi referral center
A. Alsagheir, A. Alabduljabbar, Zainab Mohamed, Zahra Alrubeh +5 more
2025Endocrine Abstracts0 citations
Semantic Scholar
Clinical and Genetic Profiles of Congenital Myasthenic Syndromes: A Single Tertiary Care Center Experience from Saudi Arabia (P12-11.029)
Fahad Bahanan, M. Aldawsari, Sara Bin Manea, A. Alsagheir +3 more
2025Neurology0 citations
Semantic Scholar

Frequent co-authors

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Raghad Alhuthil×18
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Raghad Alhuthil — researcher profile on SciRah
F. Alkuraya×10
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F. Alkuraya — researcher profile on SciRah
A. Alhashem×9
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A. Alhashem — researcher profile on SciRah
M. Hashem×7
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M. Hashem — researcher profile on SciRah

Hamad I. Alzaidan

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A. Alzahrani×6

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A. Alzahrani — researcher profile on SciRah

Dalal K Bubshait×5

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Dalal K Bubshait — researcher profile on SciRah

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M. Mahnashi — researcher profile on SciRah

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H. Alkuraya — researcher profile on SciRah

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E. Faqeih — researcher profile on SciRah

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R. Shaheen — researcher profile on SciRah