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Afaf Alsagheir

Observed names: A Al‐Sagheir, AFAF I. ALSAGHEIR, Afaf Al Sagheir, Afaf Al-Sagheir, Afaf AlSagheir, Afaf I Alsagheir, Afaf I. Al-Sagheir, Afaf I. Alsagheir, Afaf alsagheir, Al-Sagheir A, Alsagheir, Afaf
Observed institutions: Alfaisal University, King Faisal Specialist Hospital & Research Centre, King Fahd Medical City, King Abdulaziz Medical City, National Guard Health Affairs, King Khalid University, American University of Beirut
ORCID: 0000-0002-1844-4377
Observed ORCID: 0000-0002-1844-4377
OpenAlex ID: A5066091314
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
2019 · Dorota Monies, Mohammed Abouelhoda, et al. · The American Journal of Human Genetics · 298
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The growth hormone–insulin-like growth factor-I axis in the diagnosis and treatment of growth disorders
2018 · Werner F Blum, Abdullah Alherbish, et al. · Endocrine Connections · 201
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Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
2016 · Anas M. Alazami, Sarah M. Al-Qattan, et al. · Human Genetics · 115
The morbid genome of ciliopathies: an update
2020 · Hanan E. Shamseldin, Ranad Shaheen, et al. · Genetics in Medicine · 111
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
2020 · Sateesh Maddirevula, Hiroyuki Kuwahara, et al. · Genome biology · 93
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Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis
2018 · Minjing Zou, Ali S Alzahrani, et al. · The Journal of Clinical Endocrinology & Metabolism · 83
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Expanding the phenome and variome of skeletal dysplasia
2018 · Sateesh Maddirevula, Saud Alsahli, et al. · Genetics in Medicine · 78
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
2019 · Dorota Monies, Mohammed Abouelhoda, et al. · The American Journal of Human Genetics · 48
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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
2023 · Lama AlAbdi, Sateesh Maddirevula, et al. · Nature Communications · 43
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Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries
2021 · Fahad Al Juraibah, Elham Al Amiri, et al. · Archives of Osteoporosis · 39
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Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
2009 · M Faiyaz‐Ul‐Haque, B Bin‐Abbas, et al. · Clinical Genetics · 30
Divergent Gender Identity in Three Siblings With 46Xx Karyotype and Severely Virilizing Congenital Adrenal Hyperplasia Caused by A Novel Cyp11B1 Mutation
2014 · Bassam Bin-Abbas, Doha Al-Humaida, et al. · Endocrine Practice · 26
Coexistence of endocrinopathies in children with rheumatic diseases
2016 · Doha Alhomaidah, Afaf Alsagheir, et al. · International Journal of Pediatrics and Adolescent Medicine · 20
The clinical characteristics and quality of life of 248 pediatric and adult patients with Congenital Adrenal Hyperplasia
2023 · Edi A. Shafaay, Mohammed A. Aldriweesh, et al. · Frontiers in Endocrinology · 19
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Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population
2018 · Meshael M. Alswailem, Ohoud S. Alzahrani, et al. · Endocrine · 19
Mutational analysis of rare subtypes of congenital adrenal hyperplasia in a highly inbred population
2017 · Meshael M. Alswailem, Ohoud S. Alzahrani, et al. · Molecular and Cellular Endocrinology · 19
Lethal digenic mutations in the K + channels Kir4.1 ( KCNJ10 ) and SLACK ( KCNT1 ) associated with severe-disabling seizures and neurodevelopmental delay
2017 · Sonia Hasan, Ameera Balobaid, et al. · Journal of Neurophysiology · 19
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Molecular genetics of disorders of sex development in a highly consanguineous population
2020 · Meshael Alswailem, Afaf Alsagheir, et al. · The Journal of Steroid Biochemistry and Molecular Biology · 16
A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population
2021 · Ali S Alzahrani, Meshael Alswailem, et al. · Journal of the Endocrine Society · 14
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Munchausen syndrome by proxy: a case report
2023 · Fadiah Alkhattabi, Israa Bamogaddam, et al. · Journal of Medical Case Reports · 13
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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
2018 · Muhammad Faiyaz-Ul-Haque, Waheeb AlDhalaan, et al. · Journal of Pediatric Endocrinology and Metabolism · 13
Diagnosis and management of growth disorders in Gulf Cooperation Council (GCC) countries: Current procedures and key recommendations for best practice
2016 · Abdullah S. Al Herbish, Angham Almutair, et al. · International Journal of Pediatrics and Adolescent Medicine · 13
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A high rate of novel CYP11B1 mutations in Saudi Arabia
2017 · Ali S. Alzahrani, Meshael M. Alswailem, et al. · The Journal of Steroid Biochemistry and Molecular Biology · 12
Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa
2024 · Saif Al Yaarubi, Afaf Alsagheir, et al. · Orphanet Journal of Rare Diseases · 10
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25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations
2021 · Sarah Bakhamis, Faiqa Imtiaz, et al. · Endocrine Connections · 10
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Works count: 113
Citation count: 1,492
H-index: 17
I10-index: 25
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