Hanan E. Shamseldin

King Faisal Specialist Hospital & Research Centre — Saudi Arabia

Biochemistry, Genetics and Molecular Biology · Life Sciences

43h-index5.2kcitations111works6.12yr avg
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Research Topics

Genomics and Rare Diseases(27), Genomic variations and chromosomal abnormalities(19), Genetics and Neurodevelopmental Disorders(16), RNA modifications and cancer(15), RNA Research and Splicing(12)

Publications111 total

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype
2025Open Access
Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance
UNC Libraries·2025Open Access
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
The American Journal of Human Genetics·2025· 4 citedOpen Access
<i>NUBP2</i> deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly
2025Open Access
Arab founder variants: Contributions to clinical genomics and precision medicine
Med·2024· 9 cited
Biallelic variants in <i>MRPL49</i> cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
2024· 1 citedOpen Access
Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing
Frontiers in Pediatrics·2024· 2 citedOpen Access
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Nature Communications·2024· 41 citedOpen Access
Further delineation of the phenotypic and metabolomic profile of <i>ALDH1L2</i>‐related neurodevelopmental disorder
Clinical Genetics·2024· 2 citedOpen Access
Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution
Human Genetics·2024· 2 cited
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
Genome Medicine·2023· 30 citedOpen Access
A founder DBR1 variant causes a lethal form of congenital ichthyosis
Human Genetics·2023· 7 cited
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
Nature Communications·2023· 36 citedOpen Access
The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction
Prenatal Diagnosis·2023· 8 citedOpen Access
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission
Brain·2023· 16 citedOpen Access
Gain-of-function variants in the <i>KDF1</i> gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase α
British Journal of Dermatology·2023· 7 cited
PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis
Human Genetics·2023· 8 cited
Molecular diagnoses in fetuses with megacystis/LUTO by prenatal ultrasound
American Journal of Obstetrics and Gynecology·2023Open Access
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
Genetics in Medicine·2022· 34 cited
The morbid genome of ciliopathies: an update
Genetics in Medicine·2022· 7 cited
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Frequent Co-authors

Fowzan S. Alkuraya(50), Mais Hashem(20), Ranad Shaheen(15), Amal Alhashem(13), Firdous Abdulwahab(13), Niema Ibrahim(13), Eissa Faqeih(12), Mustafa A. Salih(10), Fatema Alzahrani(9), Majid Alfadhel(9), Dorota Monies(9), Mohamed Abouelhoda(8), Sateesh Maddirevula(8), Nisha Patel(8), Saeed Al Tala(7), Wesam Kurdi(7), Nour Ewida(7), Hisham Alkuraya(7), Zuhair Rahbeeni(7), Muneera Alshammari(6)