Hanan E. Shamseldin
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View article: Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency Open
View article: <i>NUBP2</i>deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly
<i>NUBP2</i>deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly Open
Microcephaly affects 1 in 2,500 babies per year. Primary microcephaly results from aberrant neurogenesis leading to a small brain at birth. This is due to altered patterns of proliferation and/or early differentiation of neurons. Premature…
View article: Biallelic variants in<i>MRPL49</i>cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Biallelic variants in<i>MRPL49</i>cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency Open
Combined oxidative phosphorylation deficiency (COXPD) is a rare multisystem disorder which is clinically and genetically heterogeneous. Genome sequencing identified biallelic MRPL49 variants in individuals from five unrelated families with…
View article: Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing
Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing Open
Background Genetic disorders account for a large percentage of admissions and outpatient visits to children's hospitals around the world. Clinical exome sequencing (CES) is a valuable diagnostic tool in the workup of these disorders; howev…
View article: Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications Open
View article: Further delineation of the phenotypic and metabolomic profile of <i>ALDH1L2</i>‐related neurodevelopmental disorder
Further delineation of the phenotypic and metabolomic profile of <i>ALDH1L2</i>‐related neurodevelopmental disorder Open
ALDH1L2, a mitochondrial enzyme in folate metabolism, converts 10‐formyl‐THF (10‐formyltetrahydrofolate) to THF (tetrahydrofolate) and CO 2 . At the cellular level, deficiency of this NADP + ‐dependent reaction results in marked reduction …
View article: Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases Open
View article: Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families Open
View article: The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction
The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction Open
Objective Fetal megacystis generally presents as suspected lower urinary tract obstruction (LUTO), which is associated with severe perinatal morbidity. Genetic etiologies underlying LUTO or a LUTO—like initial presentation are poorly under…
View article: SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission Open
SLC4A10 is a plasma-membrane bound transporter that utilizes the Na+ gradient to drive cellular HCO3− uptake, thus mediating acid extrusion. In the mammalian brain, SLC4A10 is expressed in principal neurons and interneurons, as well as in …
View article: THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder Open
View article: Biallelic Loss‐of‐Function <scp><i>NDUFA12</i></scp> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy
Biallelic Loss‐of‐Function <span><i>NDUFA12</i></span> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy Open
Background Biallelic loss‐of‐function NDUFA12 variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only. Objectives To fully characterize, b…
View article: Lethal variants in humans: lessons learned from a large molecular autopsy cohort
Lethal variants in humans: lessons learned from a large molecular autopsy cohort Open
Background Molecular autopsy refers to DNA-based identification of the cause of death. Despite recent attempts to broaden its scope, the term remains typically reserved to sudden unexplained death in young adults. In this study, we aim to …
View article: Molecular autopsy by proxy in preconception counseling
Molecular autopsy by proxy in preconception counseling Open
Monogenic diseases that result in early pregnancy loss or neonatal death are genetically and phenotypically highly variable. This often poses significant challenges in arriving at a molecular diagnosis for reproductive planning. Molecular …
View article: Author response for "Molecular autopsy by proxy in preconception counseling"
Author response for "Molecular autopsy by proxy in preconception counseling" Open
View article: Erratum to: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia
Erratum to: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia Open
The publisher apologizes for publishing an incorrect version of the article. This has been corrected.
View article: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia
Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia Open
Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated…
View article: Additional file 3 of Lethal variants in humans: lessons learned from a large molecular autopsy cohort
Additional file 3 of Lethal variants in humans: lessons learned from a large molecular autopsy cohort Open
Additional file 3: Supplementary Tables S2-S5. Table S2: Level of very long chain fatty acids in patient 18DG0989. Values with asterisk are elevated. Table S3: Breakdown of genes with no OMIM phenotype. No OMIM phenotype*: Case phenotype i…
View article: Additional file 1 of Lethal variants in humans: lessons learned from a large molecular autopsy cohort
Additional file 1 of Lethal variants in humans: lessons learned from a large molecular autopsy cohort Open
Additional file 1: Supplementary Table S1. Table S1: Details of clinical and molecular findings of the study cases. No OMIM phenotype*: Phenotype is not listed in OMIM. Likely pathogenic*: Upgraded to likely pathogenic using ClinGen criter…
View article: Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update
Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update Open
There is a growing interest in standardizing gene-disease associations for the purpose of facilitating the proper classification of variants in the context of Mendelian diseases. One key line of evidence is the independent observation of p…
View article: Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches Open
Thus, we identified 3 novel candidate genes for human SRNS using 3 independent, nonoverlapping hypotheses, and generated functional evidence for SYNPO as a novel potential monogenic cause of NS.
View article: Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenita
Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenita Open
Cobalamin F (CblF) deficiency is part of a rare group of intracellular vitamin B12 metabolism deficiencies.1 It most commonly presents during infancy and childhood, and it manifests as a broad spectrum of phenotypes that include developmen…
View article: Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics Open
View article: Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB
Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB Open
Background: Inhibitor of kappa kinase 2 (IKK2) deficiency is a recently described combined immunodeficiency. It undermines the nuclear factor-kappa B (NF-κB) activation pathway. Methods: The clinical and immunological data of…
View article: The morbid genome of ciliopathies: an update
The morbid genome of ciliopathies: an update Open
View article: Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities Open
View article: Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance
Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance Open
View article: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance
A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance Open
View article: Additional file 7 of Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
Additional file 7 of Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics Open
Additional file 7. Table S5. The performance comparison results of our RNA-Seq pipeline.
View article: Additional file 8 of Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
Additional file 8 of Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics Open
Additional file 8. Table S6. Transcript-deleterious variants with unusual phenotypic consequences.