Mohamed S. Abdel‐Hamid
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View article: Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements Open
These findings expand the phenotypic spectrum of GOT2 deficiency, establish it as a cause of developmental epileptic encephalopathy, and propose novel biomarkers for diagnosis and treatment.
View article: COL1-related overlap disorder: An emerging phenotype linked to mono- and bi-allelic COL1A1/2 variants
COL1-related overlap disorder: An emerging phenotype linked to mono- and bi-allelic COL1A1/2 variants Open
We present a new patient harboring a homozygous COL1A1 variant with a distinctive skeletal phenotype in comparison to the few previously reported patients in the literature. In addition, we describe three families with osteogenesis imperfe…
View article: ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant
ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant Open
View article: The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants
The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants Open
View article: New Phenotypes Associated With Pathogenic <i>RNASEH2B</i> and <i>SAMHD1</i> Variants
New Phenotypes Associated With Pathogenic <i>RNASEH2B</i> and <i>SAMHD1</i> Variants Open
Pathogenic variants in nine genes (AGS1‐9) were mainly reported in patients with Aicardi–Goutières syndrome (AGS), which is a genetic disorder of the innate immune response associated with improper induction of Type I interferon (IFN). The…
View article: Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation Open
View article: Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes
Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes Open
Biallelic variants in COL25A1 have been associated with isolated congenital cranial dysinnervation disorders (CCDDs) and arthrogryposis multiplex congenital (AMC) with or without CCDD. COL25A1 encodes collagen XXV that belongs to the subfa…
View article: Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia
Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia Open
Odontochondrodysplasia (ODCD) is a rare skeletal dysplasia characterized by short stature, skeletal deformities, and dentinogenesis imperfecta (DI). Although the majority of cases were associated with biallelic variants in TRIP11 , one stu…
View article: RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS Open
SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aid…
View article: Biallelic variants in <i>GTF3C3</i> encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish
Biallelic variants in <i>GTF3C3</i> encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish Open
RNA polymerase III transcribes essential non-coding RNAs, a process regulated by transcription factors TFIIIB and TFIIIC. Although germline variants in TFIIIC subunit genes have been described in a few patients with neurodevelopmental diso…
View article: Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairment
Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairment Open
Biallelic variants in NADH (nicotinamide adenine dinucleotide (NAD) + hydrogen (H))-ubiquinone oxidoreductase 1 alpha subcomplex 13 have been linked to mitochondrial complex I deficiency, nuclear type 28, based on three affected individual…
View article: Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities Open
We identified two homozygous truncating variants in GON4L [NM_001282860.2:c.62_63del, p.(Gln21Argfs*12) and c.5517+1G>A] in two unrelated families who presented prenatal-onset growth impairment, microcephaly, characteristic face, situs inv…
View article: Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings
Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings Open
View article: Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders Open
This study provides a comprehensive characterization of the clinical spectrum of both autosomal recessive and dominant forms of ACTL6B-associated disorders. It offers a comparative analysis of their respective phenotypes provides a plausib…
View article: Biallelic <i>PTPMT1</i> variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
Biallelic <i>PTPMT1</i> variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome Open
Primary mitochondrial diseases (PMDs) are among the most common inherited neurological disorders. They are caused by pathogenic variants in mitochondrial or nuclear DNA that disrupt mitochondrial structure and/or function, leading to impai…
View article: Rückfallprävention bipolarer Störungen: ein clusteranalytischer Ansatz bei einer randomisierten, kontrollierten Psychotherapiestudie
Rückfallprävention bipolarer Störungen: ein clusteranalytischer Ansatz bei einer randomisierten, kontrollierten Psychotherapiestudie Open
Zusammenfassung Anliegen dieser Arbeit ist es, mittels explorativer Auswertungen verschiedene Verlaufstypen bipolarer Störungen und den damit verbundenen Merkmalen zu differenzieren und dabei insbesondere die Rolle von Bipolar-1- und Bipol…
View article: The congenital multiple organ malformation syndrome, Ritscher-Schinzel syndrome is an endosomal recyclinopathy
The congenital multiple organ malformation syndrome, Ritscher-Schinzel syndrome is an endosomal recyclinopathy Open
Ritscher-Schinzel syndrome (RSS) is a congenital malformation syndrome characterized by cerebellar, cardiac, and craniofacial malformations and phenotypes associated with liver, skeletal and kidney dysfunction. The genetic cause of RSS rem…
View article: Biallelic null variants in <i>PNPLA8</i> cause microcephaly by reducing the number of basal radial glia
Biallelic null variants in <i>PNPLA8</i> cause microcephaly by reducing the number of basal radial glia Open
Patatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. Biallelic variants i…
View article: Abnormal dental phenotypes in GAPO syndrome: A descriptive study with a new ANTXR1 variant & insights on teeth eruption
Abnormal dental phenotypes in GAPO syndrome: A descriptive study with a new ANTXR1 variant & insights on teeth eruption Open
The study asserts the importance of oro-dental examination and follow-ups as dental updates may occur in these cases.
View article: Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations
Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations Open
Introduction: Pontocerebellar hypoplasia (PCH) represents a group of rare disorders with prenatal onset and time-dependent loss of brain parenchyma, predominantly affecting the cerebellum and pons with variable involvement of supratentoria…
View article: Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling
Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling Open
View article: New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder
New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder Open
View article: Biallelic variation in the choline and ethanolamine transporter<i>FLVCR1</i>underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
Biallelic variation in the choline and ethanolamine transporter<i>FLVCR1</i>underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders Open
FLVCR1 encodes Feline leukemia virus subgroup C receptor 1 (FLVCR1), a solute carrier (SLC) transporter within the Major Facilitator Superfamily. FLVCR1 is a widely expressed transmembrane protein with plasma membrane and mitochondrial iso…
View article: Novel loss-of-function variants expand <i>ABCC9</i>-related intellectual disability and myopathy syndrome
Novel loss-of-function variants expand <i>ABCC9</i>-related intellectual disability and myopathy syndrome Open
Loss-of-function mutation of ABCC9, the gene encoding the SUR2 subunit of ATP sensitive-potassium (KATP) channels, was recently associated with autosomal recessive ABCC9-related intellectual disability and myopathy syndrome (AIMS). Here we…
View article: RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS Open
SUMMARY SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignm…
View article: Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome Open
View article: A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C Open
View article: Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors Open
MAD2L1BP-encoded p31comet mediates Trip13-dependent disassembly of Mad2- and Rev7-containing complexes and, through this antagonism, promotes timely spindle assembly checkpoint (SAC) silencing, faithful chromosome segregation, insulin sign…
View article: Delineating the phenotype of <i>PNPLA8</i>‐related mitochondriopathies
Delineating the phenotype of <i>PNPLA8</i>‐related mitochondriopathies Open
Pathogenic variants in PNPLA8 have been described either with congenital onset displaying congenital microcephaly, early onset epileptic encephalopathy and early lethality or childhood neurodegeneration with progressive microcephaly. Moreo…
View article: Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disorders
Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disorders Open
MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with s…