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A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia

Clinical genetics, 2023-09, Vol.104 (3), p.356-364

2023

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Delineating the phenotype of PNPLA8‐related mitochondriopathies

Clinical genetics, 2024-01, Vol.105 (1), p.92-98

2024

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Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS

Clinical genetics, 2023-08, Vol.104 (2), p.238-244

2023

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A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management

American journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.39-45

2024

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Refining the phenotypic spectrum of CCDC88A‐related PEHO‐like syndrome

American journal of medical genetics. Part A, 2024-02, Vol.194 (2), p.226-232

2024

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Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum

American journal of medical genetics. Part A, 2022-06, Vol.188 (6), p.1815-1825

2022

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The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children

Clinical genetics, 2024-05, Vol.105 (5), p.510-522

2024

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Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights

Clinical genetics, 2020-11, Vol.98 (5), p.445-456

2020

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CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum

American journal of medical genetics. Part A, 2023-08, Vol.191 (8), p.2100-2112

2023

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Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait

American journal of medical genetics. Part A, 2022-02, Vol.188 (2), p.648-657

2022

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KBG syndrome in two patients from Egypt

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1309-1312

2020

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Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations

Congenital anomalies, 2022-03, Vol.62 (2), p.68-77

2022

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Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2857-2866

2020

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Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification

Prenatal diagnosis, 2020-12, Vol.40 (12), p.1578-1597

2020

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ASAH1‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype

Clinical genetics, 2020-12, Vol.98 (6), p.598-605

2020

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Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations

American journal of medical genetics. Part A, 2016-08, Vol.170A (8), p.2133-2140

2016

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Lenz–Majewski syndrome in a patient from Egypt

American journal of medical genetics. Part A, 2019-10, Vol.179 (10), p.2039-2042

2019

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Phenotypic spectrum of NDE1‐related disorders: from microlissencephaly to microhydranencephaly

American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.494-497

2019

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GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion

American journal of medical genetics. Part A, 2019-02, Vol.179 (2), p.237-242

2019

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Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1407-1420

2020

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Molybdenum Cofactor and Isolated Sulphite Oxidase Deficiencies: Clinical and Molecular Spectrum Among Egyptian Patients

European journal of paediatric neurology, 2016-09, Vol.20 (5), p.714-722

2016

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Phenotypic and molecular insights into PQBP1‐related intellectual disability

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2446-2450

2018

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Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type‐2

American journal of medical genetics. Part A, 2018-05, Vol.176 (5), p.1190-1194

2018

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Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing

Archives of oral biology, 2024-02, Vol.158, p.105869-105869, Article 105869

2024

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Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I

American journal of medical genetics. Part A, 2012-06, Vol.158A (6), p.1455-1461

2012

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A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia

Delineating the phenotype of PNPLA8‐related mitochondriopathies

Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS

A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management

Refining the phenotypic spectrum of CCDC88A‐related PEHO‐like syndrome

Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum

The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children

Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights

CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum

Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait

KBG syndrome in two patients from Egypt

Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations

Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum

Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification

ASAH1‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations

Lenz–Majewski syndrome in a patient from Egypt

Phenotypic spectrum of NDE1‐related disorders: from microlissencephaly to microhydranencephaly

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

Molybdenum Cofactor and Isolated Sulphite Oxidase Deficiencies: Clinical and Molecular Spectrum Among Egyptian Patients

Phenotypic and molecular insights into PQBP1‐related intellectual disability

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type‐2

Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I

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