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Genetic Basis of Polycystic Ovary Syndrome (PCOS): Current Perspectives

Application of clinical genetics, 2019-01, Vol.12, p.249-260

2019

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Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy

BMC medical genomics, 2022-04, Vol.15 (1), p.88-88, Article 88

2022

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Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder

Scientific reports, 2024-03, Vol.14 (1), p.5765-5765, Article 5765

2024

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family

Scientific reports, 2018-11, Vol.8 (1), p.16280-7, Article 16280

2018

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Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip

BMC medical genetics, 2017-03, Vol.18 (1), p.34-34, Article 34

2017

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A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis‐2 with impaired intellectual development

American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.355-361

2021

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Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment

Journal of human genetics, 2021-12, Vol.66 (12), p.1169-1175

2021

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A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration

American journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1075-1082

2022

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Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis

Frontiers in genetics, 2024-08, Vol.15, p.1421943

2024

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Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis

Clinical and experimental dermatology, 2022-06, Vol.47 (6), p.1137-1143

2022

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First macrocyclic 3 rd -generation ALK inhibitor for treatment of ALK/ROS1 cancer: Clinical and designing strategy update of lorlatinib

European journal of medicinal chemistry, 2017-07, Vol.134, p.348-356

2017

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KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption

Scientific reports, 2019-11, Vol.9 (1), p.16469-10, Article 16469

2019

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Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny

Journal of human genetics, 2018-01, Vol.63 (1), p.97-100

2018

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Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families

Journal of human genetics, 2016-03, Vol.61 (3), p.207-213

2016

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Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family

Brain & development (Tokyo. 1979), 2020-09, Vol.42 (8), p.587-593

2020

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A homozygous missense variant in the homeobox domain of the NKX6‐2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations

The journal of gene medicine, 2020-08, Vol.22 (8), p.e3196-n/a

2020

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Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant

PloS one, 2021-02, Vol.16 (2), p.e0246607-e0246607

2021

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Identification of Novel and Recurrent Variants in BTD , GBE1 , AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia

Journal of clinical medicine, 2024-02, Vol.13 (5), p.1193

2024

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Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.2

Congenital anomalies, 2018-03, Vol.58 (2), p.56-61

2018

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Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women

Biomedicines, 2024-04, Vol.12 (4), p.785

2024

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Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up

Biomedicines, 2023-11, Vol.11 (11), p.2983

2023

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Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency

Medicina (Kaunas, Lithuania), 2023-02, Vol.59 (3), p.474

2023

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UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan

Journal of dermatological science, 2019-09, Vol.95 (3), p.113-118

2019

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Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly

Congenital anomalies, 2020-07, Vol.60 (4), p.115-119

2020

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Genetic Basis of Polycystic Ovary Syndrome (PCOS): Current Perspectives

Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy

Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family

Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip

A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis‐2 with impaired intellectual development

Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment

A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis

First macrocyclic 3 rd -generation ALK inhibitor for treatment of ALK/ROS1 cancer: Clinical and designing strategy update of lorlatinib

KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption

Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny

Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families

Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family

A homozygous missense variant in the homeobox domain of the NKX6‐2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant

Identification of Novel and Recurrent Variants in BTD , GBE1 , AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia

Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.2

Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women

Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up

Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency

UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan

Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly

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