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SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

Annals of neurology, 2020-08, Vol.88 (2), p.348-362

2020

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Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study

Orphanet journal of rare diseases, 2024-01, Vol.19 (1), p.15-15, Article 15

2024

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A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments

Journal of community genetics, 2024-02, Vol.15 (1), p.39-48

2024

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A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency

Molecular genetics and metabolism reports, 2024-06, Vol.39, p.101078-101078, Article 101078

2024

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ABL1‐related congenital heart defects and skeletal malformations syndrome in a patient from Sub‐Saharan Africa: A case report highlighting novel cardiac features

American journal of medical genetics. Part A, 2023-06, Vol.191 (6), p.1652-1655

2023

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Gordon syndrome: Dental implications and a case report

Special care in dentistry, 2021-11, Vol.41 (6), p.727-734

2021

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Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase

American journal of human genetics, 2024-04, Vol.111 (4), p.729-741

2024

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A recurrent mutation causing Melnick‐Needles syndrome in females confers a severe, lethal phenotype in males

American journal of medical genetics. Part A, 2018-04, Vol.176 (4), p.980-984

2018

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Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype

Molecular genetics & genomic medicine, 2024-01, Vol.12 (1), p.e2342-n/a

2024

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Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia

Familial cancer, 2017-07, Vol.16 (3), p.441-446

2017

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Population‐based prevalence of congenital defects in a routine sentinel site‐based surveillance system in the Western Cape, South Africa

Birth defects research, 2024-08, Vol.116 (8), p.e2388-n/a

2024

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

PLoS genetics, 2017-03, Vol.13 (3), p.e1006683

2017

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Discordant monoamniotic twins with Pena–Shokeir phenotype

Clinical case reports, 2016-10, Vol.4 (10), p.919-921

2016

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A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome

SAMJ: South African Medical Journal, 2016-03, Vol.106 (3), p.272-275

2016

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Implications of direct-to-consumer whole-exome sequencing in South Africa

South African medical journal, 2016-02, Vol.106 (2), p.139-140

2016

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Implications of direct-to-consumer whole-exome sequencing in South Africa : editorial

South African medical journal, 2016-02, Vol.106 (2), p.139-140

2016

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Implications of direct-to-consumer whole-exome sequencing in South Africa

SAMJ: South African Medical Journal, 2016-02, Vol.106 (2), p.139-140

2016

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ABL1-related congenital heart defects and skeletal malformations syndrome in a patient from Sub-Saharan Africa: A case report highlighting novel cardiac features

American journal of medical genetics. Part A, 2023, Vol.191 (6), p.1652-1655

2023

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Gordon syndrome: Dental implications and a case report

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry, 2021, Vol.41 (6), p.727-734

2021

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Discordant monoamniotic twins with Pena-Shokeir phenotype

Clinical case reports, 2016, Vol.4 (10), p.919-921

2016

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SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study

A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments

A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency

ABL1‐related congenital heart defects and skeletal malformations syndrome in a patient from Sub‐Saharan Africa: A case report highlighting novel cardiac features

Gordon syndrome: Dental implications and a case report

Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase

A recurrent mutation causing Melnick‐Needles syndrome in females confers a severe, lethal phenotype in males

Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype

Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia

Population‐based prevalence of congenital defects in a routine sentinel site‐based surveillance system in the Western Cape, South Africa

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Discordant monoamniotic twins with Pena–Shokeir phenotype

A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome

Implications of direct-to-consumer whole-exome sequencing in South Africa

Implications of direct-to-consumer whole-exome sequencing in South Africa : editorial

Implications of direct-to-consumer whole-exome sequencing in South Africa

ABL1-related congenital heart defects and skeletal malformations syndrome in a patient from Sub-Saharan Africa: A case report highlighting novel cardiac features

Gordon syndrome: Dental implications and a case report

Discordant monoamniotic twins with Pena-Shokeir phenotype

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