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Genetics for paediatric radiologists

Pediatric radiology, 2020-11, Vol.50 (12), p.1680-1690

2020

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Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature

Bone (New York, N.Y.), 2019-04, Vol.121, p.191-195

2019

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DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability

European journal of medical genetics, 2020-04, Vol.63 (4), p.103798-103798, Article 103798

2020

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SG13 Managing cutaneous manifestations of FH-associated tumour predisposition syndrome: a systematic review of case reports

British journal of dermatology (1951), 2024-06, Vol.191 (Supplement_1), p.i187-i187

2024

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SG03 A case of Bazex–Dupré–Christol syndrome (BDCS)

British journal of dermatology (1951), 2024-06, Vol.191 (Supplement_1), p.i182-i182

2024

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Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis

British journal of dermatology (1951), 2024-06, Vol.191 (Supplement_1), p.i186-i187

2024

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Mosaic Muir Torre Syndrome: Keratoacanthoma as a Piece of the Puzzle

The American journal of dermatopathology, 2024-03, Vol.46 (3), p.162-166

2024

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Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?

Gene, 2019-02, Vol.685, p.50-54

2019

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Coexistence of multiple self-healing squamous epithelioma and features of Loeys-Dietz syndrome caused by a pathogenic missense variant in the kinase domain of TGFBR1

Clinical and experimental dermatology, 2024-05, Vol.49 (6), p.665-669

2024

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Expanding the molecular basis and phenotypic spectrum of ZDHHC9‐associated X‐linked intellectual disability

American journal of medical genetics. Part A, 2018-05, Vol.176 (5), p.1238-1244

2018

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The Imbalance in Medico-Legal Cover Awareness and Uptake Between Overseas Junior Doctors and Local Graduates in the NHS

Curēus (Palo Alto, CA), 2021-02

2021

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Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation

Journal of clinical sleep medicine, 2017-11, Vol.13 (11), p.1359-1362

2017

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Clinical and molecular characterization of the first familial report of 1p32 microdeletion

Clinical dysmorphology, 2018-04, Vol.27 (2), p.36-41

2018

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Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy

Neuromuscular disorders : NMD, 2021-04, Vol.31 (4), p.359-366

2021

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Homozygosity for the pathogenic RET hotspot variant p.Cys634Trp: A consanguineous family with MEN2A

European journal of medical genetics, 2021-02, Vol.64 (2), p.104141-104141, Article 104141

2021

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Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.29-36

2023

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Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1

European journal of medical genetics, 2019-04, Vol.62 (4), p.243-247

2019

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Mosaicism in ASXL3-related syndrome: Description of five patients from three families

European journal of medical genetics, 2020-06, Vol.63 (6), p.103925-103925, Article 103925

2020

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Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK

European journal of medical genetics, 2022-10, Vol.65 (10), p.104592-104592, Article 104592

2022

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Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

American journal of medical genetics. Part A, 2021-11, Vol.185 (11), p.3446-3458

2021

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Genetics for paediatric radiologists

Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature

DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability

SG13 Managing cutaneous manifestations of FH-associated tumour predisposition syndrome: a systematic review of case reports

SG03 A case of Bazex–Dupré–Christol syndrome (BDCS)

Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis

Mosaic Muir Torre Syndrome: Keratoacanthoma as a Piece of the Puzzle

Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?

Coexistence of multiple self-healing squamous epithelioma and features of Loeys-Dietz syndrome caused by a pathogenic missense variant in the kinase domain of TGFBR1

Expanding the molecular basis and phenotypic spectrum of ZDHHC9‐associated X‐linked intellectual disability

The Imbalance in Medico-Legal Cover Awareness and Uptake Between Overseas Junior Doctors and Local Graduates in the NHS

Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation

Clinical and molecular characterization of the first familial report of 1p32 microdeletion

Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy

Homozygosity for the pathogenic RET hotspot variant p.Cys634Trp: A consanguineous family with MEN2A

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1

Mosaicism in ASXL3-related syndrome: Description of five patients from three families

Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK

SDHC phaeochromocytoma and paraganglioma: A UK‐wide case series

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

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