Peter D Turnpenny

None None 4 collaborations

James Fasham 4 collaborations

Joseph S Leslie 4 collaborations

Nishanka Ubeyratna 4 collaborations

Andrew H Crosby 4 collaborations

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Reham Khalaf-Nazzal 4 collaborations

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Meena Balasubramanian 3 collaborations

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Wisam Baker 3 collaborations

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Andrew E Fry 2 collaborations

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Michael J Parker 2 collaborations

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Ingrid Scurr 2 collaborations

Meriel McEntagart 2 collaborations

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Antonio Novelli 2 collaborations

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Michael Wright 2 collaborations

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Rebecca L Poole 2 collaborations

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Gaetan Lesca 2 collaborations

Anita Rauch 2 collaborations

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Laurence Faivre 2 collaborations

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Boris Keren 2 collaborations

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Henry Houlden 2 collaborations

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Reza Maroofian 2 collaborations

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Sahar Mansour 2 collaborations

Anna Durkin 1 collaboration

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Affiliations

Publications (20)

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics.

Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.

Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.

Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos syndrome.

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Further delineation of phenotypic spectrum of SCN2A-related disorder.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.

The Phenotypic Continuum of

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.

Final Exon Frameshift Biallelic

Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.

Réseau de co-auteurs