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Deciphering Developmental Disorders study

Wellcome Trust Sanger Institute

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Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome

2021 bioRxiv
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A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.

2021 American Journal of Medical Genetics Part A
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Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome.

2020 Clinical Genetics
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NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea

2018 Pediatrics
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Contribution of Retrotransposition to Developmental Disorders

2018 bioRxiv
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A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay

2018 Seizure-european Journal of Epilepsy
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PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

2017 European Journal of Human Genetics
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De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

2015 American Journal of Medical Genetics Part A
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