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12 results on '"Boardman-Pretty, F."'

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1. A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project

2. Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

3. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

4. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

5. Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

6. Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

7. Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis

8. Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

9. Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

10. DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

11. De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

12. Novel GDF2 Loss of Function Variant in a Family with HHT and PAVMs Expands the Phenotype Associated with BMP9 Dysfunction

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