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13 results on '"Boissiere, J.M."'

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

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

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

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

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

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

7. Expanding SPTAN1monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

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

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

10. Heterozygous UCHL1loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

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

12. Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4through evolutionary conserved vertebrate gene analysis

13. Biallelic CRELD1variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

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