Christopher A. Walsh

Journal ArticleDOI

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

- 06 Jun 2019 -

TL;DR: Clinical and genetic evaluations of two children of different ethnicities and Whole-exome and -genome sequencing revealed a de novo c.2144A>G variant in CLCN7 that supports the hypothesis that the ClC-7 antiporter plays a critical role in maintaining lysosomal pH.

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Journal ArticleDOI

X-linked female band heterotopia-male lissencephaly syndrome

Michel J. Berg, +7 more

- 01 Apr 1998 -

Neurology

TL;DR: Postmortem examination of the boy revealed classical lissencephaly and simplified and discontinuous inferior olives without inferior olivary heterotopia, suggesting that the absence of inferior o Olivaryheterotopia may distinguish X-linked lissENCEphaly from other conditions with classic lissencesphaly such as Miller-Dieker syndrome.

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Journal ArticleDOI

Accurate detection of mosaic variants in sequencing data without matched controls

Yanmei Dou, +14 more

- 06 Jan 2020 -

Nature Biotechnology

TL;DR: MosaicForecast is presented, a machine-learning method that leverages read-based phasing and read-level features to accurately detect mosaic single-nucleotide variants and indels, achieving a multifold increase in specificity compared with existing algorithms.

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Journal ArticleDOI

Loss of PCLO function underlies pontocerebellar hypoplasia type III

Mustafa Y. Ahmed, +18 more

- 28 Apr 2015 -

Neurology

TL;DR: It is shown that a homozygous, nonsense PCLO mutation underlies the autosomal recessive neurodegenerative disorder, PCH3, and that PCLO is crucial for the development and survival of a wide range of neuronal types in the human brain.

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Journal ArticleDOI

A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype

Noelle D. Dwyer, +11 more

- 07 Jan 2011 -

Neural Development

TL;DR: The creation of a robust axonal reporter enabled sensitive analysis of a specific axon tract inside the mouse brain, identifying mutant phenotypes at multiple steps of the pathway, and revealing a new aspect of the Emx2 mutant.

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Papers

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

X-linked female band heterotopia-male lissencephaly syndrome

Accurate detection of mosaic variants in sequencing data without matched controls

Loss of PCLO function underlies pontocerebellar hypoplasia type III

A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype