Philip M. Boone

Medical Genetics

300 Longwood Ave
Boston, MA 02115

Last Updated: 09/26/2026

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Found 44 publications

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

Journal: medRxiv : the preprint server for health sciences

Published: July 03, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling.

CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling.

Journal: HGG advances

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: January 13, 2026

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Journal: medRxiv : the preprint server for health sciences

Published: December 03, 2025

CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling.

CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling.

Journal: bioRxiv : the preprint server for biology

Published: November 24, 2025

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.

Journal: HGG advances

Published: November 02, 2025

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Journal: Nature communications

Published: October 17, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Showing 1-12 of 44

Last Updated: 09/26/2026