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Nov 12, 2014

Study Teases Out Truly Drug-sensitive ALK Mutations ahead of Neuroblastoma Phase III Trial

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NEW YORK (Genomeweb) — A study comprehensively analyzing the genomes of more than 1,500 neuroblastoma cases has better determined the prognostic significance of ALK mutations and other alterations in neuroblastoma, and has biochemically investigated many of these variants to determine which ones

Sep 26, 2014

Researchers Link De Novo Mutations to Epileptic Encephalopathies

NEW YORK (GenomeWeb) – In the American Journal of Human Genetics, researchers from three consortia report a prominent role for de novo mutations in epileptic encephalopathies.

Jun 06, 2014

CHOP-led Team Describes Altered Autism Networks

NEW YORK (GenomeWeb News) – A Children's Hospital of Philadelphia-led team has identified autism spectrum disorder-related changes in three interacting gene sets, spelling out details about the biological processes behind the neuropsychiatric conditions.

Jun 04, 2014

CORRECTION: Omixon, CHOP to Commercialize New HLA Genotyping Assay for MiSeq

This article has been corrected to list all of the genes targeted by the assay. The previous version noted only one of them.

Mar 27, 2014

ACMG Talk Spells Out Details of Medical Exome Project

NASHVILLE, Tenn.

Mar 27, 2014

ACMG Session Highlights Progress Made by CSER Projects

NASHVILLE, Tenn.

Mar 07, 2014

Friedreich's Ataxia Center of Excellence Created with $3.25M Gift

NEW YORK (GenomeWeb News) – The Penn Medicine/CHOP Friedreich's Ataxia Center of Excellence has been created with a $3.25 million gift from the Friedreich's Ataxia Research Alliance (FARA) in partnership with the Hamilton and Finneran families.

Feb 26, 2014

CHOP Launches NGS-based HLA Typing Service

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The Children's Hospital of Philadelphia has begun offering next-gen sequencing-based HLA typing services internally.

Nov 18, 2013

Researchers Link Variant to Severe Childhood Asthma

NEW YORK (GenomeWeb News) – An international team of researchers has homed in on a novel gene variant linked to severe asthma in children, as it reported in Nature Genetics yesterday.

Oct 09, 2013

People in the News: Toumy Guettouche

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The Children's Hospital of Philadelphia has named Toumy Guettouche a senior scientist and director of sequencing within CHOP's Center for Applied Genomics. He reports to Hakon Hakonarson, who heads the center.

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The Scan

Hundreds and Hundreds Retracted

The Washington Post reports that a Russian Academy of Sciences commission has led to the retraction of hundreds of scientific papers.

Guilty Plea in Kickback Case

The Los Angeles Times' Daily Pilot reports the chief executive of Vantari Genetics has pleaded guilty in a kickback scheme.

Florida Bill Moves Ahead

News 4 Jax reports that a Florida bill to prevent life and long-term care insurers from using genetic information in their coverage decisions has easily passed one committee.

Science Presents Studies Into Disease-Causing Mutations Among Bone Marrow Donors; Links Between Heavy Drinking, Other Disease

In Science this week: potentially pathogenic mutations found in hematopoietic stem cells from young healthy donors, and more.

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