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List of works by Ian Blumenthal

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

scientific article

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

scientific article

Clinical diagnosis by whole-genome sequencing of a prenatal sample

scientific article

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

scientific article

Cover Image, Volume 173A, Number 2, February 2017

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities

scientific article

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.

scientific article published on February 2016

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

scientific article published on 25 January 2013

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

scientific article published on April 2012

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

scientific article published on December 2012

Implication of LRRC4C and DPP6 in neurodevelopmental disorders

scientific article published on 19 October 2016

Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs

scientific article published on March 2013

Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars

scientific article published on 10 March 2016

Potential molecular consequences of transgene integration: The R6/2 mouse example

scientific article published on 25 January 2017

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

scientific article published on 19 April 2012

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

scientific article published on 13 October 2016

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families

scientific article

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