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List of works by Michael E. Talkowski

16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro

scientific article published on 18 May 2021

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

scientific article

A network of dopaminergic gene variations implicated as risk factors for schizophrenia

scientific article

A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings

scientific article published on 10 July 2017

A structural variation reference for medical and population genetics

scientific article published on 27 May 2020

Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†

scientific article published on 11 January 2016

An Ancient, Unified Mechanism for Metformin Growth Inhibition in C. elegans and Cancer

scientific article published on December 2016

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

scientific article published on 26 April 2018

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

scientific article

Association and linkage analysis of RGS4 polymorphisms with schizophrenia and bipolar disorder in Brazil

scientific article published in February 2005

Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia

scientific article

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

scientific article

Can RGS4 polymorphisms be viewed as credible risk factors for schizophrenia? A critical review of the evidence

scientific article

Clinical diagnosis by whole-genome sequencing of a prenatal sample

scientific article

Cognitive influences in postural control of patients with unilateral vestibular loss

scientific article published on 01 April 2004

Cognitive requirements for vestibular and ocular motor processing in healthy adults and patients with unilateral vestibular lesions.

scientific article published in September 2005

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia

scientific article published in July 2017

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

scientific article

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

scientific article

Consanguinity associated with increased risk for bipolar I disorder in Egypt

scientific article published on September 2009

Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples

scientific article

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

scientific article

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

scientific article

Design of large-insert jumping libraries for structural variant detection using Illumina sequencing

scientific article

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

scientific article

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

scientific article published on 30 December 2013

Ectopic expression of RAD52 and dn53BP1 improves homology-directed repair during CRISPR-Cas9 genome editing

scientific article published on 09 October 2017

Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9

scientific article

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.

scientific article published on February 2016

Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay.

scientific article published on 6 July 2016

Evaluation of a susceptibility gene for schizophrenia: genotype based meta-analysis of RGS4 polymorphisms from thirteen independent samples

scientific article

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

scientific article published on 12 October 2020

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

scientific article published on 17 January 2013

Fine-mapping reveals novel alternative splicing of the dopamine transporter

scientific article

Functional analysis of upstream common polymorphisms of the dopamine transporter gene.

scientific article

Functional annotation of rare structural variation in the human brain

scientific article published on 12 June 2020

Genetic associations between neuregulin-1 SNPs and neurocognitive function in multigenerational, multiplex schizophrenia families

scientific article published on April 2012

Genetic polymorphisms of the RGS4 and dorsolateral prefrontal cortex morphometry among first episode schizophrenia patients

scientific article published on 01 February 2005

Genome-encoded cytoplasmic double-stranded RNAs, found in <i>C9ORF72</i> ALS-FTD brain, propagate neuronal loss

scientific article published on 01 July 2021

Genomic and functional overlap between somatic and germline chromosomal rearrangements

scientific article published on 11 December 2014

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

scientific article published on December 2012

Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation

scientific article

Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

scientific article published on 19 October 2016

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

scientific article

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

scientific article

Linkage disequilibrium patterns and functional analysis of RGS4 polymorphisms in relation to schizophrenia

scientific article published on 21 May 2007

Loss of δ-catenin function in severe autism

scientific article

Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing.

scientific article

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

scientific article published on 6 November 2017

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

Mosaic copy number variation in schizophrenia

scientific article

Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars

scientific article published on 10 March 2016

Novel, Replicated Associations Between Dopamine D3 Receptor Gene Polymorphisms and Schizophrenia in Two Independent Samples

article

Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder

scientific article published on 10 June 2022

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

scientific article published on 18 June 2015

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

scientific article published on 25 January 2017

Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing.

scientific article

Primary cilia defects causing mitral valve prolapse

scientific article published on 01 May 2019

RGS4 polymorphisms associated with variability of cognitive performance in a family-based schizophrenia sample

scientific article

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

scientific article published on May 2013

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

scientific article

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

scientific article published on 19 April 2012

Serotonin gene polymorphisms and bipolar I disorder: focus on the serotonin transporter

scientific article

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

scientific article published on 13 October 2016

The cell adhesion gene PVRL3 is associated with congenital ocular defects.

scientific article

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

scientific article

The mutational constraint spectrum quantified from variation in 141,456 humans

scientific article published on 27 May 2020

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

scientific article

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

scientific article

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