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Michael E. Talkowski

Michael E. Talkowski

D-Index & Metrics

Genetics

D-Index
69
Citations
38886
World Ranking
2307
National Ranking
1039

Overview

Michael E. Talkowski is affiliated with Harvard University in the United States, focusing extensively on research in biochemistry, genetics, and molecular biology. Their work primarily addresses genetic and molecular mechanisms related to human diseases and developmental disorders.

The scientist's publication record includes a significant number of contributions in genetics and molecular biology, with a particular emphasis on genomics, neurodevelopmental disorders, and chromosomal abnormalities. Their research spans various subfields including genetics, molecular biology, neurology, cellular and molecular neuroscience, and cognitive neuroscience.

Key topics in their research include:

  • Genomic variations and chromosomal abnormalities
  • Genomics and rare diseases
  • Genetics and neurodevelopmental disorders
  • RNA research and splicing
  • Autism spectrum disorder research
  • Genomics and chromatin dynamics
  • Genomics and phylogenetic studies

Michael E. Talkowski has published prominently in several scientific journals, with frequent appearances in:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • European Neuropsychopharmacology
  • The American Journal of Human Genetics
  • Nature Communications
  • Nature

Recent notable papers include:

  • The mutational constraint spectrum quantified from variation in 141,456 humans (2020, Nature)
  • Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2020, Cell)
  • High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios (2022, Cell)
  • Haplotype-resolved diverse human genomes and integrated analysis of structural variation (2021, Science)
  • A genome-wide mutational constraint map quantified from variation in 76,156 human genomes (2022, bioRxiv [Cold Spring Harbor Laboratory])

The scientist regularly collaborates with other researchers, with frequent coauthors including Harrison Brand, Jack Fu, Ryan L. Collins, Serkan Erdin, and Xuefang Zhao. These collaborations reflect their engagement with multidisciplinary teams focusing on genomic research and related fields.

Best Publications

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

    Konrad J. Karczewski;Laurent C. Francioli;Grace Tiao;Beryl B. Cummings

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

    Konrad J. Karczewski;em> ..] Laurent C. Francioli;Daniel G. MacArthur

  • Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    F. Kyle Satterstrom;F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S. Breen

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

    Stephan J. Sanders;Xin He;A. Jeremy Willsey;A. Gulhan Ercan-Sencicek

  • Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

    Phil H. Lee;Verneri Anttila;Hyejung Won;Yen-Chen A. Feng

  • A structural variation reference for medical and population genetics

    Ryan L Collins;Ryan L Collins;Harrison Brand;Harrison Brand;Konrad J Karczewski;Konrad J Karczewski;Xuefang Zhao;Xuefang Zhao

  • Multi-platform discovery of haplotype-resolved structural variation in human genomes

    Mark J.P. Chaisson;Mark J.P. Chaisson;Ashley D. Sanders;Xuefang Zhao;Xuefang Zhao;Ankit Malhotra

  • Haplotype-resolved diverse human genomes and integrated analysis of structural variation.

    Peter Ebert;Peter A. Audano;Qihui Zhu;Bernardo Rodriguez-Martin

  • Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

    Michael E. Talkowski;Jill A. Rosenfeld;Ian Blumenthal;Vamsee Pillalamarri

  • Low Incidence of Off-Target Mutations in Individual CRISPR-Cas9 and TALEN Targeted Human Stem Cell Clones Detected by Whole-Genome Sequencing

    Adrian Veres;Bridget S. Gosis;Qiurong Ding;Ryan Collins

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

    Pankaj Kumar Mandal;Pankaj Kumar Mandal;Leonardo Manuel Ramos Ferreira;Ryan Collins;Torsten B Meissner

  • Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S Breen;Michael S Breen

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

    Christelle Golzio;Jason Willer;Michael E. Talkowski;Edwin C. Oh

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

    Mircea Cretu Stancu;Markus J. van Roosmalen;Ivo Renkens;Marleen M. Nieboer

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

    Aarathi Sugathan;Marta Biagioli;Christelle Golzio;Serkan Erdin

  • Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

    Po-Ru Loh;Po-Ru Loh;Giulio Genovese;Giulio Genovese;Robert E. Handsaker;Robert E. Handsaker;Hilary K. Finucane

  • Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

    Joon Yong An;Kevin Lin;Lingxue Zhu;Donna M. Werling

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

    Claire Redin;Claire Redin;Harrison Brand;Harrison Brand;Ryan L Collins;Ryan L Collins;Tammy Kammin

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

    Colby Chiang;Jessie C Jacobsen;Carl Ernst;Carrie Hanscom

  • Genome wide meta-analysis identifies genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders

    Lee Ph;Anttila;Won H

Frequent Co-Authors

Harrison Brand
Harrison Brand Harvard University
James F. Gusella
James F. Gusella Harvard University
Cynthia C. Morton
Cynthia C. Morton Brigham and Women's Hospital
Bernie Devlin
Bernie Devlin University of Pittsburgh
Mark J. Daly
Mark J. Daly Massachusetts General Hospital
Benjamin M. Neale
Benjamin M. Neale Harvard University
Yiping Shen
Yiping Shen Boston Children's Hospital
Vishwajit L. Nimgaonkar
Vishwajit L. Nimgaonkar University of Pittsburgh
Kathryn Roeder
Kathryn Roeder Carnegie Mellon University
Lambertus Klei
Lambertus Klei University of Pittsburgh

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