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Genetics

D-Index
73
Citations
36907
World Ranking
1999
National Ranking
909

Overview

Christa Lese Martin is affiliated with the Geisinger Health System in the United States. Their research primarily focuses on fields within Biochemistry, Genetics, and Molecular Biology, with substantial work in Medicine. The main subfields emphasized include Genetics, Molecular Biology, Cancer Research, Pathology and Forensic Medicine, and Cognitive Neuroscience.

The core topics that characterize their research account for Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Genetics and Neurodevelopmental Disorders, Genetic factors in colorectal cancer, Autism Spectrum Disorder Research, and BRCA gene mutations in cancer.

Christa Lese Martin has contributed numerous papers to academic literature, including significant publications in the journal Genetics in Medicine. Notable recent papers are:

  • ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG), 2021, Genetics in Medicine
  • ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG), 2023, Genetics in Medicine
  • ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG), 2022, Genetics in Medicine
  • Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG), 2021, Genetics in Medicine
  • Insufficient Evidence for "Autism-Specific" Genes, 2020, The American Journal of Human Genetics

The scientist frequently publishes in venues such as Genetics in Medicine, UNC Libraries, Genetics in Medicine Open, bioRxiv (Cold Spring Harbor Laboratory), and JAMA. These publication venues show a consistent engagement with journals that focus on genetics, genomics, and medical research.

Collaboration forms a significant element of their research output. Frequent co-authors include David H. Ledbetter, Erin Rooney Riggs, Matthew T. Oetjens, Scott M. Myers, and David T. Miller. The recurring collaborations indicate a multidisciplinary approach within the genetics and genomics research community.

Best Publications

  • Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

    David T. Miller;Margaret P. Adam;Margaret P. Adam;Swaroop Aradhya;Leslie G. Biesecker

  • ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

    Robert C. Green;Robert C. Green;Jonathan S. Berg;Wayne W. Grody;Sarah S. Kalia

  • Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

    S. Hong Lee;Stephan Ripke;Stephan Ripke;Benjamin M. Neale;Benjamin M. Neale;Stephen V. Faraone

  • Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics

    Sarah S. Kalia;Kathy Adelman;Sherri J. Bale;Wendy K. Chung

  • Chromosomal microarray versus karyotyping for prenatal diagnosis

    Ronald J. Wapner;Christa Lese Martin;Brynn Levy;Blake C. Ballif

  • 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

  • Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

    Stephan J. Sanders;A. Gulhan Ercan-Sencicek;Vanessa Hus;Rui Luo

  • Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

    Erin Rooney Riggs;Erica F. Andersen;Erica F. Andersen;Athena M. Cherry;Sibel Kantarci

  • ClinGen — The Clinical Genome Resource

    Heidi L. Rehm;Jonathan S. Berg;Lisa D. Brooks;Carlos D. Bustamante

  • Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

    Maricela Alarcón;Brett S. Abrahams;Jennifer L. Stone;Jacqueline A. Duvall

  • The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

    Sebastian Köhler;Sandra C. Doelken;Christopher J. Mungall;Sebastian Bauer

  • Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

    Richard J.L. Anney;Richard J.L. Anney;Stephan Ripke;Stephan Ripke;Stephan Ripke;Verneri Anttila;Jakob Grove;Jakob Grove

  • Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

    Colm O'Dushlaine;Lizzy Rossin;Phil H. Lee;Laramie Duncan;Laramie Duncan

  • Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.

    Siddharth Srivastava;Jamie A. Love-Nichols;Kira A. Dies;David H. Ledbetter

  • An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

    Erin B. Kaminsky;Vineith Kaul;Justin Paschall;Deanna M. Church

  • Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

    Natasha T. Strande;Erin Rooney Riggs;Adam H. Buchanan;Ozge Ceyhan-Birsoy

  • Common genetic variants, acting additively, are a major source of risk for autism

    Lambertus Klei;Stephan J Sanders;Michael T Murtha;Vanessa Hus

  • Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).

    David T. Miller;Kristy Lee;Wendy K. Chung;Adam S. Gordon

  • Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

    J B Ravnan;J H Tepperberg;P Papenhausen;A N Lamb

  • Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene. Commentary

    Dietrich A. Stephan;Maricela Alarcon;Brett S. Abrahams;Jennifer L. Stone

Frequent Co-Authors

David H. Ledbetter
David H. Ledbetter University of Florida
Heidi L. Rehm
Heidi L. Rehm Brigham and Women's Hospital
Daniel H. Geschwind
Daniel H. Geschwind University of California, Los Angeles
Wendy K. Chung
Wendy K. Chung Columbia University
Christopher A. Walsh
Christopher A. Walsh Howard Hughes Medical Institute
Raphael Bernier
Raphael Bernier University of Washington
Arthur L. Beaudet
Arthur L. Beaudet Baylor College of Medicine
Edwin H. Cook
Edwin H. Cook University of Illinois at Chicago
Matthew W. State
Matthew W. State University of California, San Francisco
Jonathan S. Berg
Jonathan S. Berg University of North Carolina at Chapel Hill

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