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Author Details

Christa Lese Martin
Autism and Developmental Medicine Institute
1995
160
63
PMIDPaper TitleJournal TitlePublished Year
36609147Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.Genet Med2023
37066232Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.medRxiv2023
36475376Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System Population.Am J Psychiatry2023
36648468Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism.JAMA2023
36877506Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.JAMA Pediatr2023
34694049Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.Hum Mutat2022
35616647Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.Genet Med2022
35802134ACMG 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).Genet Med2022
35507016The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.Genet Med2022
35692820A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System.Front Genet2022
35236119Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology.Am J Psychiatry2022
34007001Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.Genet Med2021
33576083Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.Am J Med Genet C Semin Med Genet2021
33731880Correction: 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).Genet Med2021
33528536Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.JAMA2021
33773394All for one and one for all: heterogeneity of genetic etiologies in neurodevelopmental psychiatric disorders.Curr Opin Genet Dev2021
34746851Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records.JACC CardioOncol2021
34345026Correction 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).Genet Med2021
34062946Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses.J Pers Med2021
34012069Recommendations 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).Genet Med2021
34012068ACMG 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).Genet Med2021
34342000Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report.Ann N Y Acad Sci2021
32544666Long overdue: including adults with brain disorders in precision health initiatives.Curr Opin Genet Dev2020
31754268Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.Genet Med2020
31690835Technical 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).Genet Med2020
33157005Response to Buxbaum et al.Am J Hum Genet2020
32601386Clinical outcomes of a genomic screening program for actionable genetic conditions.Genet Med2020
32597026Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.Autism Res2020
32728138Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.Genet Med2020
32697297Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population.JAMA Psychiatry2020
32359473Insufficient Evidence for "Autism-Specific" Genes.Am J Hum Genet2020
31519145Within-task variability on standardized language tests predicts autism spectrum disorder: a pilot study of the Response Dispersion Index.J Neurodev Disord2019
30181607Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.Genet Med2019
29899502Development of a consent resource for genomic data sharing in the clinical setting.Genet Med2019
31182824Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.Genet Med2019
31548702A framework for the investigation of rare genetic disorders in neuropsychiatry.Nat Med2019
29323668Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2018
29915380Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genet Med2018
30095202Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.Hum Mutat2018
30311389ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.Hum Mutat2018
30311382Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.Hum Mutat2018
30311381The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.Hum Mutat2018
30311371ClinGen's GenomeConnect registry enables patient-centered data sharing.Hum Mutat2018
29437798Points to consider for sharing variant-level information from clinical genetic testing with ClinVar.Cold Spring Harb Mol Case Stud2018
29733722Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience.Health Aff (Millwood)2018
29130143Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities.J Genet Couns2018
27862088Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions.Prenat Diagn2017
28406491Response to Biesecker.Genet Med2017
28492529CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.Genet Med2017
28851762ClinVar Is a Critical Resource to Advance Variant Interpretation.Oncologist2017
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Collaborators

David H Ledbetter
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Erin Rooney Riggs
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Heidi L Rehm
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Daniel H Geschwind
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Yale School of Medicine
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Lambertus Klei
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Timothy W Yu
Harvard Medical School
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Arthur Jeremy Willsey
University of California san francisco
Co-authored papers 7
William B Dobyns
University of Minnesota
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Eric Fombonne
Oregon Health & Science University (OHSU)
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Catherine Lord
University of California los angeles
Co-authored papers 7
Ellen Hanson
Boston Children's Hospital and Harvard Medical School
Co-authored papers 7
Donna M Martin
University of Michigan ann arbor
Co-authored papers 6
Helen V Firth
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Co-authored papers 6
Arthur L Beaudet
Baylor College of Medicine
Co-authored papers 6
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 6
Release 1.2