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Author Details

Wayne W Grody
David Geffen School of Medicine, university of california los angeles
1980
235
51
PMIDPaper TitleJournal TitlePublished Year
37310422Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2023
37628570Large-Scale Whole Genome Sequence Analysis of &gt;22,000 Subjects Provides no Evidence of <i>FMR1</i> Premutation Allele Involvement in Autism Spectrum Disorder.Genes (Basel)2023
37610100A Primer on Gene Editing: What Does It Mean for Pathologists?Arch Pathol Lab Med2023
37603682A Primer on Gene Editing.Arch Pathol Lab Med2023
37445732Synonymous Variants of Uncertain Silence.Int J Mol Sci2023
37382949The Gregor Mendel Bicentennial Tribute-Enduring Mementos of the Founder of Genetics.JAMA2023
35253644Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2022
33238007Memories of Gene Herbek, MD.Arch Pathol Lab Med2021
33674767Addendum: American College of Medical Genetics consensus statement on factor V Leiden mutation testing.Genet Med2021
34478655Response to Biesecker et al.Am J Hum Genet2021
34387706Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.J Mol Med (Berl)2021
34196458Central 22q11.2 deletion (LCR22 B-D) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of CRKL haploinsufficiency in the pathogenesis of 22q11.2 deletion syndrome.Am J Med Genet A2021
32533200Gene-environment regulation of chamber-specific maturation during hypoxemic perinatal circulatory transition.J Mol Med (Berl)2020
31701651Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers.Mol Genet Genomic Med2020
31692161A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.Hum Mutat2020
31774570International perspectives on the implementation of reproductive carrier screening.Prenat Diagn2020
32280589Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome.Mol Genet Metab Rep2020
32497715Electric Field-Induced Release and Measurement (EFIRM): Characterization and Technical Validation of a Novel Liquid Biopsy Platform in Plasma and Saliva.J Mol Diagn2020
32404922CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genet Med2020
30788684Generalized Cytokine Increase in the Setting of a Multisystem Clinical Disorder and Carcinoid Syndrome Associated with a Novel NLRP12 Variant.Dig Dis Sci2019
30842646The transformation of medical genetics by clinical genomics: hubris meets humility.Genet Med2019
29543230Response to Biesecker and Harrison.Genet Med2018
30244526Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis.Am J Med Genet A2018
29982316The Value of T-Cell Receptor γ (TRG) Clonality Evaluation by Next-Generation Sequencing in Clinical Hematolymphoid Tissues.Am J Clin Pathol2018
30309763Electric Field-Induced Release and Measurement Liquid Biopsy for Noninvasive Early Lung Cancer Assessment.J Mol Diagn2018
28012096A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.J Mol Neurosci2017
28388340Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide.J Womens Health (Larchmt)2017
28165529Molecular Biomarkers for the Evaluation of Colorectal Cancer.Am J Clin Pathol2017
28165299Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and the American Society of Clinical Oncology.J Clin Oncol2017
28165284Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology.Arch Pathol Lab Med2017
28350513Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline Summary From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology.J Oncol Pract2017
28185757Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology.J Mol Diagn2017
28492529CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.Genet Med2017
28933790Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?Genet Med2017
28588821Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and <i>MED13L</i> haploinsufficiency syndromes.Clin Case Rep2017
28815200The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care.Acad Pathol2017
26724724Molecular Diagnosis of Cystic Fibrosis.Curr Protoc Hum Genet2016
28868155Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.NPJ Genom Med2016
26542077An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.Genes Chromosomes Cancer2016
28027361Prenatal Carrier Screening-Reply.JAMA2016
27533155Where to Draw the Boundaries for Prenatal Carrier Screening.JAMA2016
27144057The next generation of cancer management.Cancer Biol Med2016
26804925Primary central nervous system gamma delta cytotoxic T-cell lymphoma.J Clin Neurosci2016
25152313College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.Arch Pathol Lab Med2015
25944381DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.Eur J Hum Genet2015
25728775De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.Am J Hum Genet2015
25741868Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Genet Med2015
25817443Instability of a dinucleotide repeat in the 3'-untranslated region (UTR) of the microsomal prostaglandin E synthase-1 (mPGES-1) gene in microsatellite instability-high (MSI-H) colorectal carcinoma.Mol Oncol2015
23992917Carrier screening for cystic fibrosis in the new era of medications that restore CFTR function.Lancet2014
25326637Clinical exome sequencing for genetic identification of rare Mendelian disorders.JAMA2014
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Collaborators

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Co-authored papers 17
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Co-authored papers 15
Johns Hopkins University School of Medicine
Co-authored papers 7
Mayo Clinic
Co-authored papers 5
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The Broad Institute of MIT and Harvard
Co-authored papers 5
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Co-authored papers 5
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Indiana University School of Medicine
Co-authored papers 4
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Co-authored papers 4
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Centers for Disease Control and Prevention
Co-authored papers 3
Invitae Corporation
Co-authored papers 3
Baylor College of Medicine.
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Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
Co-authored papers 3
University of North Carolina
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Co-authored papers 3
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 3
Partners Healthcare Center for Personalized Genetic Medicine
Co-authored papers 2
National Cancer Institute
Co-authored papers 2
University of North Carolina at Chapel Hill
Co-authored papers 2
David Geffen School of Medicine
Co-authored papers 2
University of Maryland School of Medicine
Co-authored papers 2
Clinical Medical Research Center of Hepatic Surgery at Hubei Province
Co-authored papers 2
Baylor College of Medicine
Co-authored papers 2
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David Geffen School of Medicine at university of california los angeles
Co-authored papers 2
Children's Hospital of Philadelphia
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Dartmouth Health and the Dartmouth Cancer Center, USA Geisel School of Medicine
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