| 37310422 | Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG). | Genet Med | 2023 |
| 37628570 | Large-Scale Whole Genome Sequence Analysis of >22,000 Subjects Provides no Evidence of <i>FMR1</i> Premutation Allele Involvement in Autism Spectrum Disorder. | Genes (Basel) | 2023 |
| 37610100 | A Primer on Gene Editing: What Does It Mean for Pathologists? | Arch Pathol Lab Med | 2023 |
| 37603682 | A Primer on Gene Editing. | Arch Pathol Lab Med | 2023 |
| 37445732 | Synonymous Variants of Uncertain Silence. | Int J Mol Sci | 2023 |
| 37382949 | The Gregor Mendel Bicentennial Tribute-Enduring Mementos of the Founder of Genetics. | JAMA | 2023 |
| 35253644 | Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG). | Genet Med | 2022 |
| 33238007 | Memories of Gene Herbek, MD. | Arch Pathol Lab Med | 2021 |
| 33674767 | Addendum: American College of Medical Genetics consensus statement on factor V Leiden mutation testing. | Genet Med | 2021 |
| 34478655 | Response to Biesecker et al. | Am J Hum Genet | 2021 |
| 34387706 | Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome. | J Mol Med (Berl) | 2021 |
| 34196458 | Central 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 A | 2021 |
| 32533200 | Gene-environment regulation of chamber-specific maturation during hypoxemic perinatal circulatory transition. | J Mol Med (Berl) | 2020 |
| 31701651 | Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers. | Mol Genet Genomic Med | 2020 |
| 31692161 | A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. | Hum Mutat | 2020 |
| 31774570 | International perspectives on the implementation of reproductive carrier screening. | Prenat Diagn | 2020 |
| 32280589 | Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome. | Mol Genet Metab Rep | 2020 |
| 32497715 | Electric Field-Induced Release and Measurement (EFIRM): Characterization and Technical Validation of a Novel Liquid Biopsy Platform in Plasma and Saliva. | J Mol Diagn | 2020 |
| 32404922 | CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG). | Genet Med | 2020 |
| 30788684 | Generalized Cytokine Increase in the Setting of a Multisystem Clinical Disorder and Carcinoid Syndrome Associated with a Novel NLRP12 Variant. | Dig Dis Sci | 2019 |
| 30842646 | The transformation of medical genetics by clinical genomics: hubris meets humility. | Genet Med | 2019 |
| 29543230 | Response to Biesecker and Harrison. | Genet Med | 2018 |
| 30244526 | Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis. | Am J Med Genet A | 2018 |
| 29982316 | The Value of T-Cell Receptor γ (TRG) Clonality Evaluation by Next-Generation Sequencing in Clinical Hematolymphoid Tissues. | Am J Clin Pathol | 2018 |
| 30309763 | Electric Field-Induced Release and Measurement Liquid Biopsy for Noninvasive Early Lung Cancer Assessment. | J Mol Diagn | 2018 |
| 28012096 | A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant. | J Mol Neurosci | 2017 |
| 28388340 | Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide. | J Womens Health (Larchmt) | 2017 |
| 28165529 | Molecular Biomarkers for the Evaluation of Colorectal Cancer. | Am J Clin Pathol | 2017 |
| 28165299 | Molecular 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 Oncol | 2017 |
| 28165284 | Molecular 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 Med | 2017 |
| 28350513 | Molecular 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 Pract | 2017 |
| 28185757 | Molecular 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 Diagn | 2017 |
| 28492529 | CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. | Genet Med | 2017 |
| 28933790 | Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? | Genet Med | 2017 |
| 28588821 | Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and <i>MED13L</i> haploinsufficiency syndromes. | Clin Case Rep | 2017 |
| 28815200 | The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care. | Acad Pathol | 2017 |
| 26724724 | Molecular Diagnosis of Cystic Fibrosis. | Curr Protoc Hum Genet | 2016 |
| 28868155 | Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. | NPJ Genom Med | 2016 |
| 26542077 | An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study. | Genes Chromosomes Cancer | 2016 |
| 28027361 | Prenatal Carrier Screening-Reply. | JAMA | 2016 |
| 27533155 | Where to Draw the Boundaries for Prenatal Carrier Screening. | JAMA | 2016 |
| 27144057 | The next generation of cancer management. | Cancer Biol Med | 2016 |
| 26804925 | Primary central nervous system gamma delta cytotoxic T-cell lymphoma. | J Clin Neurosci | 2016 |
| 25152313 | College of American Pathologists' laboratory standards for next-generation sequencing clinical tests. | Arch Pathol Lab Med | 2015 |
| 25944381 | DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. | Eur J Hum Genet | 2015 |
| 25728775 | De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. | Am J Hum Genet | 2015 |
| 25741868 | Standards 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 Med | 2015 |
| 25817443 | Instability 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 Oncol | 2015 |
| 23992917 | Carrier screening for cystic fibrosis in the new era of medications that restore CFTR function. | Lancet | 2014 |
| 25326637 | Clinical exome sequencing for genetic identification of rare Mendelian disorders. | JAMA | 2014 |