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Author Details

Robert L Nussbaum
Invitae Corporation
1976
322
87
PMIDPaper TitleJournal TitlePublished Year
36563937A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes.J Mol Diagn2023
37507620Applications of artificial intelligence in clinical laboratory genomics.Am J Med Genet C Semin Med Genet2023
37574391Efficacy of National Comprehensive Cancer Network Guidelines in Identifying Pathogenic Germline Variants Among Unselected Patients with Prostate Cancer: The PROCLAIM Trial.Eur Urol Oncol2023
37181954Universal Genetic Testing vs. Guideline-Directed Testing for Hereditary Cancer Syndromes Among Traditionally Underrepresented Patients in a Community Oncology Program.Cureus2023
36933558Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.Am J Hum Genet2023
36798224Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.bioRxiv2023
34714385Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions.Pediatr Cardiol2022
35488122Correction: Germline alterations among Hispanic men with prostate cancer.Prostate Cancer Prostatic Dis2022
35783293The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.Front Genet2022
35626031Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond <i>BRCA1</i> and <i>BRCA2</i> in Breast and Ovarian Cancer Patients.Cancers (Basel)2022
36315135Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.JAMA Neurol2022
36108258Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer.JCO Precis Oncol2022
36279135Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer.JAMA Netw Open2022
35867948Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.JCO Glob Oncol2022
35947370Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.JAMA Cardiol2022
33857637Germline Cancer Susceptibility Gene Testing in Unselected Patients With Colorectal Adenocarcinoma: A Multicenter Prospective Study.Clin Gastroenterol Hepatol2022
35043109The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies.Res Sq2022
35122589Germline Cancer Testing in Unselected Patients with Gastric and Esophageal Cancers: A Multi-center Prospective Study.Dig Dis Sci2022
34863587Inherited TP53 Variants and Risk of Prostate Cancer.Eur Urol2022
35228665Germline alterations among Hispanic men with prostate cancer.Prostate Cancer Prostatic Dis2022
34782326Germline Cancer Susceptibility Gene Testing in Unselected Patients with Hepatobiliary Cancers: A Multi-Center Prospective Study.Cancer Prev Res (Phila)2022
32873930Correspondence on "Is there a duty to reinterpret genetic data? The ethical dimensions" by Appelbaum et al.Genet Med2021
33829027Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic Markers.Front Med (Lausanne)2021
33743207Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation.Am J Hum Genet2021
33517668Common Variants in <i>KCNE1, KCNH2</i>, and <i>SCN5A</i> May Impact Cardiac Arrhythmia Risk.Circ Genom Precis Med2021
34735417Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits.Obstet Gynecol2021
34408292Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy.Genet Med2021
34732190Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.BMC Med2021
34585040Underdiagnosis of Hereditary Colorectal Cancers Among Medicare Patients: Genetic Testing Criteria for Lynch Syndrome Miss the Mark.JCO Precis Oncol2021
34404389Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.BMC Med2021
34461735Presence of the V122I Variant of Hereditary Transthyretin-Mediated Amyloidosis Among Self-Reported White Individuals in a Sponsored Genetic Testing Program.Circ Genom Precis Med2021
34459253<i>ATP1A3</i>-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.J Am Heart Assoc2021
34620795Clinical Impact of Pathogenic Germline Variants in Pancreatic Cancer: Results From a Multicenter, Prospective, Universal Genetic Testing Study.Clin Transl Gastroenterol2021
34413140X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.Sci Immunol2021
34214447Shifting landscapes of human MTHFR missense-variant effects.Am J Hum Genet2021
34037665Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.JAMA Cardiol2021
34120153The genetic architecture of Plakophilin 2 cardiomyopathy.Genet Med2021
34057205Challenges in providing residual risks in carrier testing.Prenat Diagn2021
34007000One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.Genet Med2021
34171218The evolving role of germline genetic testing and management in prostate cancer: Report from the Princess Margaret Cancer Centre international retreat.Can Urol Assoc J2021
33191601Chatbots &amp; artificial intelligence to scale genetic information delivery.J Genet Couns2021
33300982Prioritizing genes for systematic variant effect mapping.Bioinformatics2021
33126242Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome.JAMA Oncol2021
32337338Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.Neurol Genet2020
31899541Functional phenotype variations of two novel K<sub>V</sub> 7.1 mutations identified in patients with Long QT syndrome.Pacing Clin Electrophysiol2020
33026450Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.JAMA Netw Open2020
32802992Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.Int J Neonatal Screen2020
32619490Management of Secondary Genomic Findings.Am J Hum Genet2020
32778825The role of exome sequencing in newborn screening for inborn errors of metabolism.Nat Med2020
30610921A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing.J Mol Diagn2019
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Collaborators

Edward D Esplin
Invitae Corporation
Co-authored papers 29
Javier Ben??tez
Instituto de Salud Carlos III
Co-authored papers 28
Georgia Chenevix-Trench
QIMR Berghofer Medical Research Institute
Co-authored papers 28
Judy E Garber
Dana-Farber Cancer Institute
Co-authored papers 28
Irene L Andrulis
University of Toronto
Co-authored papers 27
Fergus J Couch
Mayo Clinic
Co-authored papers 26
Douglas F Easton
University of Cambridge
Co-authored papers 26
Beth Y Karlan
David Geffen School of Medicine, University of California los angeles
Co-authored papers 25
Katherine L Nathanson
Perelman School of Medicine, University of Pennsylvania, USA Abramson Cancer Center
Co-authored papers 24
Paolo Radice
Ospedale Circolo e Fondazione Macchi
Co-authored papers 24
Susan M Domchek
Co-authored papers 22
Claudine Isaacs
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Ana Osorio
Familial Cancer Clinical Unit, Spanish National Cancer Research Centre
Co-authored papers 21
David E Goldgar
University of Utah
Co-authored papers 21
Jenny Lester
David Geffen School of Medicine, University of California at Los Angeles
Co-authored papers 20
Jan Lubinski
Pomeranian Medical University
Co-authored papers 20
Mary Beth Terry
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Jacek Gronwald
International Hereditary Cancer Center, Pomeranian Medical University
Co-authored papers 19
David H Ledbetter
University of Florida, College of Medicine-Jacksonville
Co-authored papers 19
Peter J Hulick
Neaman Center for Personalized Medicine, NorthShore University HealthSystem
Co-authored papers 18
Siranoush Manoukian
Fondazione IRCCS Istituto Nazionale dei Tumori
Co-authored papers 18
Susan J Ramus
School of Clinical Medicine, University of NSW Sydney, Lowy Cancer Research Centre
Co-authored papers 18
Amanda B Spurdle
QIMR Berghofer Medical Research Institute
Co-authored papers 17
Esther M John
Co-authored papers 16
Paul D P Pharoah
Center for Cancer Genetic Epidemiology, University of Cambridge
Co-authored papers 16
Simon A Gayther
Cedars-Sinai Medical Center
Co-authored papers 16
Sue Healey
QIMR Berghofer Medical Research Institute
Co-authored papers 15
Diether Lambrechts
Co-authored papers 14
Noralane M Lindor
Mayo Clinic
Co-authored papers 13
Jenny Chang-Claude
German Cancer Research Center (DKFZ)
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Release 1.2