Invitae

150(top 1%)

papers

6.4K(top 1%)

citations

39(top 1%)

h-index

80(top 1%)

g-index

174

all documents

7.4K

doc citations

1.8K

citing journals

Top Articles

#	Title	Journal	Year	Citations
1	Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria	Genetics in Medicine	2017	530
2	Antibodies to CBir1 Flagellin Define a Unique Response That Is Associated Independently With Complicated Crohn’s Disease	Gastroenterology	2005	439
3	Enhancer–promoter interactions are encoded by complex genomic signatures on looping chromatin	Nature Genetics	2016	369
4	Detection of Cancer with Serum miRNAs on an Oligonucleotide Microarray	PLoS ONE	2009	364
5	Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer	Nature Genetics	2017	356
6	Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment	JAMA Oncology	2015	294
7	An open resource for accurately benchmarking small variant and reference calls	Nature Biotechnology	2019	277
8	Reappraisal of Reported Genes for Sudden Arrhythmic Death	Circulation	2018	271
9	High-resolution metagenomics targets specific functional types in complex microbial communities	Nature Biotechnology	2008	254
10	Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?	Journal of Clinical Oncology	2019	254
11	Identification and Characterization of Human Cytomegalovirus-Encoded MicroRNAs	Journal of Virology	2005	252
12	Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines	JAMA Oncology	2019	240
13	An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome	Circulation	2020	238
14	Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation	Genome Medicine	2017	192
15	Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)	Genetics in Medicine	2018	172
16	Validation of Microsatellite Instability Detection Using a Comprehensive Plasma-Based Genotyping Panel	Clinical Cancer Research	2019	152
17	CombiMatrix oligonucleotide arrays: Genotyping and gene expression assays employing electrochemical detection	Biosensors and Bioelectronics	2007	143
18	Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants	Human Mutation	2018	138
19	Overview of Electrochemical DNA Biosensors: New Approaches to Detect the Expression of Life	Sensors	2009	119
20	Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype	American Journal of Respiratory and Critical Care Medicine	2019	116
21	Nuclear Factor-κB Regulates β-Cell Death	Diabetes	2006	112
22	Immunoassays based on electrochemical detection using microelectrode arrays	Biosensors and Bioelectronics	2004	105
23	Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer	Nature Communications	2016	93
24	ClinVar database of global familial hypercholesterolemia‐associated DNA variants	Human Mutation	2018	84
25	Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease	Genetics in Medicine	2019	83
26	LAMA2gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes	Human Mutation	2018	71
27	Identification of Upper Respiratory Tract Pathogens Using Electrochemical Detection on an Oligonucleotide Microarray	PLoS ONE	2007	64
28	ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?	Prenatal Diagnosis	2018	63
29	Fully Integrated Miniature Device for Automated Gene Expression DNA Microarray Processing	Analytical Chemistry	2006	58
30	Use of Semiconductor-Based Oligonucleotide Microarrays for Influenza A Virus Subtype Identification and Sequencing	Journal of Clinical Microbiology	2006	57
31	Personalized Medicine in the Oncology Clinic: Implementation and Outcomes of the Johns Hopkins Molecular Tumor Board	JCO Precision Oncology	2017	57
32	Self-Assembling Protein Arrays Using Electronic Semiconductor Microchips and in Vitro Translation	Journal of Proteome Research	2003	56
33	The Identification of Alpha-Synuclein as the First Parkinson Disease Gene	Journal of Parkinson's Disease	2017	56
34	Immunoassays and sequence-specific DNA detection on a microchip using enzyme amplified electrochemical detection	Journal of Proteomics	2004	54
35	Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic	Journal of Pediatric Genetics	2017	54
36	Electrochemically Generated Acid and Its Containment to 100 Micron Reaction Areas for the Production of DNA Microarrays	PLoS ONE	2006	53
37	Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach	Human Mutation	2018	50
38	The Removal of thet-BOC Group by Electrochemically Generated Acid and Use of an Addressable Electrode Array for Peptide Synthesis	ACS Combinatorial Science	2005	48
39	Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma	Genetics in Medicine	2020	44
40	Inherited TP53 Variants and Risk of Prostate Cancer	European Urology	2022	40
41	Functioning in situ: gene expression in Methylotenera mobilis in its native environment as assessed through transcriptomics	ISME Journal	2010	38
42	Site-Selectively Functionalizing Microelectrode Arrays: The Use of Cu(I)-Catalysts	Langmuir	2011	29
43	Building addressable libraries: a site-selective click-reaction strategy for rapidly assembling mass spectrometry cleavable linkers	Chemical Communications	2009	28
44	Seasonal Changes in Bacterial and Archaeal Gene Expression Patterns across Salinity Gradients in the Columbia River Coastal Margin	PLoS ONE	2010	28
45	The adaptor disabled-2 binds to the third ΨxNPxY sequence on the cytoplasmic tail of megalin	Biochimie	2004	27
46	Building Addressable Libraries: Site‐Selective Lewis Acid (Scandium(III)) Catalyzed Reactions	Angewandte Chemie - International Edition	2009	27
47	Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy	Cancer	2018	26
48	Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing	JAMA Cardiology	2022	26
49	Multiplexed analyte and oligonucleotide detection on microarrays using several redox enzymes in conjunction with electrochemical detection	Lab on A Chip	2006	25
50	Use of a Multiplexed CMOS Microarray to Optimize and Compare Oligonucleotide Binding to DNA Probes Synthesized or Immobilized on Individual Electrodes	Sensors	2010	24

Profile

Scientometrics

Citing Bodies

Invitae

Top Articles