6.2(top 5%)
impact factor
4.4K(top 5%)
papers
182.8K(top 2%)
citations
168(top 2%)
h-index
6.9(top 5%)
impact factor
5.7K
all documents
200.4K
doc citations
299(top 2%)
g-index

Top Articles

#TitleJournalYearCitations
1Standards 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 PathologyGenetics in Medicine201520,455
2ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencingGenetics in Medicine20132,186
3A comprehensive review of genetic association studiesGenetics in Medicine20021,518
4Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and GenomicsGenetics in Medicine20171,398
5Prader-Willi syndromeGenetics in Medicine20121,040
6DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation studyGenetics in Medicine2011809
7American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variantsGenetics in Medicine2011794
8ACMG clinical laboratory standards for next-generation sequencingGenetics in Medicine2013794
9Clinical application of whole-exome sequencing across clinical indicationsGenetics in Medicine2016780
10ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007Genetics in Medicine2008713
11The genetic landscape of Alzheimer disease: clinical implications and perspectivesGenetics in Medicine2016695
12Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel diseaseGenetics in Medicine2011651
13Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relativesGenetics in Medicine2009629
14The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention?Genetics in Medicine2007618
15The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and futureGenetics in Medicine2013611
16Beta-thalassemiaGenetics in Medicine2010609
17Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samplesGenetics in Medicine2017585
18The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working GroupGenetics in Medicine2009584
19FMR1 and the fragile X syndrome: Human genome epidemiology reviewGenetics in Medicine2001556
20Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and GenomicsGenetics in Medicine2016541
21Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteriaGenetics in Medicine2017530
22Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalitiesGenetics in Medicine2010517
23A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)Genetics in Medicine2006499
24Phenylalanine hydroxylase deficiency: diagnosis and management guidelineGenetics in Medicine2014486
25Pompe disease diagnosis and management guidelineGenetics in Medicine2006473
26Implementing genomic medicine in the clinic: the future is hereGenetics in Medicine2013472
27DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative studyGenetics in Medicine2012471
28Autism spectrum disorders—A genetics reviewGenetics in Medicine2011466
29Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a timeGenetics in Medicine2011451
30Laboratory standards and guidelines for population-based cystic fibrosis carrier screeningGenetics in Medicine2001440
31Loeys–Dietz syndrome: a primer for diagnosis and managementGenetics in Medicine2014435
32EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndromeGenetics in Medicine2009431
33Managing incidental findings and research results in genomic research involving biobanks and archived data setsGenetics in Medicine2012418
34A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessmentGenetics in Medicine2015418
35BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factorsGenetics in Medicine2019415
36Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietyGenetics in Medicine2015414
37Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panelGenetics in Medicine2004413
38Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC)Genetics in Medicine2017410
39Clinical and genetic aspects of neurofibromatosis 1Genetics in Medicine2010405
40Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic testGenetics in Medicine2018404
41Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisionsGenetics in Medicine2013402
42Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditionsGenetics in Medicine2015401
43Technical report: ethical and policy issues in genetic testing and screening of childrenGenetics in Medicine2013389
44Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literatureGenetics in Medicine2018387
45Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disordersGenetics in Medicine2019378
46Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndromeGenetics in Medicine2009376
47An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilitiesGenetics in Medicine2011371
48Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification frameworkGenetics in Medicine2018366
49Prediction of CYP2D6 phenotype from genotype across world populationsGenetics in Medicine2017365
50Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome DatabaseGenetics in Medicine2020365