8.1(top 1%)
Impact Factor
8.9(top 1%)
extended IF
150(top 2%)
H-Index
4.4K
authors
3.5K
papers
140.2K
citations
6.5K
citing journals
66.7K
citing authors

Most Cited Articles of Genetics in Medicine

TitleYearCitations
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 Pathology201512K
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing20131.8K
A comprehensive review of genetic association studies20021.3K
Recommendations 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 Genomics20171K
Prader-Willi syndrome2012751
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study2011670
ACMG clinical laboratory standards for next-generation sequencing2013640
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants2011615
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 20072008598
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease2011576
Clinical application of whole-exome sequencing across clinical indications2016532
Recommendations 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 relatives2009529
The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention?2007526
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future2013484
The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: methods of the EGAPP Working Group2009481
The genetic landscape of Alzheimer disease: clinical implications and perspectives2016477
FMR1 and the fragile X syndrome: human genome epidemiology review2001474
Beta-thalassemia2010464
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities2010417
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)2006416
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study2012407
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics2016398
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples2017386
Implementing genomic medicine in the clinic: the future is here2013385
Pompe disease diagnosis and management guideline2006376