# | Title | Journal | Year | Citations |
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1 | 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 | Genetics in Medicine | 2015 | 20,455 |
2 | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing | Genetics in Medicine | 2013 | 2,186 |
3 | A comprehensive review of genetic association studies | Genetics in Medicine | 2002 | 1,518 |
4 | 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 Genomics | Genetics in Medicine | 2017 | 1,398 |
5 | Prader-Willi syndrome | Genetics in Medicine | 2012 | 1,040 |
6 | DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study | Genetics in Medicine | 2011 | 809 |
7 | American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants | Genetics in Medicine | 2011 | 794 |
8 | ACMG clinical laboratory standards for next-generation sequencing | Genetics in Medicine | 2013 | 794 |
9 | Clinical application of whole-exome sequencing across clinical indications | Genetics in Medicine | 2016 | 780 |
10 | ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007 | Genetics in Medicine | 2008 | 713 |
11 | The genetic landscape of Alzheimer disease: clinical implications and perspectives | Genetics in Medicine | 2016 | 695 |
12 | Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease | Genetics in Medicine | 2011 | 651 |
13 | 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 relatives | Genetics in Medicine | 2009 | 629 |
14 | 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? | Genetics in Medicine | 2007 | 618 |
15 | The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future | Genetics in Medicine | 2013 | 611 |
16 | Beta-thalassemia | Genetics in Medicine | 2010 | 609 |
17 | Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples | Genetics in Medicine | 2017 | 585 |
18 | The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group | Genetics in Medicine | 2009 | 584 |
19 | FMR1 and the fragile X syndrome: Human genome epidemiology review | Genetics in Medicine | 2001 | 556 |
20 | Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics | Genetics in Medicine | 2016 | 541 |
21 | Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria | Genetics in Medicine | 2017 | 530 |
22 | Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities | Genetics in Medicine | 2010 | 517 |
23 | A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) | Genetics in Medicine | 2006 | 499 |
24 | Phenylalanine hydroxylase deficiency: diagnosis and management guideline | Genetics in Medicine | 2014 | 486 |
25 | Pompe disease diagnosis and management guideline | Genetics in Medicine | 2006 | 473 |
26 | Implementing genomic medicine in the clinic: the future is here | Genetics in Medicine | 2013 | 472 |
27 | DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study | Genetics in Medicine | 2012 | 471 |
28 | Autism spectrum disorders—A genetics review | Genetics in Medicine | 2011 | 466 |
29 | Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time | Genetics in Medicine | 2011 | 451 |
30 | Laboratory standards and guidelines for population-based cystic fibrosis carrier screening | Genetics in Medicine | 2001 | 440 |
31 | Loeys–Dietz syndrome: a primer for diagnosis and management | Genetics in Medicine | 2014 | 435 |
32 | EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome | Genetics in Medicine | 2009 | 431 |
33 | Managing incidental findings and research results in genomic research involving biobanks and archived data sets | Genetics in Medicine | 2012 | 418 |
34 | A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment | Genetics in Medicine | 2015 | 418 |
35 | BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors | Genetics in Medicine | 2019 | 415 |
36 | Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society | Genetics in Medicine | 2015 | 414 |
37 | Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel | Genetics in Medicine | 2004 | 413 |
38 | Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC) | Genetics in Medicine | 2017 | 410 |
39 | Clinical and genetic aspects of neurofibromatosis 1 | Genetics in Medicine | 2010 | 405 |
40 | Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test | Genetics in Medicine | 2018 | 404 |
41 | Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions | Genetics in Medicine | 2013 | 402 |
42 | Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions | Genetics in Medicine | 2015 | 401 |
43 | Technical report: ethical and policy issues in genetic testing and screening of children | Genetics in Medicine | 2013 | 389 |
44 | Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature | Genetics in Medicine | 2018 | 387 |
45 | Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders | Genetics in Medicine | 2019 | 378 |
46 | Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome | Genetics in Medicine | 2009 | 376 |
47 | An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities | Genetics in Medicine | 2011 | 371 |
48 | Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework | Genetics in Medicine | 2018 | 366 |
49 | Prediction of CYP2D6 phenotype from genotype across world populations | Genetics in Medicine | 2017 | 365 |
50 | Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database | Genetics in Medicine | 2020 | 365 |