Genomics & Health Impact Scan Database|Search|PHGKB

Genomics & Health Impact Scan Database|Search|PHGKB

Genomics and Precision Health Database

Publication
HER2-targeted treatment for older patients with breast cancer: An expert position paper from the International Society of Geriatric Oncology. Brain Etienne et al. Journal of geriatric oncology 2019 Jun Similar articles in PubMed
Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes. Beygo Jasmin et al. European journal of human genetics : EJHG 2019 Jun Similar articles in PubMed
Pathophysiology, diagnosis and management of peripartum cardiomyopathy: a position statement from the Heart Failure Association of the European Society of Cardiology Study Group on peripartum cardiomyopathy. Bauersachs Johann et al. European journal of heart failure 2019 Jun Similar articles in PubMed
European Association of Nuclear Medicine Practice Guideline/Society of Nuclear Medicine and Molecular Imaging Procedure Standard 2019 for radionuclide imaging of phaeochromocytoma and paraganglioma. Taïeb David et al. European journal of nuclear medicine and molecular imaging 2019 Jun Similar articles in PubMed
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death. Fellmann Florence et al. European journal of human genetics : EJHG 2019 Jun Similar articles in PubMed
ADDENDUM: Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Goldman Jill S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jun Similar articles in PubMed
Chemotherapy and targeted therapy for women with human epidermal growth factor receptor 2-negative (or unknown) advanced breast cancer: American Society of Clinical Oncology Clinical Practice Guideline. Partridge Ann H et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2014 Oct 32(29) 3307-29 Similar articles in PubMed
The Japanese Lung Cancer Society Guideline for non-small cell lung cancer, stage IV. Akamatsu Hiroaki et al. International journal of clinical oncology 2019 Jul 24(7) 731-770 Similar articles in PubMed
Selection of Optimal Adjuvant Chemotherapy and Targeted Therapy for Early Breast Cancer: ASCO Clinical Practice Guideline Focused Update. Denduluri Neelima et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Aug 36(23) 2433-2443 Similar articles in PubMed
HER2 Testing and Clinical Decision Making in Gastroesophageal Adenocarcinoma: Guideline From the College of American Pathologists, American Society for Clinical Pathology, and the American Society of Clinical Oncology. Bartley Angela N et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Feb 35(4) 446-464 Similar articles in PubMed
Chinese Society of Clinical Oncology (CSCO) diagnosis and treatment guidelines for colorectal cancer 2018 (English version). Diagnosis And Treatment Guidelines For Colorectal Cancer Working Group Chinese Society Of Clinical Oncology Csco et al. Chinese journal of cancer research = Chung-kuo yen cheng yen chiu 2019 Feb 31(1) 117-134 Similar articles in PubMed
Guidelines for biomarker testing in advanced non-small-cell lung cancer. A national consensus of the Spanish Society of Medical Oncology (SEOM) and the Spanish Society of Pathology (SEAP). Garrido Pilar et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2012 May 14(5) 338-49 Similar articles in PubMed
Molecular testing for selection of patients with lung cancer for epidermal growth factor receptor and anaplastic lymphoma kinase tyrosine kinase inhibitors: American Society of Clinical Oncology endorsement of the College of American Pathologists/International Association for the study of lung cancer/association for molecular pathology guideline. Leighl Natasha B et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2014 Nov 32(32) 3673-9 Similar articles in PubMed
American Society of Clinical Oncology/College of American Pathologists guideline recommendations for immunohistochemical testing of estrogen and progesterone receptors in breast cancer (unabridged version). Hammond M Elizabeth H et al. Archives of pathology & laboratory medicine 2010 Jul 134(7) e48-72 Similar articles in PubMed
HER2 Testing and Clinical Decision Making in Gastroesophageal Adenocarcinoma: Guideline From the College of American Pathologists, American Society for Clinical Pathology, and American Society of Clinical Oncology. Bartley Angela N et al. Archives of pathology & laboratory medicine 2016 Dec 140(12) 1345-1363 Similar articles in PubMed
Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology. Lindeman Neal I et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2018 13(3) 323-358 Similar articles in PubMed
Updated guidelines for biomarker testing in colorectal carcinoma: a national consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology. García-Alfonso P et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2015 Apr 17(4) 264-73 Similar articles in PubMed
Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-society Task Force on Colorectal Cancer. Durno Carol et al. Journal of pediatric gastroenterology and nutrition 2017 64(5) 836-843 Similar articles in PubMed
Treatment of stage IV non-small cell lung cancer: Diagnosis and management of lung cancer, 3rd ed: American College of Chest Physicians evidence-based clinical practice guidelines. Socinski Mark A et al. Chest 2013 May 143(5 Suppl) e341S-e368S Similar articles in PubMed
Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology. Lindeman Neal I et al. The Journal of molecular diagnostics : JMD 2013 Jul 15(4) 415-53 Similar articles in PubMed
Metastatic Pancreatic Cancer: ASCO Clinical Practice Guideline Update. Sohal Davendra P S et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Aug 36(24) 2545-2556 Similar articles in PubMed
American Society of Clinical Oncology/College of American Pathologists guideline recommendations for human epidermal growth factor receptor 2 testing in breast cancer. Wolff Antonio C et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2007 Jan 25(1) 118-45 Similar articles in PubMed
Initial Diagnostic Work-Up of Acute Leukemia: ASCO Clinical Practice Guideline Endorsement of the College of American Pathologists and American Society of Hematology Guideline. de Haas Valérie et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2019 Jan 37(3) 239-253 Similar articles in PubMed
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death F Fellmann et al, EJHG, June 24, 2019
Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium. Javaid Muhammad Kassim et al. Orphanet journal of rare diseases 2019 Jun 14(1) 139 Similar articles in PubMed
Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics. De Backer Julie et al. European journal of preventive cardiology 2019 Jun 2047487319854552 Similar articles in PubMed
Updated Expert Consensus Statement on Platelet Function and Genetic Testing for Guiding P2Y 12 Receptor Inhibitor Treatment in Percutaneous Coronary Intervention. Sibbing Dirk et al. JACC. Cardiovascular interventions 2019 Jun Similar articles in PubMed
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. Akyol Mehmet Umut et al. Orphanet journal of rare diseases 2019 Jun 14(1) 137 Similar articles in PubMed
Role of Patient and Disease Factors in Adjuvant Systemic Therapy Decision Making for Early-Stage, Operable Breast Cancer: Update of the ASCO Endorsement of the Cancer Care Ontario Guideline. Henry N Lynn et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2019 Jun JCO1900948 Similar articles in PubMed
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Srivastava Siddharth et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jun Similar articles in PubMed
Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives. Gori Stefania et al. Critical reviews in oncology/hematology 2019 May 14067-72 Similar articles in PubMed
Highlights from the nutrition guidelines for cystic fibrosis in Australia and New Zealand. van der Haak Natalie et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2019 Jun Similar articles in PubMed
Use of Biomarkers to Guide Decisions on Adjuvant Systemic Therapy for Women With Early-Stage Invasive Breast Cancer: ASCO Clinical Practice Guideline Update-Integration of Results From TAILORx. Andre Fabrice et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2019 May JCO1900945 Similar articles in PubMed
2018 Cholesterol Clinical Practice Guidelines: Synopsis of the 2018 American Heart Association/American College of Cardiology/Multisociety Cholesterol Guideline. Grundy Scott M et al. Annals of internal medicine 2019 May Similar articles in PubMed
NCCN Guidelines Updates: Management of Prostate Cancer. Mohler James L et al. Journal of the National Comprehensive Cancer Network : JNCCN 2019 May 17(5.5) 583-586 Similar articles in PubMed
2019 HRS Expert Consensus Statement on Evaluation, Risk Stratification, and Management of Arrhythmogenic Cardiomyopathy. Towbin Jeffrey A et al. Heart rhythm 2019 May Similar articles in PubMed
A consensus statement on birth defects surveillance, prevention, and care in Latin America and the Caribbean. Zarante Ignacio et al. Revista panamericana de salud publica = Pan American journal of public health 2019 43e2 Similar articles in PubMed
Fifteen-minute consultation: Efficient investigation of the child with early developmental impairment in the era of genomic sequencing. Coysh Thomas et al. Archives of disease in childhood. Education and practice edition 2019 May Similar articles in PubMed
Recommendations for Clinical CYP2C9 Genotyping Allele Selection: A Joint Recommendation of the Association for Molecular Pathology and College of American Pathologists. Pratt Victoria M et al. The Journal of molecular diagnostics : JMD 2019 May Similar articles in PubMed
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Haffner Dieter et al. Nature reviews. Nephrology 2019 May Similar articles in PubMed
Germline-Focused Analysis of Tumour-Only Sequencing: Recommendations from the ESMO Precision Medicine Working Group. Mandelker D et al. Annals of oncology : official journal of the European Society for Medical Oncology 2019 May Similar articles in PubMed
ESMO recommendations on microsatellite instability testing for immunotherapy in cancer, and its relationship with PD-1/PD-L1 expression and tumour mutational burden: a systematic review-based approach. Luchini C et al. Annals of oncology : official journal of the European Society for Medical Oncology 2019 May Similar articles in PubMed
ACOG Committee Opinion No. 778: Newborn Screening and the Role of the Obstetrician-Gynecologist. et al. Obstetrics and gynecology 2019 May 133(5) e357-e361 Similar articles in PubMed
ACOG Committee Opinion No. 778 Summary: Newborn Screening and the Role of the Obstetrician-Gynecologist. et al. Obstetrics and gynecology 2019 May 133(5) 1073-1074 Similar articles in PubMed
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2B6 and Efavirenz-containing Antiretroviral Therapy. Desta Zeruesenay et al. Clinical pharmacology and therapeutics 2019 Apr Similar articles in PubMed
The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG). , et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 4 0. Similar articles in PubMed
Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG). Deignan Joshua L, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 4 0. Similar articles in PubMed
Endometrial Carcinoma Diagnosis: Use of FIGO Grading and Genomic Subcategories in Clinical Practice: Recommendations of the International Society of Gynecological Pathologists. Soslow Robert A et al. International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists 2019 Jan 38 Suppl 1S64-S74 Similar articles in PubMed
Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India. Sachdeva Anupam et al. Indian pediatrics 2019 Mar 56(3) 221-228 Similar articles in PubMed
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results. Bombard Yvonne et al. American journal of human genetics 2019 Apr 104(4) 578-595 Similar articles in PubMed
ESC e-Cardiology Working Group Position Paper: Overcoming challenges in digital health implementation in cardiovascular medicine. Frederix Ines et al. European journal of preventive cardiology 2019 Mar 2047487319832394 Similar articles in PubMed
NCCN Prostate Cancer Update Emphasizes Germline Testing, by Mary Caffrey, AJMC, March 22, 2019
American Society of Breast Surgeons Recommends Genetic Testing for Newly Diagnosed Patients With Breast Cancer, by Caroline Helwick, The ASCO Post, March 25, 2019
Advisory Committee on Immunization Practices recommended immunization schedule for adults aged 19 years or older - United States, 2019. Kim David K et al. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2019 Apr 19(4) 1232-1235 Similar articles in PubMed
Advisory Committee on Immunization Practices recommended immunization schedule for children and adolescents aged 18 years or younger - United States, 2019. Robinson Candice L et al. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2019 Apr 19(4) 1229-1231 Similar articles in PubMed
Biomarkers in Non-Small Cell Lung Cancers: Indian Consensus Guidelines for Molecular Testing. Prabhash Kumar et al. Advances in therapy 2019 Mar Similar articles in PubMed
Recommendations for the clinical interpretation and reporting of copy number gains using gene panel NGS analysis in routine diagnostics. Eijkelenboom Astrid et al. Virchows Archiv : an international journal of pathology 2019 Mar Similar articles in PubMed
Australasian Gastrointestinal Pathology Society (AGPS) consensus guidelines for universal defective mismatch repair testing in colorectal carcinoma. Yozu Masato et al. Pathology 2019 Mar Similar articles in PubMed
Molecular profiling and targeted therapy in pediatric gliomas: review and consensus recommendations. Miklja Zachary et al. Neuro-oncology 2019 Feb Similar articles in PubMed
ACOG Committee Opinion No. 768: Genetic Syndromes and Gynecologic Implications in Adolescents. et al. Obstetrics and gynecology 2019 Mar 133(3) e226-e234 Similar articles in PubMed
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 Genotype and Atomoxetine Therapy. Brown Jacob T et al. Clinical pharmacology and therapeutics 2019 Feb Similar articles in PubMed
Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations. Conceição Isabel et al. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2019 Feb 1-7 Similar articles in PubMed
Draft Recommendation Statement and Draft Evidence Review: Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. Altassan Ruqaiah et al. Journal of inherited metabolic disease 2019 Jan 42(1) 5-28 Similar articles in PubMed
Wilson's Disease: Clinical Practice Guidelines of the Indian National Association for Study of the Liver, the Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition, and the Movement Disorders Society of India. Nagral Aabha et al. Journal of clinical and experimental hepatology 9(1) 74-98 Similar articles in PubMed
Consensus guidelines for genetic testing for hereditary breast and ovarian cancer American Society for Breast Surgeons, February 14, 2019
Draft Recommendation Statement BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing USPSTF, February 2019
Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6 genotype and use of ondansetron and tropisetron. Bell G C et al. Clinical pharmacology and therapeutics 2017 102(2) 213-218 Similar articles in PubMed
European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms. Rack K A et al. Leukemia 2019 Jan Similar articles in PubMed
Spanish multidisciplinary clinical practice guidelines for Anderson-Fabry Disease in Adults. I. Method and recommendations. Calderón Sandubete E J et al. Revista clinica espanola 2019 Jan Similar articles in PubMed
Tumor mutational burden (TMB) standardization initiatives: Recommendations for consistent TMB assessment in clinical samples to guide immunotherapy treatment decisions. Stenzinger Albrecht et al. Genes, chromosomes & cancer 2019 Jan Similar articles in PubMed
Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors' Organisation Good Practice Paper. Gomez Keith et al. Haemophilia : the official journal of the World Federation of Hemophilia 2019 Jan 25(1) 116-126 Similar articles in PubMed
Public Comment on Draft Recommendation Statement and Draft Evidence Review: Medication Use to Reduce Risk of Breast Cancer U.S.Preventive Services Task Force, January 2019
Prohibiting Genetic Discrimination to Promote Science, Health, and Fairness. et al. American journal of human genetics 2019 Jan 104(1) 6-7 Similar articles in PubMed
Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). David Karen L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec Similar articles in PubMed
Management of Familial Adenomatous Polyposis in Children and Adolescents: Position Paper from the ESPGHAN Polyposis Working Group. Hyer Warren et al. Journal of pediatric gastroenterology and nutrition 2018 Dec Similar articles in PubMed
Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia: Update 2018. Brunham Liam R et al. The Canadian journal of cardiology 2018 Dec 34(12) 1553-1563 Similar articles in PubMed
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing. Krahn Martin et al. European journal of human genetics : EJHG 2018 Dec Similar articles in PubMed
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Longo Nicola, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 12 0. Similar articles in PubMed
Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes. Gonsalves Stephen G et al. Clinical pharmacology and therapeutics 2018 Nov Similar articles in PubMed
European Breast Cancer Council manifesto 2018: Genetic risk prediction testing in breast cancer. Rutgers Emiel et al. European journal of cancer (Oxford, England : 1990) 2018 Nov 10645-53 Similar articles in PubMed
No. 366-Gynaecologic Management of Hereditary Breast and Ovarian Cancer. Jacobson Michelle et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2018 Nov 40(11) 1497-1510 Similar articles in PubMed
Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations. Singer Christian F et al. European journal of cancer (Oxford, England : 1990) 2018 Nov 10654-60 Similar articles in PubMed
Portuguese consensus document for the management of alpha-1-antitrypsin deficiency. Lopes A P et al. Pulmonology 2018 Dec 24 Suppl 11-21 Similar articles in PubMed
Evaluating Susceptibility to Pancreatic Cancer: ASCO Provisional Clinical Opinion. Stoffel Elena M et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Nov JCO1801489 Similar articles in PubMed
Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia. Newson Ainsley J et al. Twin research and human genetics : the official journal of the International Society for Twin Studies 2018 Nov 1-5 Similar articles in PubMed
Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for thiopurine dosing based on TPMT and NUDT15 genotypes: 2018 update. Relling Mary V et al. Clinical pharmacology and therapeutics 2018 Nov Similar articles in PubMed
South African dyslipidaemia guideline consensus statement: 2018 update A joint statement from the South African Heart Association (SA Heart) and the Lipid and Atherosclerosis Society of Southern Africa (LASSA). Klug E et al. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2018 Oct 108(11b) 973-1000 Similar articles in PubMed
Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada. Jain Puneet et al. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2018 Nov 1-7 Similar articles in PubMed
Ehlers-Danlos syndromes: state of the art on clinical practice guidelines. Sulli Alberto et al. RMD open 2018 4(Suppl 1) e000790 Similar articles in PubMed
Systemic sclerosis: state of the art on clinical practice guidelines. Smith Vanessa et al. RMD open 2018 4(Suppl 1) e000782 Similar articles in PubMed
The Japanese Society of Pathology Guidelines on the handling of pathological tissue samples for genomic research: Standard operating procedures based on empirical analyses. Kanai Yae et al. Pathology international 2018 Feb 68(2) 63-90 Similar articles in PubMed
Revised Australian national guidelines for colorectal cancer screening: family history. Jenkins Mark A et al. The Medical journal of Australia 2018 Oct Similar articles in PubMed
Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Nummer 032/034-OL, April 2018) - Part 1 with Recommendations on the Epidemiology, Screening, Diagnosis and Hereditary Factors of Endometrial Cancer. Emons Günter et al. Geburtshilfe und Frauenheilkunde 2018 Oct 78(10) 949-971 Similar articles in PubMed
Updated Canadian Expert Consensus on Assessing Risk of Disease Progression and Pharmacological Management of Autosomal Dominant Polycystic Kidney Disease. Soroka Steven et al. Canadian journal of kidney health and disease 2018 52054358118801589 Similar articles in PubMed
Screening and surveillance in hereditary gastrointestinal cancers: Recommendations from the European Society of Digestive Oncology (ESDO) expert discussion at the 20th European Society for Medical Oncology (ESMO)/World Congress on Gastrointestinal Cancer, Barcelona, June 2018. Vangala Deepak B et al. European journal of cancer (Oxford, England : 1990) 2018 Oct 10491-103 Similar articles in PubMed
Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. Carrieri Daniele et al. European journal of human genetics : EJHG 2018 Oct Similar articles in PubMed
Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Zhang Shulin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct Similar articles in PubMed
Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation. Kemper Alex R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 19(1) 121-126 Similar articles in PubMed
Updated recommendation for the benign stand-alone ACMG/AMP criterion. Ghosh Rajarshi et al. Human mutation 2018 Nov 39(11) 1525-1530 Similar articles in PubMed