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Genomics and Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB
Last data update: Dec 28, 2020. (Total: 37862 Documents since 2012)
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Records 1-30 (of 258 Record(s))
Query Trace: all[original query]>>Guidelines[Product Type]
Publication
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Fortuno Cristina et al. Human mutation 2020 Dec
Updated guidance on the management of children with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID).
Barben Jürg et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Nov
Guideline No. 410: Prevention, Screening, Diagnosis, and Pregnancy Management for Fetal Neural Tube Defects.
Wilson R Douglas et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2020 Nov
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Van Calcar S C et al. Molecular genetics and metabolism 2020 Oct
Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Miller Marcus J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Oct
Consensus guidelines on managing Rett syndrome across the lifespan.
Fu Cary et al. BMJ paediatrics open 2020 4(1) e000717
Novel F8 and F9 gene variants from the PedNet Hemophilia Registry classified according to ACMG/AMP guidelines.
Andersson Nadine G et al. Human mutation 2020 Sep
Cystinuria: clinical practice recommendation.
Servais Aude et al. Kidney international 2020 Sep
Hereditary diffuse gastric cancer: updated clinical practice guidelines.
Blair Vanessa R et al. The Lancet. Oncology 2020 Aug 21(8) e386-e397
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): diagnosis, follow-up and management.
Altassan Ruqaiah et al. Journal of inherited metabolic disease 2020 Jul
Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology.
Malhotra Hemant et al. JCO global oncology 2020 Jul 6991-1008
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
Baumgartner-Parzer Sabina et al. European journal of human genetics : EJHG 2020 Jul
Hereditary angioedema in children and adolescents - A consensus update on therapeutic strategies for German-speaking countries.
Wahn V et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2020 Jun
Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases.
Mellerio Jemima E et al. Orphanet journal of rare diseases 2020 Jun 15(1) 142
Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes
T Frebourg et al, EJHG et al, May 26, 2020
[Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)].
Ziegler Andreas et al. Der Nervenarzt 2020 May
Patients with Genetic Heart Disease and COVID-19: A Cardiac Society of Australia and New Zealand (CSANZ) Consensus Statement.
Gray Belinda et al. Heart, lung & circulation 2020 Apr
Recommendations for Clinical Warfarin Sensitivity Genotyping Allele Selection: A Report of the Association for Molecular Pathology and College of American Pathologists.
Pratt Victoria M et al. The Journal of molecular diagnostics : JMD 2020 May
Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines.
Martin K et al. Orphanet journal of rare diseases 2019 14(1) 133
Management of Peutz-Jeghers Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group.
Latchford Andrew et al. Journal of pediatric gastroenterology and nutrition 2019 68(3) 442-452
Management of Juvenile Polyposis Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group.
Cohen Shlomi et al. Journal of pediatric gastroenterology and nutrition 2019 68(3) 453-462
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802.
et al. Obstetrics and gynecology 2020 Apr 135(4) 987-988
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion, Number 802.
et al. Obstetrics and gynecology 2020 Apr 135(4) e167-e170
Practice Guidelines for Ocular Telehealth-Diabetic Retinopathy, Third Edition.
Horton Mark B et al. Telemedicine journal and e-health : the official journal of the American Telemedicine Association 2020 Mar
Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations.
Beazer Jennifer et al. Molecular genetics and metabolism reports 2020 Jun 23100571
[Clinical practice guidelines for phenylketonuria].
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 226-234
[Clinical practice guidelines for Noonan syndrome].
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 324-328
[Clinical practice guidelines for Duchenne muscular dystrophy].
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 258-262
[Clinical practice guidelines for brachydactyly type A1].
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 313-317
[Clinical practice guidelines for spinal muscular atrophy].
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 263-268
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