January is Birth Defects Prevention Month

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Recommendations for Screening and Management of Late Effects in Patients with Severe Combined Immunodeficiency after Allogenic Hematopoietic Cell Transplantation: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT. Heimall Jennifer et al. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2017 Aug 23(8) 1229-1240 Similar articles in PubMed
Considerations in healthcare reform for patients and families with genetic diseases: a statement of the American College of Medical Genetics and Genomics. et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Feb Similar articles in PubMed
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Brioude Frédéric et al. Nature reviews. Endocrinology 2018 Jan Similar articles in PubMed
Wilson's Disease in Children: A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. Socha Piotr et al. Journal of pediatric gastroenterology and nutrition 2018 Feb 66(2) 334-344 Similar articles in PubMed
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG). Pasquali Marzia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Oct Similar articles in PubMed
Screening Children at Risk for Retinoblastoma: Consensus Report from the American Association of Ophthalmic Oncologists and Pathologists. Skalet Alison H et al. Ophthalmology 2017 Oct Similar articles in PubMed
Recommendations for collaborative paediatric research including biobanking in Europe: a Single Hub and Access point for paediatric Rheumatology in Europe (SHARE) initiative. Kuemmerle-Deschner Jasmin B et al. Annals of the rheumatic diseases 2017 Oct Similar articles in PubMed
International Consensus Statement on the Clinical and Therapeutic Management of Leber's Hereditary Optic Neuropathy. Carelli Valerio et al. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2017 Oct Similar articles in PubMed
Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives. Araujo Alexandra P Q C et al. Arquivos de neuro-psiquiatria 2017 Aug 75(8) 104-113 Similar articles in PubMed
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. Chinsky Jeffrey M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug Similar articles in PubMed
Brazilian guidelines for the diagnosis and treatment of cystic fibrosis. Athanazio Rodrigo Abensur et al. Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 43(3) 219-245 Similar articles in PubMed
Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin. Manna Raffaele et al. Internal and emergency medicine 2017 Jul Similar articles in PubMed
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. Strovel Erin T et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul Similar articles in PubMed
Expanded Newborn Screening: Information and Resources for the Family Physician. Weismiller David Glenn et al. American family physician 2017 Jun 95(11) 703-709 Similar articles in PubMed
Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk. Villani Anita et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(12) e83-e90 Similar articles in PubMed
A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era. Wortmann Saskia B et al. Neuropediatrics 2017 Jun Similar articles in PubMed
Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders. Walsh Michael F et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(11) e23-e31 Similar articles in PubMed
Investigation of the utility of various diagnostic guidelines for Wilson's disease. Nakai Masato et al. Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterology 2017 114(5) 839-845 Similar articles in PubMed
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. McGovern Margaret M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Apr Similar articles in PubMed
Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel. Wirrell Elaine C et al. Pediatric neurology 2017 Mar 6818-34.e3 Similar articles in PubMed
Recommendations for the use of microarrays in prenatal diagnosis. Suela Javier et al. Medicina clinica 2017 Feb Similar articles in PubMed
Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation. Farrell Philip M et al. The Journal of pediatrics 2017 Feb 181SS4-S15.e1 Similar articles in PubMed
Diagnosis of Cystic Fibrosis in Screened Populations. Farrell Philip M et al. The Journal of pediatrics 2017 Feb 181SS33-S44.e2 Similar articles in PubMed
Folic Acid Supplementation for the Prevention of Neural Tube Defects: US Preventive Services Task Force Recommendation Statement. et al. JAMA 2017 Jan 317(2) 183-189 Similar articles in PubMed
Guidelines on homocystinurias and methylation defects: a harmonized approach to diagnosis and management. Morava Eva et al. Journal of inherited metabolic disease 2016 Nov Similar articles in PubMed
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. Boy Nikolas et al. Journal of inherited metabolic disease 2016 Nov Similar articles in PubMed
Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease. Llerena Junior Juan Clinton et al. Arquivos de neuro-psiquiatria 2016 Feb 74(2) 166-76 Similar articles in PubMed
Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project. Hart Sarah J et al. Journal of genetic counseling 2016 Feb 25(1) 6-17 Similar articles in PubMed
Clinical utility gene card for: Alport syndrome - update 2014. Hertz Jens Michael et al. European journal of human genetics : EJHG 2015 Sep 23(9) Similar articles in PubMed
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. Eggermann Katja et al. European journal of human genetics : EJHG 2016 May Similar articles in PubMed
Practice Bulletin No. 163 Summary: Screening for Fetal Aneuploidy. et al. Obstetrics and gynecology 2016 May 127(5) 979-81 Similar articles in PubMed
Practice Bulletin No. 163: Screening for Fetal Aneuploidy. et al. Obstetrics and gynecology 2016 Mar Similar articles in PubMed
Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 3: Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy and Other Cardiomyopathies, and Myocarditis: A Scientific Statement From the American Heart Association and American College of Cardiology. Maron Barry J et al. Circulation 2015 Dec 132(22) e273-80 Similar articles in PubMed
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management, and follow-up of the syndrome. Mussa Alessandro et al. European journal of medical genetics 2015 Nov Similar articles in PubMed
Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 7: Aortic Diseases, Including Marfan Syndrome: A Scientific Statement From the American Heart Association and American College of Cardiology. Braverman Alan C et al. Journal of the American College of Cardiology 2015 Oct Similar articles in PubMed
Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Preamble, Principles, and General Considerations: A Scientific Statement From the American Heart Association and American College of Cardiology. Maron Barry J et al. Journal of the American College of Cardiology 2015 Oct Similar articles in PubMed
Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 2: Preparticipation Screening for Cardiovascular Disease in Competitive Athletes: A Scientific Statement From the American Heart Association and American College of Cardiology. Maron Barry J et al. Circulation 2015 Nov Similar articles in PubMed
Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 14: Sickle Cell Trait: A Scientific Statement From the American Heart Association and American College of Cardiology. Maron Barry J et al. Circulation 2015 Nov Similar articles in PubMed
Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 10: The Cardiac Channelopathies: A Scientific Statement From the American Heart Association and American College of Cardiology. Ackerman Michael J et al. Circulation 2015 Nov Similar articles in PubMed
Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 9: Arrhythmias and Conduction Defects: A Scientific Statement From the American Heart Association and American College of Cardiology. Zipes Douglas P et al. Journal of the American College of Cardiology 2015 Oct Similar articles in PubMed
Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 4: Congenital Heart Disease: A Scientific Statement From the American Heart Association and American College of Cardiology. Van Hare George F et al. Journal of the American College of Cardiology 2015 Oct Similar articles in PubMed
Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 3: Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy and Other Cardiomyopathies, and Myocarditis: A Scientific Statement From the American Heart Association and American College of Cardiology. Maron Barry J et al. Journal of the American College of Cardiology 2015 Oct Similar articles in PubMed
Prenatal Diagnosis Procedures and Techniques to Obtain a Diagnostic Fetal Specimen or Tissue: Maternal and Fetal Risks and Benefits. Wilson R Douglas et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obste´trique et gyne´cologie du Canada : JOGC 2015 Jul 37(7) 656-70 Similar articles in PubMed
2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC)Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). Authors/Task Force Members et al. European heart journal 2015 Aug Similar articles in PubMed
Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Shapiro Adam J et al. Pediatric pulmonology 2015 Sep Similar articles in PubMed
Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Benn Peter et al. Prenat. Diagn. 2015 May 13. Similar articles in PubMed
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Dondorp Wybo et al. Eur. J. Hum. Genet. 2015 Mar 18. Similar articles in PubMed
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders. Similar articles in PubMed
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adultThe Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). Similar articles in PubMed
EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Similar articles in PubMed
ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. Similar articles in PubMed
Clinical utility gene card for: Alagille Syndrome (ALGS). Similar articles in PubMed
Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology. Similar articles in PubMed