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Molecular profiling and targeted therapy in pediatric gliomas: review and consensus recommendations. Miklja Zachary et al. Neuro-oncology 2019 Feb Similar articles in PubMed
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
Consensus guidelines for genetic testing for hereditary breast and ovarian cancer American Society for Breast Surgeons, February 14, 2019
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
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
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
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria N Longo et al, Genetics in Medicine, December 14, 2018
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
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
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
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
Brazilian Guidelines for Hereditary Angioedema Management - 2017 Update Part 1: Definition, Classification and Diagnosis. Giavina-Bianchi Pedro et al. Clinics (Sao Paulo, Brazil) 2018 73e310 Similar articles in PubMed
Recommendations on prevention and screening for colorectal cancer in Hong Kong. Lam T H et al. Hong Kong medical journal = Xianggang yi xue za zhi 2018 Oct 24(5) 521-526 Similar articles in PubMed
[The French Genetic and Cancer Consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition]. Moretta Jessica et al. Bulletin du cancer 2018 Sep Similar articles in PubMed
The UK guidelines for management and surveillance of Tuberous Sclerosis Complex. Amin S et al. QJM : monthly journal of the Association of Physicians 2018 Sep Similar articles in PubMed
Management of Prader-Willi Syndrome (PWS) in adults - what an endocrinologist needs to know. Recommendations of the Polish Society of Endocrinology and the Polish Society of Paediatric Endocrinology and Diabetology. Góralska Magdalena et al. Endokrynologia Polska 2018 69(4) Similar articles in PubMed
Chronic Myeloid Leukemia, Version 1.2019, NCCN Clinical Practice Guidelines in Oncology. Radich Jerald P et al. Journal of the National Comprehensive Cancer Network : JNCCN 2018 Sep 16(9) 1108-1135 Similar articles in PubMed
Clinical Significance of DNA Variants in Chronic Myeloid Neoplasms (CMNs): A Report of the Association for Molecular Pathology. McClure Rebecca F et al. The Journal of molecular diagnostics : JMD 2018 Aug Similar articles in PubMed
Consensus Statement of the Indian Academy of Pediatrics in Diagnosis and Management of Hemophilia. Sachdeva Anupam et al. Indian pediatrics 2018 Jul 55(7) 582-590 Similar articles in PubMed
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Kline Antonie D et al. Nature reviews. Genetics 2018 Jul Similar articles in PubMed
Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Stewart Douglas R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul 20(7) 671-682 Similar articles in PubMed
Expert consensus guidelines for the genetic diagnosis of Alport syndrome. Savige Judy et al. Pediatric nephrology (Berlin, Germany) 2018 Jul Similar articles in PubMed
The biology of cutaneous neurofibromas: Consensus recommendations for setting research priorities. Brosseau Jean-Philippe et al. Neurology 2018 Jul 91(2 Supplement 1) S14-S20 Similar articles in PubMed
Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Hershberger Ray E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun Similar articles in PubMed
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline. Muiño-Mosquera Laura et al. Circulation. Genomic and precision medicine 2018 Jun 11(6) e002039 Similar articles in PubMed
Molecular testing in holoprosencephaly. Kruszka Paul et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 May Similar articles in PubMed
[Beckwith-Wiedemann Syndrome (BWS) Current Status of Diagnosis and Clinical Management: Summary of the First International Consensus Statement]. Elbracht Miriam et al. Klinische Padiatrie 2018 Apr Similar articles in PubMed
Consensus clinical management guidelines for Niemann-Pick disease type C. Geberhiwot Tarekegn et al. Orphanet journal of rare diseases 2018 Apr 13(1) 50 Similar articles in PubMed
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. Glascock Jacqueline et al. Journal of neuromuscular diseases 2018 Mar Similar articles in PubMed
Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions. Porter Christopher C et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(11) e14-e22 Similar articles in PubMed
Fabry disease revisited: Management and treatment recommendations for adult patients. Ortiz Alberto et al. Molecular genetics and metabolism 2018 Feb Similar articles in PubMed
Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics. et al. Indian pediatrics 2018 Feb 55(2) 143-153 Similar articles in PubMed
Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy. Nascimento Osorio A et al. Neurologia (Barcelona, Spain) 2018 Mar Similar articles in PubMed
ECFS best practice guidelines: the 2018 revision. Castellani Carlo et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 Mar Similar articles in PubMed
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
Screening for Ovarian Cancer: US Preventive Services Task Force Recommendation Statement. , et al. JAMA 2018 0 0. (6) 588-594 Similar articles in PubMed
Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update. Phillips Elizabeth J et al. Clinical pharmacology and therapeutics 2018 Feb Similar articles in PubMed
Molecular Testing Guideline for the Selection of Patients With Lung Cancer for Treatment With Targeted 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 Clinical Practice Guideline Update. Kalemkerian Gregory P et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Feb JCO2017767293 Similar articles in PubMed
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. Kwon Jennifer M et al. Orphanet journal of rare diseases 2018 Feb 13(1) 30 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
Breast Cancer Screening in Women at Higher-Than-Average Risk: Recommendations From the ACR. Monticciolo Debra L et al. Journal of the American College of Radiology : JACR 2018 Jan Similar articles in PubMed
The international WAO/EAACI guideline for the management of hereditary angioedema - the 2017 revision and update. Maurer Marcus et al. Allergy 2018 Jan 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
Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017. Giri Veda N et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Dec JCO2017741173 Similar articles in PubMed
Improving Emergency Department-Based Care of Sickle Cell Pain. Glassberg Jeffrey A et al. Hematology. American Society of Hematology. Education Program 2017 Dec 2017(1) 412-417 Similar articles in PubMed
European Respiratory Society statement: diagnosis and treatment of pulmonary disease in ?1-antitrypsin deficiency. Miravitlles Marc et al. The European respiratory journal 2017 Nov 50(5) Similar articles in PubMed
Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening. Sermet-Gaudelus I et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2017 Nov 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
Genetic/Familial High Risk Assessment: Breast and Ovarian Cancer [PDF 1.69 MB] NCCN Guidelines, October 2017
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
ACOG's Updated Breast and Ovarian Cancer Syndrome Guidance: What to Know, by Andrew M. Kaunitz, MD, Medscape, September 26, 2017
No. 262-Prenatal Screening for and Diagnosis of Aneuploidy in Twin Pregnancies. Audibert François et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2017 Sep 39(9) e347-e361 Similar articles in PubMed
No. 261-Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies. Chitayat David et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2017 Sep 39(9) e380-e394 Similar articles in PubMed
Vision Screening in Children Aged 6 Months to 5 Years: US Preventive Services Task Force Recommendation Statement. , et al. JAMA 2017 9 0. (9) 836-844 Similar articles in PubMed
Practice Bulletin No. 182 Summary: Hereditary Breast and Ovarian Cancer Syndrome. et al. Obstetrics and gynecology 2017 Sep 130(3) 657-659 Similar articles in PubMed
Committee Opinion No. 716 Summary: The Role of the Obstetrician-Gynecologist in the Early Detection of Epithelial Ovarian Cancer in Women at Average Risk. et al. Obstetrics and gynecology 2017 Sep 130(3) 664-665 Similar articles in PubMed
Practice Bulletin No 182: Hereditary Breast and Ovarian Cancer Syndrome. et al. Obstetrics and gynecology 2017 130(3) e110-e126 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
Treatment of multiple myeloma with high-risk cytogenetics: a consensus of the International Myeloma Working Group. Sonneveld Pieter et al. Blood 2016 Jun 127(24) 2955-62 Similar articles in PubMed
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. Kratz Christian P et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 23(11) e38-e45 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
Draft Recommendation Statement: Ovarian Cancer Screening US Preventive Services Task Force, July 2017
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
Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. Kalish Jennifer M et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jul 23(13) e115-e122 Similar articles in PubMed
Position Statement on the Diagnosis and Management of Familial Dilated Cardiomyopathy. Fatkin Diane et al. Heart, lung & circulation 2017 Jun 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
PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood. Schultz Kris Ann P et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(12) e76-e82 Similar articles in PubMed
Von Hippel-Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood. Rednam Surya P et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(12) e68-e75 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
AGO Austria recommendation on screening and diagnosis of Lynch syndrome (LS). Zeimet Alain G et al. Archives of gynecology and obstetrics 2017 May 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
Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice. Leroy Bernard et al. Cancer research 2017 Mar Similar articles in PubMed
Committee Opinion No. 691 Summary: Carrier Screening for Genetic Conditions. et al. Obstetrics and gynecology 2017 Mar 129(3) 597-599 Similar articles in PubMed
Initial Diagnostic Workup of Acute Leukemia: Guideline From the College of American Pathologists and the American Society of Hematology. Arber Daniel A et al. Archives of pathology & laboratory medicine 2017 Feb 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. American journal of clinical pathology 2016 Dec 146(6) 647-669 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
Consensus on management of advanced medullary thyroid carcinoma on behalf of the Working Group of Thyroid Cancer of the Spanish Society of Endocrinology (SEEN) and the Spanish Task Force Group for Orphan and Infrequent Tumors (GETHI). Grande E et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2016 Aug 18(8) 769-75 Similar articles in PubMed
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017. Daly Mary B et al. Journal of the National Comprehensive Cancer Network : JNCCN 2017 Jan 15(1) 9-20 Similar articles in PubMed
Clinical Pharmacogenetic Testing and Application: Laboratory Medicine Clinical Practice Guidelines. Kim Sollip et al. Annals of laboratory medicine 2017 Mar 37(2) 180-193 Similar articles in PubMed
Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Döhner Hartmut et al. Blood 2016 Nov Similar articles in PubMed
Diagnosis and treatment of chronic lymphocytic leukemia: recommendations from the Brazilian Group of Chronic Lymphocytic Leukemia. Rodrigues Celso Arrais et al. Revista brasileira de hematologia e hemoterapia 38(4) 346-357 Similar articles in PubMed
Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas. et al. Nature reviews. Endocrinology 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
International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Hearing loss in the pediatric patient. Liming Bryan J et al. International journal of pediatric otorhinolaryngology 2016 Nov 90251-258 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
Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening. Paluch-Shimon S et al. Annals of oncology : official journal of the European Society for Medical Oncology / ESMO 2016 Sep 27(suppl 5) v103-v110 Similar articles in PubMed
Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing. Wilson R Douglas et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obste´trique et gyne´cologie du Canada : JOGC 2016 Aug 38(8) 742-762.e3 Similar articles in PubMed
Neoadjuvant Chemotherapy for Newly Diagnosed, Advanced Ovarian Cancer: Society of Gynecologic Oncology and American Society of Clinical Oncology Clinical Practice Guideline. Wright Alexi A et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Aug Similar articles in PubMed
EULAR recommendations for the management of familial Mediterranean fever. Ozen Seza et al. Annals of the rheumatic diseases 2016 Apr 75(4) 644-51 Similar articles in PubMed
Guidelines for the management and treatment of periodic fever syndromes familial Mediterranean fever. Terreri Maria Teresa R A et al. Revista brasileira de reumatologia 56(1) 37-43 Similar articles in PubMed
Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients. Pinto Carmine et al. Future oncology (London, England) 2016 May Similar articles in PubMed
Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach. Singh Rani H et al. Molecular genetics and metabolism 2016 Apr Similar articles in PubMed
Clinical utility gene card for: Trimethylaminuria - update 2014. Shephard Elizabeth A et al. European journal of human genetics : EJHG 2015 Sep 23(9) Similar articles in PubMed
Presymptomatic ALS genetic counseling and testing: Experience and recommendations. Benatar Michael et al. Neurology 2016 May Similar articles in PubMed