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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Reproductive and Child Health
Last data update: Apr 17, 2024
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all[original query]>>Guidelines Related[Product Type]
Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID.
Deanna M Green et al. Pediatrics 2024
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Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children.
Danya F Vears et al. Twin Res Hum Genet 2024 1-8
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Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Theresa A Grebe et al. Genet Med 2024 101052
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A holistic approach to fragile X syndrome integrated guidance for person-centred care.
Kirsten Johnson et al. J Appl Res Intellect Disabil 2024 37(3) e13214
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Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project.
T Aversa et al. J Endocrinol Invest 2024
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International Atherosclerosis Society Roadmap for Familial Hypercholesterolaemia.
Gerald F Watts et al. Glob Heart 2024 19(1) 12
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Improving care for rare genetic neurodevelopmental disorders: a systematic review and critical appraisal of clinical practice guidelines using AGREE II.
Mirthe J Klein Haneveld et al. Genet Med 2024 101071
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Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.
Júlio César Rocha et al. Nutrients 2023 15(18)
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Recommendations for the use of pediatric data in artificial intelligence and machine learning ACCEPT-AI.
V Muralidharan et al. NPJ Digit Med 2023 6(1) 166
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Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening.
Margie A Ream et al. Pediatrics 2023
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Ethical challenges in autism genomics: Recommendations for researchers.
Heini M Natri et al. Eur J Med Genet 2023 66(9) 104810
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The Lancet Haematology Commission on sickle cell disease: key recommendations
The Lancet Haematology Commission on sickle cell disease: Lancet Hematology, July 2023
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Jeffrey S Dungan et al. Genet Med 2023 100874
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Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations.
Amy Cunningham et al. Orphanet J Rare Dis 2023 18(1) 155
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Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil.
Ida Vanessa Doederlein Schwartz et al. Arq Neuropsiquiatr 2023
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Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Joshua L Deignan et al. Genet Med 2023 100867
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International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia.
Gerald F Watts et al. Nat Rev Cardiol 2023
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Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)
JL Deignan et al, Genetics in Medicine, June 13, 2023
Significant haemoglobinopathies: A guideline for screening and diagnosis: A British Society for Haematology Guideline: A British Society for Haematology Guideline.
Barbara J Bain et al. Br J Haematol 2023 201(6) 1047-1065
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Human Genetics Society of Australasia Position Statement: Genetic Carrier Testing for Recessive Conditions.
Danya F Vears et al. Twin Res Hum Genet 2023 1-7
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Indications and management of preimplantation genetic testing for monogenic conditions: a committee opinion.
et al. Fertil Steril 2023
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2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance.
Marina Cuchel et al. Eur Heart J 2023
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Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Tarekegn Geberhiwot et al. Orphanet J Rare Dis 2023 18(1) 85
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[Comparison and interpretation of etiological diagnosis guidelines for genetic deafness between China and the United States].
H E Xu et al. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2023 58(4) 416-418
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DEGUM Recommendations on Diagnostic Puncture in Prenatal Medicine.
Christiane Kähler et al. Ultraschall in der Medizin (Stuttgart, Germany : 1980) 2023
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Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).
Melissa T Carter et al. Journal of medical genetics 2023
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Expanded carrier screening for reproductive risk assessment: An evidence-based practice guideline from the National Society of Genetic Counselors.
Katelynn G Sagaser et al. Journal of genetic counseling 2023
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Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Erik Boot et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100344
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Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Sólveig Óskarsdóttir et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100338
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International Consensus Guideline on Small for Gestational Age (SGA): Etiology and Management from Infancy to Early Adulthood.
Hokken-Koelega Anita C S et al. Endocrine reviews 2023
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 17, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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