Last Posted: Aug 01, 2019
- Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data.
Trefz K F et al. Orphanet journal of rare diseases 2019 Jul 14(1) 181
- Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.
Rabin Rachel et al. American journal of medical genetics. Part A 2019 Jul
- Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.
Trinh Joanne et al. Journal of neurodevelopmental disorders 2019 Jun 11(1) 11
- Prenatal genetic diagnosis of Neu-Laxova syndrome.
Wood Amber M et al. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2018 Apr 38(3) 413-414
- The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Abu Diab Alaa et al. Acta ophthalmologica 2019 Mar
- Paediatricians underuse recommended genetic tests in children with global developmental delay.
Tremblay Isabelle et al. Paediatrics & child health 2018 Dec 23(8) e156-e162
- Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research.
Innes A Micheil et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Dec 178(4) 387-397
- Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
Kashimada Ayako et al. Brain & development 2018 Oct
- Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls.
Lallar Meenakshi et al. Indian pediatrics 2018 55(6) 474-477
- CLINGEN Actionability Report for Phenylketonuria (PKU) - PAH
ClinGen Actionability Working Group
- Identical Twins Hint at How Environments Change Gene Expression
Studying twins has long offered insight into the interplay of nature and nurture. Epigenetics is the next frontier. E Hayasaki, The Atlantic, May 2018
- Genetic heterogeneity in Pakistani microcephaly families revisited.
Ahmad I et al. Clinical genetics 2017 Jul 92(1) 62-68
- Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.
Prasad Aparna et al. BMC medical genetics 2018 Mar 19(1) 46
- Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Ivanovski Ivan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan
- The genetics of congenitally small brains.
Duerinckx Sarah et al. Seminars in cell & developmental biology 2017 Sep
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.