What's New

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