Last Posted: Aug 27, 2019
- Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.
Wang Huilin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Aug - Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Munnich Arnold et al. Molecular autism 2019 1033 - Cell-free fetal DNA screening for detection of microdeletion syndromes: A cost-effectiveness analysis.
Avram Carmen M et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2019 Jul 1-251 - Genomic profiling of blood-derived circulating tumor DNA from patients with colorectal cancer: Implications for response and resistance to targeted therapeutics.
Choi In Sil et al. Molecular cancer therapeutics 2019 Jul - What is the role of next generation sequencing in status epilepticus?
Guerrini Renzo et al. Epilepsy & behavior : E&B 2019 Jul - Genetic Susceptibility to Chronic Kidney Disease - Some More Pieces for the Heritability Puzzle.
Cañadas-Garre Marisa et al. Frontiers in genetics 2019 10453 - Additive Diagnostic Yield of Homozygosity Regions Identified During Chromosomal microarray Testing in Children with Developmental Delay, Dysmorphic Features or Congenital Anomalies.
Ali Mohamed A M et al. Biochemical genetics 2019 Jul - Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis.
Franch-Expósito Sebastià et al. Journal of genetics and genomics = Yi chuan xue bao 2018 45(1) 41-45 - Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis.
Chau Matthew Hoi Kin et al. American journal of obstetrics and gynecology 2019 Jun - Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women.
Cao Wen-Ming et al. BMC cancer 2019 Jun 19(1) 551
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