文章名稱引用次數(shù)

• The Global State of the Genetic Counseling Profession30
• Circulating cell-free nucleic acids: characteristics and applications26
• Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis23
• Association of modifiers and other genetic factors explain Marfan syndrome clinical variability17
• De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 117
• Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study15
• Return of individual genomic research results: are laws and policies keeping step?15
• Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles14
• Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders14
• European guidelines for constitutional cytogenomic analysis14