European Journal Of Human Genetics高引用文章

• The Global State of the Genetic Counseling Profession

  引用次数：30

• Circulating cell-free nucleic acids: characteristics and applications

  引用次数：26

• Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

  引用次数：23

• Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

  引用次数：17

• De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1

  引用次数：17

• Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study

  引用次数：15

• Return of individual genomic research results: are laws and policies keeping step?

  引用次数：15

• Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

  引用次数：14

• Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders

  引用次数：14

• European guidelines for constitutional cytogenomic analysis

  引用次数：14