MOLECULAR DIAGNOSTICS IN AUTISM SPECTRUM DISORDER: NEXT GENERATION SEQUENCING AND FACIAL PHENOTYPING IN MEDICAL GENETICS
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline
Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines
Why genomics shouldn't get too personal: In favor of filters: Re: Invited Comment by Holly K. Tabor et al. in American Journal of Medical Genetics Part A Volume 155
Why genomics shouldn't get too personal: In favor of filters: Re: Invited Comment by Holly K. Tabor et al. in American Journal of Medical Genetics Part A Volume 155
MOLECULAR DIAGNOSTICS IN AUTISM SPECTRUM DISORDER: NEXT GENERATION SEQUENCING AND FACIAL PHENOTYPING IN MEDICAL GENETICS
PACBIO; third -generation sequencing platform with Single Molecule Real Time technology (SMRT) (PACBIO)