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Scientific Expertise

posters  —  1 April Apr 2019

Thrombocytopenia-absent radius syndrome 1q21.1 deletions in the prenatal and postnatal setting: Analysis of inheritance and ascertainment in a large cohort

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posters  —  1 April Apr 2019

Family history of autism spectrum disorder (ASD) in the preconception/prenatal genetic counseling session

Read More about Family history of autism spectrum disorder (ASD) in the preconception/prenatal genetic counseling session
posters  —  1 April Apr 2019

The role of whole genome sequencing in clinical diagnosis

Read More about The role of whole genome sequencing in clinical diagnosis
posters  —  1 April Apr 2019

Recommendations versus practice patterns: The uptake of chromosomal microarray testing in prenatal patients with fetal structural ultrasound abnormalities

Read More about Recommendations versus practice patterns: The uptake of chromosomal microarray testing in prenatal patients with fetal structural ultrasound abnormalities
posters  —  1 April Apr 2019

Counseling complexities of expanded carrier screening: An ATM case report

Read More about Counseling complexities of expanded carrier screening: An ATM case report
posters  —  1 April Apr 2019

Microarray detection of mosaicism in prenatal and POC specimens: More complexity with better technology

Read More about Microarray detection of mosaicism in prenatal and POC specimens: More complexity with better technology
posters  —  1 April Apr 2019

Diagnosing Angelman and Prader-Willi syndromes prenatally: DNA methylation outcomes following varied initial indications

Read More about Diagnosing Angelman and Prader-Willi syndromes prenatally: DNA methylation outcomes following varied initial indications
posters  —  1 April Apr 2019

MaterniT® 21 PLUS performance in lower fetal fraction samples

Read More about MaterniT® 21 PLUS performance in lower fetal fraction samples
posters  —  31 March Mar 2019

Proteomic genotyping: When quantitation doesn´t matter, but quality still does

Read More about Proteomic genotyping: When quantitation doesn´t matter, but quality still does
posters  —  29 March Mar 2019

Genome-wide sequencing of cell-free DNA enables detection of copy number alterations in cancer patients where tissue biopsy is not feasible

Read More about Genome-wide sequencing of cell-free DNA enables detection of copy number alterations in cancer patients where tissue biopsy is not feasible
posters  —  4 March Mar 2019

HIV resistance associated mutations observed in cell-associated DNA sequencing assay

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posters  —  22 February Feb 2019

Sensitization profiles to hazelnut allergen components across the United States of America

Read More about Sensitization profiles to hazelnut allergen components across the United States of America