Miranda Di Biase

Detection of mosaic variants using genome sequencing in a large pediatric cohort

V. Jobanputra, B. Gelb, E. Kenny, 2022, American journal of medical genetics. Part A.

eP236: TeleKidSeq: Incorporating telehealth into clinical care of children from diverse backgrounds undergoing clinical genome sequencing

V. Jobanputra, C. Cunningham-Rundles, E. Kenny, 2022, Genetics in Medicine.

The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing

V. Jobanputra, C. Cunningham-Rundles, B. Gelb, 2023, Pilot and Feasibility Studies.

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

V. Jobanputra, A. Abhyankar, B. Gelb, 2023, medRxiv.

Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program

V. Jobanputra, A. Abhyankar, B. Gelb, 2023, Clinical genetics.