MafaldaBarbosaMD

Medical Genetics

Physician

Dr. Barbosa is on Doximity

As a Doximity member you'll join over two million verified healthcare professionals in a private, secure network.

Gain access to free telehealth tools, such as our “call shielding” and one-way patient texting.
Connect with colleagues in the same hospital or clinic.
Read the latest clinical news, personalized to your specialty.

Icahn School of Medicine at Mount SinaiResidency, Pediatrics/Medical Genetics and Genomics, 2017 - 2021
OtherClass of 2004

PubMed

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.
Bharati Jadhav, Paras Garg, Joke J F A van Vugt, Kristina Ibanez, Delia Gagliardi
Nature Genetics. 2024-11-01
3 citations
A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease.
Felix Richter, Kayleigh D Rutherford, Anisha J Cooke, Malorie Meshkati, Vanessa Eddy-Abrams
American Journal of Kidney Diseases. 2024-06-01
205 citations
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.
Jack M Fu, F Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L Collins
Nature Genetics. 2022-09-01