Rossana Sanchez Russo
- Department of Human Genetics
Assistant Professor
-
1365 Clifton Road, NE
Building A, Suite 1500
Atlanta, GA 30322
Overview
I am a clinical and biochemical geneticist in the Division of Medical Genetics. I specialize in the diagnosis and treatment of metabolic disorders including lysosomal storage diseases as well as genetic disorders with or without dysmorphic features and intellectual disability. I completed my Pediatrics Residency at Nicklaus Children's Hospital Miami, FL and completed both my Genetics and Biochemical Genetics Training at Emory University in Atlanta, GA.
I currently serve as Co-Chair of the Human Genetics and Evolution Module for first year medical students at Emory SOM.
I am the physician champion for the telemedicine initiative at the Emory Genetics Clinic.
Areas of Specialization
-Clinical Genetics
-Biochemical Genetics
-Newborn Screening
-Lysosomal Storage Disorders
-Vascular Anomalies and Overgrowth Disorders
-Craniofacial Disorders - Cleft Lip and Palate
Academic Appointment
- Assistant Professor of Human Genetics, Emory University School of Medicine
Research
Publications
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The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
Proc Natl Acad Sci U S A Volume: 121 Page(s): e2317601121
03/19/2024 Authors: Pisan E; De Luca C; Brancati F; Sanchez Russo R; Li D; Bhoj E; Wenger T; Marwaha A; Johnson N; Beneteau C -
De novo variants in DENND5B cause a neurodevelopmental disorder.
Am J Hum Genet Volume: 111 Page(s): 529 - 543
03/07/2024 Authors: Scala M; Tomati V; Ferla M; Lena M; Cohen JS; Fatemi A; Brokamp E; Bican A; Phillips JA; Koziura ME -
Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trial.
EClinicalMedicine Volume: 68 Page(s): 102405
02/01/2024 Authors: Russo RS; Gasperini S; Bubb G; Neuman L; Sloan LS; Diaz GA; Enns GM; PEACE Investigators -
Musculoskeletal phenotypes in 3q29 deletion syndrome.
Am J Med Genet A Volume: 191 Page(s): 2749 - 2756
11/01/2023 Authors: Pollak RM; Tilmon JC; Murphy MM; Gambello MJ; Sanchez Russo R; Dormans JP; Mulle JG -
Musculoskeletal phenotypes in 3q29 deletion syndrome.
medRxiv
04/03/2023 Authors: Pollak RM; Tilmon JC; Murphy MM; Gambello MJ; Russo RS; Dormans JP; Mulle JG -
PEGZILARGINASE IN ARGINASE 1 DEFICIENCY: RESULTS OF THE PEACE PIVOTAL PHASE 3 CLINICAL TRIAL
Molecular Genetics and Metabolism Volume: 135 Page(s): 269 - 269
04/20/2022 Authors: Sanchez Russo R; Enns G; Bradford E; Bibb G; Sloan L; Gasperini S; Diaz G -
Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.
Am J Med Genet A Volume: 185 Page(s): 3675 - 3682
12/01/2021 Authors: Wade EM; Jenkins ZA; Morgan T; Gimenez G; Gibson H; Peng H; Sanchez Russo R; Skraban CM; Bedoukian E; Robertson SP -
Patient characteristics in the pivotal phase 3 PEACE trial of pegzilarginase human enzyme therapy for Arginase 1 Deficiency
Journal of Inherited Metabolic Disease Volume: 44
11/30/2021 Authors: Sanchez Russo R; Bubb G; Enns G; Bradford E; Gasperini S; Diaz G -
Retinal degeneration in mice and humans with neuronal ceroid lipofuscinosis type 8.
Ann Transl Med Volume: 9 Page(s): 1274
08/01/2021 Authors: Salpeter EM; Leonard BC; Lopez AJ; Murphy CJ; Thomasy S; Imai DM; Grimsrud K; Lloyd KCK; Yan J; Sanchez Russo R -
Craniofacial features of 3q29 deletion syndrome: Application of next-generation phenotyping technology.
Am J Med Genet A Volume: 185 Page(s): 2094 - 2101
07/01/2021 Authors: Mak BC; Sanchez Russo R; Gambello MJ; Fleischer N; Black ED; Leslie E; Murphy MM; Emory 3q29 Project; Mulle JG