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Profile

Rossana Sanchez Russo

  • Department of Human Genetics
    Assistant Professor
  • rossana.sanchez@emory.edu
  • 1365 Clifton Road, NE
    Building A, Suite 1500
    Atlanta, GA 30322
Head shot of Rossana Sanchez Russo

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

  • 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
  • Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome.
    Transl Psychiatry Volume: 11 Page(s): 357
    06/15/2021 Authors: Sefik E; Purcell RH; Emory 3q29 Project; Walker EF; Bassell GJ; Mulle JG
  • Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.
    Mol Genet Metab Rep Volume: 27 Page(s): 100735
    06/01/2021 Authors: Huang Y; Sharma R; Feigenbaum A; Lee C; Sahai I; Sanchez Russo R; Neira J; Brooks SS; Jackson KE; Wong D
  • Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.
    Genet Med Volume: 23 Page(s): 872 - 880
    05/01/2021 Authors: Sanchez Russo R; Gambello MJ; Murphy MM; Aberizk K; Black E; Burrell TL; Carlock G; Cubells JF; Epstein MT; Espana R
  • Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
    J Inherit Metab Dis Volume: 43 Page(s): 1333 - 1348
    11/01/2020 Authors: Ng BG; Eklund EA; Shiryaev SA; Dong YY; Abbott M-A; Asteggiano C; Bamshad MJ; Barr E; Bernstein JA; Chelakkadan S
  • Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report.
    BMC Psychiatry Volume: 20 Page(s): 184
    04/22/2020 Authors: Murphy MM; Burrell TL; Cubells JF; Epstein MT; Espana R; Gambello MJ; Goines K; Klaiman C; Koh S; Russo RS
  • Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
    Genet Med Volume: 22 Page(s): 524 - 537
    03/01/2020 Authors: Zawerton A; Mignot C; Sigafoos A; Blackburn PR; Haseeb A; McWalter K; Ichikawa S; Nava C; Keren B; Charles P
  • Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.
    Int J Neonatal Screen Volume: 6
    03/01/2020 Authors: Hall PL; Sanchez R; Hagar AF; Jerris SC; Wittenauer A; Wilcox WR
  • Novel PLEC gene variants causing congenital myasthenic syndrome.
    Muscle Nerve Volume: 60 Page(s): E40 - E43
    12/01/2019 Authors: Gonzalez Garcia A; Tutmaher MS; Upadhyayula SR; Sanchez Russo R; Verma S
  • HOLOCARBOXYLASE SYNTHETASE DEFICIENCY IN THE ERA OF THE NEWBORN SCREENING; BIOCHEMICAL PATTERNS FOLLOWING ELEVATED C5OH MASQUERADING AS 3-MCC DEFICIENCY
    Volume: 126 Page(s): 283 - 283
    03/01/2019 Authors: Alali A; Li H; Sanchez R; Neira J; Gambello M
  • Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry.
    Mol Autism Volume: 10 Page(s): 30
    01/01/2019 Authors: Pollak RM; Murphy MM; Epstein MP; Zwick ME; Klaiman C; Saulnier CA; Emory 3q29 Project; Mulle JG
  • Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review.
    J Pediatr Volume: 202 Page(s): 315 - 319.e2
    11/01/2018 Authors: Mullikin D; Pillai N; Sanchez R; O'Donnell-Luria AH; Kritzer A; Tal L; Almannai M; Berry GT; Gambello MJ; Li H
  • Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome.
    BMC Psychiatry Volume: 18 Page(s): 183
    06/08/2018 Authors: Murphy MM; Lindsey Burrell T; Cubells JF; Espaa RA; Gambello MJ; Goines KCB; Klaiman C; Li L; Novacek DM; Papetti A
  • Planning, implementation, and initial results of newborn screening for Pompe disease and MPS I in Georgia
    Volume: 123 Page(s): S47 - S47
    02/01/2018 Authors: Foley A; Cagle S; Hagar A; Hall P; Laney D; Russo RS; Wittenauer A; Wilcox WR
  • Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features.
    Am J Ophthalmol Case Rep Volume: 4 Page(s): 50 - 53
    12/01/2016 Authors: Sanchez RL; Yan J; Richards S; Mierau G; Wartchow EP; Collins CD; Shankar SP
  • IDENTIFIYING PATIENTS WITH VLCAD DEFICIENCY PRESENTING WITH AN ABNORMAL NBS USING INTEGRATED METHODS
    Molecular Genetics and Metabolism Volume: 117
    01/01/2016 Authors: Sanchez Russo R; Singh R; Gambello M; Wittenauer A; Narlow K; Hall P; Li H
  • Describing genetic variation and panel detection rates for a diverse cystic fibrosis center in Georgia
    Journal of Cystic Fibrosis
    Authors: Sanchez Russo R; Barr E; Linnemann R; Oliver K; truitt B
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