Rossana Sanchez Russo

Assistant Professor of Human Genetics

Emory University

United States

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About

Rossana Sanchez Russo is an Assistant Professor of Human Genetics at Emory University, located in the United States. Her research focuses on genetic disorders, specifically in areas such as cystic fibrosis, arginase 1 deficiency, and neurodevelopmental disorders. She has contributed to significant studies evaluating screening algorithms and the efficacy of targeted therapies for various genetic conditions.

Articles (16)

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2025

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2025

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2020

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2020

Collaborators (12)

Gregory Enns

Professor of Pediatrics

Stanford University

UNITED STATES

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Kathryn Oliver

Assistant Professor

Emory University School of Medicine

UNITED STATES

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Ryan Purcell

Assistant Professor

Emory University School of Medicine

UNITED STATES

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Yin Dong

University of Oxford

UNITED KINGDOM

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Christopher T. Gordon

FRANCE

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Tamara Caspary

Emory University

UNITED STATES

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Denise Imai

Health Sciences Clinical Professor

University of California Davis School of Veterinary Medicine

UNITED STATES

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William Graf

Professor

Connecticut Children's Medical Center

UNITED STATES

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Jennifer G. Mulle

Emory University School of Medicine

UNITED STATES

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Emma M Wade

University of Otago

NEW ZEALAND

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Rachel Linnemann

Emory University School of Medicine

UNITED STATES

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Stormi White

Assistant Professor

Emory University

UNITED STATES

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Rossana Sanchez Russo

Research Interests

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About

Articles (16)

Evaluating Georgia’s Cystic Fibrosis Newborn Screening Algorithm to Inform Improvement Recommendations

CFTR Variant Frequencies and Newborn Screening Panel Performance in the Diverse CF Population Receiving Care in the State of Georgia

Long‐Term Efficacy and Tolerability of Pegzilarginase in Arginase 1 Deficiency: Results of Two International Multicentre Open‐Label Extension Studies

The spectrum of heart defects in the <i>TRAF7</i> -related multiple congenital anomalies-intellectual disability syndrome

De novo variants in DENND5B cause a neurodevelopmental disorder

Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trial

Musculoskeletal phenotypes in 3q29 deletion syndrome.

PEGZILARGINASE IN ARGINASE 1 DEFICIENCY: RESULTS OF THE PEACE PIVOTAL PHASE 3 CLINICAL TRIAL

Exon skip‐inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia

Craniofacial features of 3q29 deletion syndrome: Application of next‐generation phenotyping technology

Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.

Retinal degeneration in mice and humans with neuronal ceroid lipofuscinosis type 8

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome

Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.

Collaborators (12)

Gregory Enns

Kathryn Oliver

Ryan Purcell

Yin Dong

Christopher T. Gordon

Tamara Caspary

Denise Imai

William Graf

Jennifer G. Mulle

Emma M Wade

Rachel Linnemann

Stormi White

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