Rossana Sanchez Russo

Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome

Melissa M. Murphy, T. Lindsey Burrell, Joseph F. Cubells et al. · BMC Psychiatry · 2018 · 52 citations · Full text

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

Rossana Sanchez Russo, Michael J. Gambello, Melissa M. Murphy et al. · Genetics in Medicine · 2021 · 46 citations · Full text

Predominant and novel de novo variants in 29 individuals with <scp><i>ALG13</i></scp> deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Bobby G. Ng, Erik A. Eklund, Sergey A. Shiryaev et al. · Journal of Inherited Metabolic Disease · 2020 · 36 citations · Full text

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Ash Zawerton, Cyril Mignot, Ashley Sigafoos et al. · Genetics in Medicine · 2019 · 35 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Brain Development +9

Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction

Patricia Hall, Rossana Sanchez Russo, Arthur F. Hagar et al. · International Journal of Neonatal Screening · 2020 · 32 citations · Full text

Enzyme Assays, Neonatology, Pilot Newborn Screening +18