Frances Velez‐Bartolomei

Fractionated plasma N‐glycan profiling of novel cohort of <scp>ATP6AP1‐CDG</scp> subjects identifies phenotypic association

Hana Alharbi, Earnest James Paul Daniel, Jenny Thies et al. · Journal of Inherited Metabolic Disease · 2023 · 15 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +9

<scp>Aicardi‐Goutières</scp> syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy

Christina G. Tise, Andrés Morales, Ariel S. Lee et al. · American Journal of Medical Genetics Part A · 2021 · 14 citations

Medicine, Endocrinology, Pediatrics +14

Characterization of the prenatal renal phenotype associated with 17q12, <i>HNF1B</i>, microdeletions

Courtney P. Verscaj, Frances Velez‐Bartolomei, Ethan E. Bodle et al. · Prenatal Diagnosis · 2023 · 13 citations · Full text

Medicine, Molecular Genetics, Nephrology +17

Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1

Ethan E. Bodle, Wenmiao Zhu, Frances Velez‐Bartolomei et al. · Pediatric Neurology · 2020 · 11 citations

Life Sciences, Genetics, Molecular Genetics +12