Alban Ziegler

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang et al. · Neuron · 2020 · 222 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Estelle Colin, Jens Daniel, Alban Ziegler et al. · The American Journal of Human Genetics · 2016 · 124 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

Alban Ziegler, Carrie Koval‐Burt, Denise M. Kay et al. · JAMA · 2024 · 103 citations · Full text

Medicine, Genetics, Pediatrics +17

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Karin Weiss, Hayley P. Lazar, Alina Kurolap et al. · Genetics in Medicine · 2019 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe et al. · Genetics in Medicine · 2019 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17