Ieva Mičule

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J. Kaiser, Morad Ansari, Diana Braunholz et al. · Human Molecular Genetics · 2014 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Plasma neurofilament light chain as a potential biomarker in Charcot‐Marie‐Tooth disease

Elīna Millere, Dmitrijs Rots, Joel Simrén et al. · European Journal of Neurology · 2020 · 53 citations

Medicine, Neurology, Neuroscience +15

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms

Maninder Kaur, Justin Blair, Batsal Devkota et al. · American Journal of Medical Genetics Part A · 2023 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

New-Born Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study

Linda Gailīte, Olga Šterna, Maija Konika et al. · International Journal of Neonatal Screening · 2022 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

Sen Zhao, Yuanqiang Zhang, Sigrún Hallgrímsdóttir et al. · npj Genomic Medicine · 2022 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16