Dominyka Batkovskyte

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

Yin‐Huai Chen, Giedré Grigelioniené, Phillip T. Newton et al. · The Journal of Experimental Medicine · 2020 · 61 citations · Full text

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

Mari Tokita, Chun‐An Chen, David Chitayat et al. · The American Journal of Human Genetics · 2018 · 50 citations · Full text

Developmental Anomaly, Allelic Variant, Developmental Biology +8

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

Ronit Marom, Lindsay C. Burrage, Rossella Venditti et al. · The American Journal of Human Genetics · 2021 · 37 citations · Full text

Bone Disease, Developmental Biology, Bone Morphogenic Protein +5

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

Anna Hammarsjö, Maria Pettersson, David Chitayat et al. · Journal of Human Genetics · 2021 · 32 citations · Full text

Skeletal Ciliopathies, Engineering, Parallel Sequencing +23

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

Sen Zhao, Yuanqiang Zhang, Sigrún Hallgrímsdóttir et al. · npj Genomic Medicine · 2022 · 24 citations · Full text

Short Stature, Genetics, Genetic Epidemiology +20