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Dominyka Batkovskyte

Observed names: Batkovskyte, Dominyka, Dominyka Batkovskyte (18647992)
ORCID: 0000-0002-0492-1259
Observed ORCID: 0000-0002-0492-1259
OpenAlex ID: A5049941122
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
2020 · Yin-Huai Chen, Giedre Grigelioniene, et al. · The Journal of Experimental Medicine · 60
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De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features
2018 · Mari J. Tokita, Chun-An Chen, et al. · The American Journal of Human Genetics · 54
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COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay
2021 · Ronit Marom, Lindsay C. Burrage, et al. · The American Journal of Human Genetics · 41
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High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
2021 · Anna Hammarsjö, Maria Pettersson, et al. · Journal of Human Genetics · 36
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Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
2022 · Sen Zhao, Yuanqiang Zhang, et al. · npj Genomic Medicine · 26
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A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay
2022 · Cameron Young, Dominyka Batkovskyte, et al. · Human Genetics and Genomics Advances · 18
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Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
2020 · Dominyka Batkovskyte, Fiona McKenzie, et al. · Journal of Bone and Mineral Research · 17
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The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect
2024 · Ronit Marom, I-Wen Song, et al. · Journal of Clinical Investigation · 12
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
2024 · Angelica Maria Delgado-Vega, Helene Cederroth, et al. · Nature Genetics · 10
The level of protein in the maternal murine diet modulates the facial appearance of the offspring via mTORC1 signaling
2024 · Meng Xie, Markéta Kaiser, et al. · Nature Communications · 10
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Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta
2024 · Dominyka Batkovskyte, Diana Swolin‐Eide, et al. · American Journal of Medical Genetics Part A · 9
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Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome
2023 · Alexandra Garza Flores, Ida Nordgren, et al. · Frontiers in Genetics · 7
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders
2025 · Hillevi Lindelöf, Anna Hammarsjö, et al. · European Journal of Human Genetics · 6
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Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
2023 · Prince Jacob, Hillevi Lindelöf, et al. · npj Genomic Medicine · 5
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Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome
2023 · Dominyka Batkovskyte, Maya Komatsu, et al. · Clinical Genetics · 4
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COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay
2020 · Ronit Marom, Lindsay C. Burrage, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 1
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Works count: 19
Citation count: 319
H-index: 10
I10-index: 10
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