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Miguel Rodriguez de los Santos
Miguel Rodriguez de los Santos
Icahn School of Medicine at Mount Sinai
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Cited by
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Year
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation
M Holtgrewe, A Knaus, G Hildebrand, JT Pantel, ...
Scientific reports 8 (1), 14611, 2018
312018
A CRISPR-Cas9–engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions
MR de los Santos, M Rivalan, FS David, A Stumpf, J Pitsch, ...
Proceedings of the National Academy of Sciences 118 (2), 2021
92021
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
U Kornak, N Saha, B Keren, A Neumann, ALT Tavares, J Piard, J Kopp, ...
Genetics in Medicine, 2022
32022
A CRISPR-Cas9–engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions
MR de los Santos, M Rivalan, FS David, A Stumpf, J Pitsch, ...
bioRxiv, 2020
3*2020
Exploring the transcriptional landscape of hippocampus cells in homozygous Pigv c. 1022C> A knock-in mice by single-cell RNA-sequencing
FS David, MR de los Santos, A Knaus, D Mattei, B Timmermann, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 338-339, 2020
2020
Crispr-Cas9-engineered Pigv (341E) mouse model mirrors the human phenotype, reveals a hippocampal synaptic defect and suggests a major role of impaired Abl1/Ephrin signaling …
MR de los Santos, M Rivalan, FS David, A Knaus, A Stumpf, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 35-36, 2020
2020
Asymmetrical and Chemical-modified Donor-DNA Leads to Efficient Knock-ins of Pathogenic Mutations at CRISPR-Cas9-induced DNA Double Strand Breaks
MR de los Santos, A Knaus, B Fischer-Zirnsak, L Wittler, S Mundlos, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 27, 235-236, 2019
2019
PEDIA study Phase 2: Prioritizing Exomes of unsolved patients with Image Analysis
PM Krawitz, I Vrecar, S Kamphausen, J Zschocke, D Mitter, S Wilson, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 26, 73-74, 2018
2018
Characterization of Glycosylphosphatidylinositol Biosynthesis Defects on biomarkers, phenotypic data and automated image analysis
A Knaus, MR de los Santos, S Mundlos, PM Krawitz, D Horn
EUROPEAN JOURNAL OF HUMAN GENETICS 26, 335-335, 2018
2018
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