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职业迁徙
个人简介
PI of the Human Phenotype Ontology project. Algorithm development for genomics including exome and genome sequencing, RNA-seq, Immunosequencing, Capture Hi-C, and ChIP-seq. Previously certified Pediatrician and 15 years of experience in Medical Genetics. Discovery of several Mendelian disease-associated genes and investigations on genotype-phenotype correlations and pathobiology in Marfan syndrome.
研究兴趣
论文共 604 篇作者统计合作学者相似作者
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Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray,Michael Duyzend,Peter N Robinson,Damian Smedley
Manish Kumar, Anthony Pettinato,Feria Ladha, Jacob E Earp, Varun Jain, Shivaraj Patil, Daniel T Engelman,Peter F Robinson, Mohamad B Moumneh, Parag Goyal,Abdulla A Damluji
Heart (British Cardiac Society)pp.heartjnl-2024, (2024)
David Lagorce, Emeline Lebreton,Leslie Matalonga, Oscar Hongnat, Maroua Chahdil,Davide Piscia,Ida Paramonov,Kornelia Ellwanger,Sebastian Köhler,Peter Robinson,Holm Graessner,Sergi Beltran,
medRxiv : the preprint server for health sciences (2024)
Marco Nicolini,Dario Malchiodi,Alberto Cabri, Emanuele Cavalleri,Marco Mesiti,Alberto Paccanaro,Peter N. Robinson,Justin T. Reese,Elena Casiraghi,Giorgio Valentini
International Joint Conference on Biomedical Engineering Systems and Technologiespp.561-568, (2024)
Shawn T O'Neil,Kevin Schaper, Glass Elsarboukh,Justin T Reese,Sierra A T Moxon,Nomi L Harris,Monica C Munoz-Torres,Peter N Robinson,Melissa A Haendel, Christopher J Mungall
biorxiv(2024)
Yongqun Oliver He,Laura Barisoni,Avi Z Rosenberg,Peter Robinson, Alexander D Diehl, Yichao Chen, Jimmy P Phuong,Jens Hansen,Bruce W Herr,Katy Börner,Jennifer Schaub, Nikki Bonevich,
bioRxiv : the preprint server for biology (2024)
Scientific datano. 1 (2024): 363-363
Pilar Cacheiro, Samantha Lawson, Ignatia B. Van den Veyver, Gabriel Marengo, David Zocche, Stephen A. Murray,Michael Duyzend,Peter N. Robinson,Damian Smedley
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