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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 650 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
PRENATAL DIAGNOSISno. 4 (2024): 454-464
Michael A Gargano,Nicolas Matentzoglu,Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos,Joel Anderton,Paul Avillach,Anita M Bagley,Eduard Bakštein,James P Balhoff,Gareth Baynam,Susan M Bello,
Nucleic acids researchno. D1 (2024): D1333-D1346
Anando Sen, Victoria Hedley,Eva Degraeuwe, Steven Hirschfeld,Ronald Cornet, Ramona Walls, John Owen, Peter N. Robinson, Edward G. Neilan, Thomas Liener, Giovanni Nisato,Neena Modi,
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
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)
PEDIATRIC DIABETES (2024)
eBioMedicine (2024): 105144-105144
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