Simon Boutry - Publications, H-index & Citations

Simon Boutry

école polytechnique fédérale de lausanne

3H指数

18论文数

170被引数

收录论文 8

发表时间

Application of qualifying variants for genomic analysis

Bioinformatics

IF5.4

2026-01-22

OAAI

Dylan Lawless; Ali Saadat; Mariam Ait Oumelloul; Simon Boutry; Veronika Stadler; Sabine Österle; Jan Armida; David Haerry; D Sean Froese; Luregn J Schlapbach; Jacques Fellay; null

Long-term Outcomes of Pediatric CFSPID: A 15-Year Clinical and Genomic Study Across Newborn Screening Cystic Fibrosis Units 小儿CFSPID的长期结局：一项横跨新生儿筛查囊性纤维化单位的15年临床与基因组学研究

Archivos de Bronconeumologia

IF9.2

2026-01-09

OAAI

Ana Morales Tirado; Enrique Blitz Castro; Ana Tabares Gonzlez; Celia Gascoan Galindo; Saioa Vicente Santamaria; Carmen Luna Paredes; Enrique Salcedo Lobato; Simon Boutry; Adelaida Lamas Ferreiro

Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV)

JOURNAL OF INVESTIGATIVE DERMATOLOGY

IF5.7

2024-09-01

OAAI

De Bortoli, Martina; Queisser, Angela; Pham, Van Cuong; Dompmartin, Anne; Helaers, Raphal; Boutry, Simon; Claus, Cathy; De Roo, An-Katrien; Hammer, Frank; Brouillard, Pascal; Abdelilah-Seyfried, Salim; Boon, Laurence M.; Vikkula, Miikka

CCNF (Cyclin F) as a Candidate Gene for Familial Hodgkin Lymphoma: Additional Evidence for the Importance of Mitotic Checkpoint Defects in Tumorigenesis

HEMASPHERE

IF14.6

2023-12-01

OAAI

Khoury, Elsa; Maalouf, Hiba; Mendola, Antonella; Boutry, Simon; Camboni, Alessandra; D'Angiolella, Vincenzo; Choquet, Sylvain; Landman-Parker, Judith; Besson, Caroline; Poirel, Helene A.; Limaye, Nisha

Rare variant association on unrelated individuals in case-control studies using aggregation tests: existing methods and current limitations

BRIEFINGS IN BIOINFORMATICS

IF7.7

2023-11-15

OAAI

Boutry, Simon; Helaers, Raphael; Lenaerts, Tom; Vikkula, Miikka

Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2021-06-10

OAAI

Brouillard, Pascal; Schlogel, Matthieu J.; Homayun Sepehr, Nassim; Helaers, Raphael; Queisser, Angela; Fastre, Elodie; Boutry, Simon; Schmitz, Sandra; Clapuyt, Philippe; Hammer, Frank; Dompmartin, Anne; Weitz-Tuoretmaa, Annamaria; Laranne, Jussi; Pasquesoone, Louise; Vilain, Catheline; Boon, Laurence M.; Vikkula, Miikka

ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations

NUCLEIC ACIDS RESEARCH

IF13.1

2019-05-31

OAAI

Renaux, Alexandre; Papadimitriou, Sofia; Versbraegen, Nassim; Nachtegael, Charlotte; Boutry, Simon; Nowe, Ann; Smits, Guillaume; Lenaerts, Tom

Characterization and Applications of the Protein Corona Forming on the Naturally Occurring Nanoparticles, Low-Density Lipoproteins 天然纳米颗粒——低密度脂蛋白表面形成的蛋白质冠的表征与应用

ACS Central Science

IF10.4

PREAI

Ding Ren; Lixia Wei; Simon Boutry; Melis Özkan; Ekaterina Poliukhina; Laia Simo Riudalbas; Krisztian Homicsko; Daniel E. Speiser; Jacques Fellay; Quy Khac Ong; Francesco Stellacci

研究方向