基本信息
views: 195

Bio
Her main research concerns Genetics, Mutation, Gene, Missense mutation and Internal medicine. Her study in Haploinsufficiency, Proto-Oncogene Proteins c-ret, Candidate gene, Penetrance and Genome-wide association study is carried out as part of her Genetics studies. In her work, Endothelin 3 and Hirschsprung's disease is strongly intertwined with Neurocristopathy, which is a subfield of Penetrance.
Her research in Mutation intersects with topics in Enzyme, Optic disk and Congenital central hypoventilation syndrome. Her Missense mutation research is multidisciplinary, incorporating elements of Heterozygote advantage, Encephalopathy and Frameshift mutation. Her Internal medicine research incorporates elements of Endocrinology, Low birth weight and Overgrowth syndrome.
Her research in Mutation intersects with topics in Enzyme, Optic disk and Congenital central hypoventilation syndrome. Her Missense mutation research is multidisciplinary, incorporating elements of Heterozygote advantage, Encephalopathy and Frameshift mutation. Her Internal medicine research incorporates elements of Endocrinology, Low birth weight and Overgrowth syndrome.
Research Interests
Papers共 390 篇Author StatisticsCo-AuthorSimilar Experts
By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
Saranda Ombashi, Jop C G Wagemans, Victor R van Roey,Jeanne Amiel, Eva Galliani, Roman H Khonsari, Víctor Zafra Vallejo, Michael Krimmel, Krzysztof Dowgierd, Eppo B Wolvius
The Journal of craniofacial surgery (2025)
Cecile Olivia Muller,Fanny Delehaye,Christopher T. Gordon,Aurore Pire,Alaa Cheikhelard,Carmen Capito, Veronique Rousseau,Jeanne Amiel,Sabine Sarnacki
PEDIATRIC BLOOD & CANCER (2025)
Christopher C.Y. Mak,Hannah Klinkhammer,Sanaa Choufani, Nikola Reko, Angela K. Christman, Elise Pisan, Martin M.C. Chui, Mianne Lee, Fiona Leduc,Jennifer C. Dempsey, Pedro A. Sanchez-Lara, Hannah M. Bombei, John A. Bernat,Laurence Faivre, Frederic Tran Mau-Them, Irene Valenzuela Palafoll,Natalie Canham,Ajoy Sarkar,Yuri A. Zarate,Bert Callewaert, Ewelina Bukowska-Olech,Aleksander Jamsheer,Andreas Zankl,Marjolaine Willems, Laura Duncan,Bertrand Isidor, Benjamin Cogne,Odile Boute,Clémence Vanlerberghe,Alice Goldenberg, Elliot Stolerman, Karen J. Low, Vianney Gilard,Jeanne Amiel, Angela E. Lin,Christopher T. Gordon,Dan Doherty, Peter M. Krawitz,Rosanna Weksberg, Tzung-Chien Hsieh,Brian H.Y. Chung
EBioMedicine (2025): 105677
Cited0Views0Bibtex
0
0
Lucie Genet,Sonia Khirani,Nancy Vegas,Lucie Griffon, Pauline Adnot, Agnès Giuseppi,Jeanne Amiel, Véronique Soupre, Véronique Abadie,Brigitte Fauroux
Journal of the European Academy of Dermatology and Venereology JEADV (2025)
Muhammed Cagri Bayraktutan,Abigail Sveden, Raymond Belanger,Ellen Hanson, Jack Murray,Edward Yang, Jada Cameron, Elizabeth Buttermore,Dustin Gable,Kellen Winden, Celia Tam, Vikram Prakash,Laura Trujillano,Himanshu Goel, Charlotte von der Lippe, Amelle Shillington, Yvan Herenger,Britton Zuccarelli, Linda Rosetti, Kendra Engleman,Tinatin Tkemaladze, Robert Maiwald, Amaia Lasa Aranzasti, Christopher Barnett,Marco Tartaglia, Seema Lalani, Wen-Hann Tan,Jeanne Amiel, Christopher Gordon,Mustafa Sahin,Maya Chopra
Genetics in Medicine Open (2025): 102108
Cited0Views0Bibtex
0
0
Christopher C Y Mak,Hannah Klinkhammer,Sanaa Choufani, Nikola Reko, Angela K Christman, Elise Pisan, Martin M C Chui, Mianne Lee, Fiona Leduc,Jennifer C Dempsey, Pedro A Sanchez-Lara, Hannah M Bombei, John A Bernat,Laurence Faivre, Frederic Tran Mau-Them, Irene Valenzuela Palafoll,Natalie Canham,Ajoy Sarkar,Yuri A Zarate,Bert Callewaert, Ewelina Bukowska-Olech,Aleksander Jamsheer,Andreas Zankl,Marjolaine Willems, Laura Duncan,Bertrand Isidor, Benjamin Cogne,Odile Boute,Clémence Vanlerberghe,Alice Goldenberg, Elliot Stolerman, Karen J Low, Vianney Gilard,Jeanne Amiel, Angela E Lin,Christopher T Gordon,Dan Doherty, Peter M Krawitz,Rosanna Weksberg, Tzung-Chien Hsieh,Brian H Y Chung
EBioMedicine (2025): 105677-105677
M S-MEDECINE SCIENCESno. 4 (2024): 377-380
Véronique Pingault,Cécilia Neiva-Vaz,Judite de Oliveira,Núria Martínez-Gil,Amaia Lasa-Aranzasti,Berta Campos,Inge M. M. Lakeman,Esther A. R. Nibbeling,Radka Stoeva,Parul Jayakar,Tabib Dabir,Houda Zghal Elloumi,Alanna Strong, Sylvain Hanein,Arnaud Picard,Francoise Ochsenbein, Pierre Blanc,Jeanne Amiel
Marie Massier,Martine Doco-Fenzy,Matthieu Egloff,Xavier Le Guillou,Gwenael Le Guyader,Sylvia Redon,Caroline Benech, Karine Le Millier,Kevin Uguen,Juliette Ropars,Elise Sacaze,Severine Audebert-Bellanger,Andreea Apetrei,Arnaud Molin,Nicolas Gruchy,Aline Vincent-Devulder,Marta Spodenkiewicz,Clemence Jacquin,Gauthier Loron, Marie Thibaud,Geoffroy Delplancq,Sophie Brisset,Marion Lesieur-Sebellin,Valerie Malan,Serge Romana,Marlene Rio,Sandrine Marlin,Jeanne Amiel,Valentine Marquet,Benjamin Dauriat,Kamran Moradkhani,Sandra Mercier,Bertrand Isidor,Stephanie Arpin,Mathilde Pujalte,Guillaume Jedraszak,Celine Pebrel-Richard,Gaelle Salaun,Fanny Laffargue,John Boudjarane,Chantal Missirian,Nora Chelloug,Annick Toutain,Jean Chiesa,Boris Keren,Cyril Mignot,Evan Gouy,Sylvie Jaillard,Emilie Landais,Celine Poirsier
AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 7 (2024)
Load More
Author Statistics
#Papers: 390
#Citation: 20936
H-Index: 75
G-Index: 136
Sociability: 8
Diversity: 3
Activity: 59
Co-Author
Co-Institution
D-Core
- 合作者
- 学生
- 导师
Data Disclaimer
The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn