Kentistou, Katherine A.; Kaisinger, Lena R.; Stankovic, Stasa; Vaudel, Marc; de Oliveira, Edson Mendes; Messina, Andrea; Walters, Robin G.; Liu, Xiaoxi; Busch, Alexander S.; Helgason, Hannes; Thompson, Deborah J.; Santoni, Federico; Petricek, Konstantin M.; Zouaghi, Yassine; Huang-Doran, Isabel; Gudbjartsson, Daniel F.; Bratland, Eirik; Lin, Kuang; Gardner, Eugene J.; Zhao, Yajie; Jia, Raina Y.; Terao, Chikashi; Riggan, Marjorie J.; Bolla, Manjeet K.; Yazdanpanah, Mojgan; Yazdanpanah, Nahid; Bradfield, Jonathan P.; Broer, Linda; Campbell, Archie; Chasman, Daniel I.; Cousminer, Diana L.; Franceschini, Nora; Franke, Lude H.; Girotto, Giorgia; He, Chunyan; Jarvelin, Marjo-Riitta; Joshi, Peter K.; Kamatani, Yoichiro; Karlsson, Robert; Luan, Jian'an; Lunetta, Kathryn L.; Magi, Reedik; Mangino, Massimo; Medland, Sarah E.; Meisinger, Christa; Noordam, Raymond; Nutile, Teresa; Concas, Maria Pina; Polasek, Ozren; Porcu, Eleonora; Ring, Susan M.; Sala, Cinzia; Smith, Albert V.; Tanaka, Toshiko; Van der Most, Peter J.; Vitart, Veronique; Wang, Carol A.; Willemsen, Gonneke; Zygmunt, Marek; Ahearn, Thomas U.; Andrulis, Irene L.; Anton-Culver, Hoda; Antoniou, Antonis C.; Auer, Paul L.; Barnes, Catriona L. K.; Beckmann, Matthias W.; de Gonzalez, Amy Berrington; Bogdanova, Natalia V.; Bojesen, Stig E.; Brenner, Hermann; Buring, Julie E.; Canzian, Federico; Chang-Claude, Jenny; Couch, Fergus J.; Cox, Angela; Crisponi, Laura; Czene, Kamila; Daly, Mary B.; Demerath, Ellen W.; Dennis, Joe; Devilee, Peter; De Vivo, Immaculata; Doerk, Thilo; Dunning, Alison M.; Dwek, Miriam; Eriksson, Johan G.; Fasching, Peter A.; Fernandez-Rhodes, Lindsay; Ferreli, Liana; Fletcher, Olivia; Gago-Dominguez, Manuela; Garcia-Closas, Montserrat; Garcia-Saenz, Jose A.; Gonzalez-Neira, Anna; Grallert, Harald; Guenel, Pascal; Haiman, Christopher A.; Hall, Per; Hamann, Ute; Hakonarson, Hakon; Hart, Roger J.; Hickey, Martha; Hooning, Maartje J.; Hoppe, Reiner; Hopper, John L.; Hottenga, Jouke-Jan; Hu, Frank B.; Huebner, Hanna; Hunter, David J.; Jernstrom, Helena; John, Esther M.; Karasik, David; Khusnutdinova, Elza K.; Kristensen, Vessela N.; Lacey, James V.; Lambrechts, Diether; Launer, Lenore J.; Lind, Penelope A.; Lindblom, Annika; Magnusson, Patrik K. E.; Mannermaa, Arto; McCarthy, Mark I.; Meitinger, Thomas; Menni, Cristina; Michailidou, Kyriaki; Millwood, Iona Y.; Milne, Roger L.; Montgomery, Grant W.; Nevanlinna, Heli; Nolte, Ilja M.; Nyholt, Dale R.; Obi, Nadia; O'Brien, Katie M.; Offit, Kenneth; Oldehinkel, Albertine J.; Ostrowski, Sisse R.; Palotie, Aarno; Pedersen, Ole B.; Peters, Annette; Pianigiani, Giulia; Plaseska-Karanfilska, Dijana; Pouta, Anneli; Pozarickij, Alfred; Radice, Paolo; Rennert, Gad; Rosendaal, Frits R.; Ruggiero, Daniela; Saloustros, Emmanouil; Sandler, Dale P.; Schipf, Sabine; Schmidt, Carsten O.; Schmidt, Marjanka K.; Small, Kerrin; Spedicati, Beatrice; Stampfer, Meir; Stone, Jennifer; Tamimi, Rulla M.; Teras, Lauren R.; Tikkanen, Emmi; Turman, Constance; Vachon, Celine M.; Wang, Qin; Winqvist, Robert; Wolk, Alicja; Zemel, Babette S.; Zheng, Wei; van Dijk, Ko W.; Alizadeh, Behrooz Z.; Bandinelli, Stefania; Boerwinkle, Eric; Boomsma, Dorret I.; Ciullo, Marina; Chenevix-Trench, Georgia; Cucca, Francesco; Esko, Tonu; Gieger, Christian; Grant, Struan F. A.; Gudnason, Vilmundur; Hayward, Caroline; Kolcic, Ivana; Kraft, Peter; Lawlor, Deborah A.; Martin, Nicholas G.; Nohr, Ellen A.; Pedersen, Nancy L.; Pennell, Craig E.; Ridker, Paul M.; Robino, Antonietta; Snieder, Harold; Sovio, Ulla; Spector, Tim D.; Stockl, Doris; Sudlow, Cathie; Timpson, Nic J.; Toniolo, Daniela; Uitterlinden, Andre; Ulivi, Sheila; Volzke, Henry; Wareham, Nicholas J.; Widen, Elisabeth; Wilson, James F.; Pharoah, Paul D. P.; Li, Liming; Easton, Douglas F.; Njolstad, Pal R.; Sulem, Patrick; Murabito, Joanne M.; Murray, Anna; Manousaki, Despoina; Juul, Anders; Erikstrup, Christian; Stefansson, Kari; Horikoshi, Momoko; Chen, Zhengming; Farooqi, I. Sadaf; Pitteloud, Nelly; Johansson, Stefan; Day, Felix R.; Perry, John R. B.; Ong, Ken K.

NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice

SCIENCE TRANSLATIONAL MEDICINE

IF14.6

2022-10-0521

Chachlaki, Konstantina; Messina, Andrea; Delli, Virginia; Leysen, Valerie; Maurnyi, Csilla; Huber, Chieko; Ternier, Gaetan; Skrapits, Katalin; Papadakis, Georgios; Shruti, Sonal; Kapanidou, Maria; Cheng, Xu; Acierno, James; Rademaker, Jesse; Rasika, Sowmyalakshmi; Quinton, Richard; Niedziela, Marek; L'Allemand, Dagmar; Pignatelli, Duarte; Dirlewander, Mirjam; Lang-Muritano, Mariarosaria; Kempf, Patrick; Catteau-Jonard, Sophie; Niederlaender, Nicolas J.; Ciofi, Philippe; Tena-Sempere, Manuel; Garthwaite, John; Storme, Laurent; Avan, Paul; Hrabovszky, Erik; Carleton, Alan; Santoni, Federico; Giacobini, Paolo; Pitteloud, Nelly; Prevot, Vincent

Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity

SCIENTIFIC REPORTS

IF3.9

2022-08-152

OAAI

CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications

BRIEFINGS IN BIOINFORMATICS

IF7.7

2022-02-269

OAAI

GnRH replacement rescues cognition in Down syndrome

Science

IF45.8

2022-01-010

María Manfredi-Lozano; Valérie Leysen; Michela Adamo; Isabel Paiva; Renaud Rovera; Jean‐Michel Pignat; Fatima Ezzahra Timzoura; Michael Candlish; Sabiha Eddarkaoui; Samuel A. Malone; Mauro S. B. Silva; Sara Trova; Mónica Imbernón; Laurine Decoster; Ludovica Cotellessa; Manuel Tena‐Sempere; Marc Claret; Ariane Paoloni‐Giacobino; Damien Plassard; Emmanuelle Paccou; Nathalie Vionnet; James S. Acierno; Aleksandra Maleska Maceski; Antoine Lutti; Frank W. Pfrieger; Sowmyalakshmí Rasika; Federico Andrea Santoni; Ulrich Boehm; Philippe Ciofi; Luc Buée; Nasser Haddjeri; Anne‐Laurence Boutillier; Jens Kühle; Andrea Messina; Bogdan Draganski; Paolo Giacobini; Nelly Pitteloud; Vincent Prévot

Ablation of glucokinase-expressing tanycytes impacts energy balance and increases adiposity in mice

MOLECULAR METABOLISM

IF6.6

2021-11-0119

OAAI

Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome

差异表达的基因反映了转录组中疾病诱导的而不是疾病引起的变化

NATURE COMMUNICATIONS

IF15.7

2021-09-2460

OAAI

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

GENETICS IN MEDICINE

IF6.2

2021-07-017

OAAI

Polla, Daniel L.; Farazi Fard, Mohammad Ali; Tabatabaei, Zahra; Habibzadeh, Parham; Levchenko, Olga A.; Nikuei, Pooneh; Makrythanasis, Periklis; Hussain, Mureed; von Hardenberg, Sandra; Zeinali, Sirous; Fallah, Mohammad-Sadegh; Schuurs-Hoeijmakers, Janneke H. M.; Shahzad, Mohsin; Fatima, Fareeha; Fatima, Neelam; Kaat, Laura Donker; Bruggenwirth, Hennie T.; Fleming, Leah R.; Condie, John; Ploski, Rafal; Pollak, Agnieszka; Pilch, Jacek; Demina, Nina A.; Chukhrova, Alena L.; Sergeeva, Vasilina S.; Venselaar, Hanka; Masri, Amira T.; Hamamy, Hanan; Santoni, Federico A.; Linda, Katrin; Ahmed, Zubair M.; Nadif Kasri, Nael; de Brouwer, Arjan P. M.; Bergmann, Anke K.; Hethey, Sven; Yavarian, Majid; Ansar, Muhammad; Riazuddin, Saima; Riazuddin, Sheikh; Silawi, Mohammad; Ruggeri, Gaia; Pirozzi, Filomena; Eftekhar, Ebrahim; Taghipour Sheshdeh, Afsaneh; Bahramjahan, Shima; Mirzaa, Ghayda M.; Lavrov, Alexander V.; Antonarakis, Stylianos E.; Faghihi, Mohammad Ali; van Bokhoven, Hans

Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2

HUMAN MOLECULAR GENETICS

IF3.2

2021-03-099

OAAI

Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism

先天性低促性腺激素性性腺功能减退症的致病性镶嵌变体

GENETICS IN MEDICINE

IF6.2

2020-11-0111

OAAI

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-11-0123

OAAI

Guo, Hui; Zhang, Qiumeng; Dai, Rujia; Yu, Bin; Hoekzema, Kendra; Tan, Jieqiong; Tan, Senwei; Jia, Xiangbin; Chung, Wendy K.; Hernan, Rebecca; Alkuraya, Fowzan S.; Alsulaiman, Ahood; Al-Muhaizea, Mohammad A.; Lesca, Gaetan; Pons, Linda; Labalme, Audrey; Laux, Linda; Bryant, Emily; Brown, Natasha J.; Savva, Elena; Ayres, Samantha; Eratne, Dhamidhu; Peeters, Hilde; Bilan, Frederic; Letienne-Cejudo, Lucile; Gilbert-Dussardier, Brigitte; Ruiz-Arana, Inge-Lore; Merlini, Jenny Meylan; Boizot, Alexia; Bartoloni, Lucia; Santoni, Federico; Karlowicz, Danielle; McDonald, Marie; Wu, Huidan; Hu, Zhengmao; Chen, Guodong; Ou, Jianjun; Brasch-Andersen, Charlotte; Fagerberg, Christina R.; Dreyer, Inken; Tsai, Anne Chun-hui; Slegesky, Valerie; McGee, Rose B.; Daniels, Brina; Sellars, Elizabeth A.; Carpenter, Lori A.; Schaefer, Bradley; Sacoto, Maria J. Guillen; Begtrup, Amber; Schnur, Rhonda E.; Punj, Sumit; Wentzensen, Ingrid M.; Rhodes, Lindsay; Pan, Qian; Bernier, Raphael A.; Chen, Chao; Eichler, Evan E.; Xia, Kun

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-08-0144

OAAI

Manole, Andreea; Efthymiou, Stephanie; O'Connor, Emer; Mendes, Marisa, I; Jennings, Matthew; Maroofian, Reza; Davagnanam, Indran; Mankad, Kshitij; Lopez, Maria Rodriguez; Salpietro, Vincenzo; Harripaul, Ricardo; Badalato, Lauren; Walia, Jagdeep; Francklyn, Christopher S.; Athanasiou-Fragkouli, Alkyoni; Sullivan, Roisin; Desai, Sonal; Baranano, Kristin; Zafar, Faisal; Rana, Nuzhat; Ilyas, Muhammed; Horga, Alejandro; Kara, Majdi; Mattioli, Francesca; Goldenberg, Alice; Griffin, Helen; Piton, Amelie; Henderson, Lindsay B.; Kara, Benyekhlef; Aslanger, Ayca Dilruba; Raaphorst, Joost; Pfundt, Rolph; Portier, Ruben; Shinawi, Marwan; Kirby, Amelia; Christensen, Katherine M.; Wang, Lu; Rosti, Rasim O.; Paracha, Sohail A.; Sarwar, Muhammad T.; Jenkins, Dagan; Ahmed, Jawad; Santoni, Federico A.; Ranza, Emmanuelle; Iwaszkiewicz, Justyna; Cytrynbaum, Cheryl; Weksberg, Rosanna; Wentzensen, Ingrid M.; Sacoto, Maria J. Guillen; Si, Yue; Telegrafi, Aida; Andrews, Marisa, V; Baldridge, Dustin; Gabriel, Heinz; Mohr, Julia; Oehl-Jaschkowitz, Barbara; Debard, Sylvain; Senger, Bruno; Fischer, Frederic; van Ravenwaaij, Conny; Fock, Annemarie J. M.; Stevens, Servi J. C.; Bahler, Jurg; Nasar, Amina; Mantovani, John F.; Manzur, Adnan; Sarkozy, Anna; Smith, Desiree E. C.; Salomons, Gajja S.; Ahmed, Zubair M.; Riazuddin, Shaikh; Riazuddin, Saima; Usmani, Muhammad A.; Seibt, Annette; Ansar, Muhammad; Antonarakis, Stylianos E.; Vincent, John B.; Ayub, Muhammad; Grimmel, Mona; Jelsig, Anne Marie; Hjortshoj, Tina Duelund; Karstensen, Helena Gasdal; Hummel, Marybeth; Haack, Tobias B.; Jamshidi, Yalda; Distelmaier, Felix; Horvath, Rita; Gleeson, Joseph G.; Becker, Hubert; Mandel, Jean-Louis; Koolen, David A.; Houlden, Henry

Genetic variation near CXCL12 is associated with susceptibility to HIV-related non-Hodgkin lymphoma

HAEMATOLOGICA

IF7.9

2020-07-164

OAAI

Federico Santoni

个人简介

教育背景

工作经历

荣誉奖项

研究方向