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G

Gijs van Haaften

centre national de la recherche scientifique (cnrs)
H指数:45
被引数:6,575

个人简介

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教育背景

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工作经历

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荣誉奖项

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A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling

脊髓性肌萎缩症的从头删除: 对携带者检测和遗传咨询的影响

HUMAN MOLECULAR GENETICS
IF3.2
2025-03-010
OAAI
Zwartkruis, Maria M.; de Pagter, Mirjam S.; Gommers, Demi; Koopmans, Marije; Ottenheim, Cecile P. E.; Kortooms, Joris, V; Albring, Mirjan; Elferink, Martin G.; Wadman, Renske, I; Asselman, Fay-Lynn; Cuppen, Inge; van der Pol, W. Ludo; Nelen, Marcel R.; van Haaften, Gijs W.; Groen, Ewout J. N.
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
BRAIN
IF11.7
2024-01-135
OAAI
Efthymiou, Stephanie; Scala, Marcello; Nagaraj, Vini; Ochenkowska, Katarzyna; Komdeur, Fenne L.; Liang, Robin A.; Abdel-Hamid, Mohamed S.; Sultan, Tipu; Baroy, Tuva; Van Ghelue, Marijke; Vona, Barbara; Maroofian, Reza; Zafar, Faisal; Alkuraya, Fowzan S.; Zaki, Maha S.; Severino, Mariasavina; Duru, Kingsley C.; Tryon, Robert C.; Brauteset, Lin Vigdis; Ansari, Morad; Hamilton, Mark; van Haelst, Mieke M.; van Haaften, Gijs; Zara, Federico; Houlden, Henry; Samarut, Eric; Nichols, Colin G.; Smeland, Marie F.; Mcclenaghan, Conor
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

剪接体功能异常导致具有重叠特征的神经发育障碍

JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2024-01-026
OAAI
Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-04-0114
OAAI
Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs
ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
NATURE COMMUNICATIONS
IF15.7
2019-10-0137
OAAI
Smeland, Marie F.; McClenaghan, Conor; Roessler, Helen I.; Savelberg, Sanne; Hansen, Geir Asmund Myge; Hjellnes, Helene; Arntzen, Kjell Arne; Mueller, Kai Ivar; Dybesland, Andreas Rosenberger; Harter, Theresa; Sala-Rabanal, Monica; Emfinger, Chris H.; Huang, Yan; Singareddy, Soma S.; Gunn, Jamie; Wozniak, David F.; Kovacs, Attila; Massink, Maarten; Tessadori, Federico; Kamel, Sarah M.; Bakkers, Jeroen; Remedi, Maria S.; Van Ghelue, Marijke; Nichols, Colin G.; van Haaften, Gijs
Identification of human D lactate dehydrogenase deficiency

人D-乳酸脱氢酶缺乏症的鉴定

NATURE COMMUNICATIONS
IF15.7
2019-04-0160
OAAI
Monroe, Glen R.; van Eerde, Albertien M.; Tessadori, Federico; Duran, Karen J.; Savelberg, Sanne M. C.; van Alfen, Johanna C.; Terhal, Paulien A.; van der Crabben, Saskia N.; Lichtenbelt, Klaske D.; Fuchs, Sabine A.; Gerrits, Johan; van Roosmalen, Markus J.; van Gassen, Koen L.; van Aalderen, Mirjam; Koot, Bart G.; Oostendorp, Marlies; Duran, Marinus; Visser, Gepke; de Koning, Tom J.; Cali, Francesco; Bosco, Paolo; Geleijns, Karin; de Sain-van der Velden, Monique G. M.; Knoers, Nine, V; Bakkers, Jeroen; Verhoeven-Duif, Nanda M.; van Haaften, Gijs; Jans, Judith J.

研究方向

暂未获取到该数据
K
Karen Duran
H 指数:33论文数:81被引数:3,365
M
Mieke M. van Haelst
H 指数:48论文数:210被引数:8,529
G
Glen R. Monroe
H 指数:22论文数:57被引数:2,056
F
Federico Tessadori
H 指数:30论文数:66被引数:3,214
J
Jeroen Bakkers
H 指数:55论文数:179被引数:9,865
S
Sanne M. C. Savelberg
H 指数:13论文数:18被引数:827
P
Peter M. van Hasselt
H 指数:46论文数:185被引数:5,599
N
Nine Knoers
H 指数:47论文数:166被引数:6,570
I
Isaäc J. Nijman
H 指数:50论文数:139被引数:1.4万
C
Colin G. Nichols
H 指数:77论文数:494被引数:2.4万