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A

Annette Schenck

radboud university nijmegen
H指数:41
被引数:9,188

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Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features

导致ELAVL2单倍剂量不足的变异引起具有显著认知、行为和神经学特征的神经发育障碍

American Journal of Human Genetics
IF8.1
2026-09-010
PRE
Boon, Marina; Mulligan, Meghan R.; Verseput, Jolijn J. A.; Sakic, Barbara; Schreurs, Pleuni; Coll-Tane, Mireia; Accogli, Andrea; Alderman, Emily; Athey, Taryn; Boerkoel, Cornelius; Boni, Antonella; Caumes, Roseline; Gerkes, Erica; Haase, Sabine; Jaillard, Sylvie; Jeffries, Lauren; Kannu, Peter; Konstantino, Monica; Levy, Jonathan; Lokchine, Anna; Massink, Maarten; Samra, Nadra Nasser; Oegema, Renske; Scala, Marcello; Schieving, Jolanda; Schwartzmann, Sarina; Sczakiel, Henrike Lisa; Smol, Thomas; Striano, Pasquale; Verloes, Alain; Begtrup, Amber; Pfundt, Rolph; Franke, Barbara; Klein, Marieke; Schenck, Annette; Bicknell, Louise S.; de Vries, Bert B. A.
Pre-Pulse Inhibition of an escape response in adult fruit fly, Drosophila melanogaster

果蝇成虫中逃避反应的预脉冲抑制，Drosophila melanogaster

Translational Psychiatry
IF6.2
2026-01-080
OAAI
Erika Viragh; Lenke Asztalos; Michaela Fenckova; Tamas Szlanka; Zoltan Gyorgypal; Karoly Kovacs; Joanna IntHout; Pavel Cizek; Mihaly Konda; Emanuela Konda-Szucs; Agnes Zvara; Judit Biro; Eniko Csapo; Tamas Lukacsovich; Gabor Steinbach; Zoltan Hegedus; Laszlo Puskas; Annette Schenck; Zoltan Asztalos
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
GENETICS IN MEDICINE
IF6.2
2022-09-014
OAAI
Dias, Kerith-Rae; Carlston, Colleen M.; Blok, Laura E. R.; De Hayr, Lachlan; Nawaz, Urwah; Evans, Carey-Anne; Bayrak-Toydemir, Pinar; Htun, Stephanie; Zhu, Ying; Ma, Alan; Lynch, Sally Ann; Moorwood, Catherine; Stals, Karen; Ellard, Sian; Bainbridge, Matthew N.; Friedman, Jennifer; Pappas, John G.; Rabin, Rachel; Nowak, Catherine B.; Douglas, Jessica; Wilson, Theodore E.; Sacoto, Maria J. Guillen; Mullegama, Sureni, V; Palculict, Timothy Blake; Kirk, Edwin P.; Pinner, Jason R.; Edwards, Matthew; Montanari, Francesca; Graziano, Claudio; Pippucci, Tommaso; Dingmann, Bri; Glass, Ian; Mefford, Heather C.; Shimoji, Takeyoshi; Suzuki, Toshimitsu; Yamakawa, Kazuhiro; Streff, Haley; Schaaf, Christian P.; Slavotinek, Anne M.; Voineagu, Irina; Carey, John C.; Buckley, Michael F.; Schenck, Annette; Harvey, Robert J.; Roscioli, Tony
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-04-0120
OAAI
Stephenson, Sarah E. M.; Costain, Gregory; Blok, Laura E. R.; Silk, Michael A.; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E.; Dowling, James J.; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z.; Rodan, Lance H.; Schwartz, Marc A.; Picker, Jonathan; Lynch, Sally A.; Gupta, Aditi; Rasmussen, Kristen J.; Schimmenti, Lisa A.; Klee, Eric W.; Niu, Zhiyv; Agre, Katherine E.; Chilton, Ilana; Chung, Wendy K.; Revah-Politi, Anya; Au, P. Y. Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E.; Sapp, Katie; Willems, Marjolaine; Bruel, Angeline; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E. L.; Zhu, Ying; Baker, Joshua J.; Scheffer, Ingrid E.; Gardiner, Fiona J.; Schneider, Amy L.; Muir, Alison M.; Mefford, Heather C.; Crunk, Amy; Heise, Elizabeth M.; Millan, Francisca; Monaghan, Kristin G.; Person, Richard; Rhodes, Lindsay; Richards, Sarah; Wentzensen, Ingrid M.; Cogne, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Vincent, Marie; Besnard, Thomas; Piton, Amelie; Marcelis, Carlo; Kato, Kohji; Koyama, Norihisa; Ogi, Tomoo; Goh, Elaine Suk-Ying; Richmond, Christopher; Amor, David J.; Boyce, Jessica O.; Morgan, Angela T.; Hildebrand, Michael S.; Kaspi, Antony; Bahlo, Melanie; Fridriksdottir, Run; Katrinardottir, Hildigunnur; Sulem, Patrick; Stefansson, Kari; Bjornsson, Hans Tomas; Mandelstam, Simone; Morleo, Manuela; Mariani, Milena; Scala, Marcello; Accogli, Andrea; Torella, Annalaura; Capra, Valeria; Wallis, Mathew; Jansen, Sandra; Waisfisz, Quinten; de Haan, Hugoline; Sadedin, Simon; Lim, Sze Chern; White, Susan M.; Ascher, David B.; Schenck, Annette; Lockhart, Paul J.; Christodoulou, John; Tan, Tiong Yang
The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects
SCIENCE ADVANCES
IF12.5
2021-06-0423
OAAI
Coll-Tane, Mireia; Gong, Naihua N.; Belfer, Samuel J.; van Renssen, Lara, V; Kurtz-Nelson, Evangeline C.; Szuperak, Milan; Eidhof, Ilse; van Reijmersdal, Boyd; Terwindt, Isabel; Durkin, Jaclyn; Verheij, Michel M. M.; Kiln, Chang N.; Hudac, Caitlin M.; Nowakowski, Tomasz J.; Bernier, Raphael A.; Pillen, Sigrid; Earl, Rachel K.; Eichler, Evan E.; Kleefstra, Tjitske; Kayser, Matthew S.; Schenck, Annette
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia
BRAIN
IF11.7
2021-04-2323
OAAI
Rebelo, Adriana P.; Eidhof, Ilse; Cintra, Vivian P.; Guillot-Noel, Lena; Pereira, Claudia, V; Timmann, Dagmar; Traschutz, Andreas; Schols, Ludger; Coarelli, Giulia; Durr, Alexandra; Anheim, Mathieu; Tranchant, Christine; van de Warrenburg, Bart; Guissart, Claire; Koenig, Michel; Howell, Jack; Moraes, Carlos T.; Schenck, Annette; Stevanin, Giovanni; Zuechner, Stephan; Synofzik, Matthis

研究方向

暂未获取到该数据
M
Michaela Fencková
H 指数:16论文数:41被引数:2,111
M
Monique van der Voet
H 指数:19论文数:38被引数:1,203
A
Anna Castells‐Nobau
H 指数:20论文数:44被引数:1,909
J
Jamie M. Kramer
H 指数:31论文数:74被引数:4,013
B
Barbara Franke
H 指数:118论文数:979被引数:6.6万
H
Hans van Bokhoven
H 指数:97论文数:517被引数:2.9万
H 指数:0论文数:29被引数:0
I
Ilse Eidhof
H 指数:12论文数:45被引数:702
M
Marieke Klein
H 指数:36论文数:149被引数:7,665
C
Christiane Zweier
H 指数:59论文数:245被引数:1.2万