logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
J

Jamie M. Kramer

Dalhousie University
H指数:31
被引数:4,013

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B相关的神经发育障碍的临床与分子谱

The American Journal of Human Genetics
IF0
2025-10-180
PRE
Dmitrijs Rots; Taryn E. Jakub; Crystal Keung; Adam Jackson; Siddharth Banka; Rolph Pfundt; Bert B.A. de Vries; Richard H. van Jaarsveld; Saskia M.J. Hopman; Ellen van Binsbergen; Irene Valenzuela; Maja Hempel; Tatjana Bierhals; Fanny Kortüm; Francois Lecoquierre; Alice Goldenberg; Jens Michael Hertz; Charlotte Brasch Andersen; Maria Kibæk; Eloise J. Prijoles; Roger E. Stevenson; David B. Everman; Wesley G. Patterson; Linyan Meng; Charul Gijavanekar; Karl De Dios; Shenela Lakhani; Tess Levy; Matias Wagner; Dagmar Wieczorek; Paul J. Benke; María Soledad Lopez Garcia; Renee Perrier; Sergio B. Sousa; Pedro M. Almeida; Maria José Simões; Bertrand Isidor; Wallid Deb; Andrew A. Schmanski; Omar Abdul-Rahman; Christophe Philippe; Ange-Line Bruel; Laurence Faivre; Antonio Vitobello; Christel Thauvin; Jeroen J. Smits; Livia Garavelli; Stefano G. Caraffi; Francesca Peluso; Laura Davis-Keppen; Dylan Platt; Erin Royer; Lisette Leeuwen; Margje Sinnema; Alexander P.A. Stegmann; Constance T.R.M. Stumpel; George E. Tiller; Daniëlle G.M. Bosch; Stephanus T. Potgieter; Shelagh Joss; Miranda Splitt; Simon Holden; Matina Prapa; Nicola Foulds; Sofia Douzgou; Kaija Puura; Regina Waltes; Andreas G. Chiocchetti; Christine M. Freitag; F. Kyle Satterstrom; Silvia De Rubeis; Joseph Buxbaum; Bruce D. Gelb; Aleksic Branko; Itaru Kushima; Jennifer Howe; Stephen W. Scherer; Alessia Arado; Chiara Baldo; Olivier Patat; Demeer Bénédicte; Diego Lopergolo; Filippo M. Santorelli; Tobias B. Haack; Andreas Dufke; Miriam Bertrand; Ruth J. Falb; Angelika Rieß; Peter Krieg; Stephanie Spranger; Maria Francesca Bedeschi; Maria Iascone; Sarah Josephi-Taylor; Tony Roscioli; Michael F. Buckley; Jan Liebelt; Aditi I. Dagli; Emmelien Aten; Anna C.E. Hurst; Alesha Hicks; Mohnish Suri; Ermal Aliu; Sunil Naik; Richard Sidlow; Juliette Coursimault; Gaël Nicolas; Hanna Küpper; Florence Petit; Veyan Ibrahim; Deniz Top; Francesca Di Cara; Raymond J. Louie; Elliot Stolerman; Han G. Brunner; Lisenka E.L.M. Vissers; Jamie M. Kramer; Tjitske Kleefstra
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B-related神经发育障碍的临床和分子谱

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-06-0111
OAAI
Rots, Dmitrijs; Jakub, Taryn E.; Keung, Crystal; Lisenka, Vissers E. L. M.; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B. A.; van Jaarsveld, Richard H.; Hopman, Saskia M. J.; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortuem, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibaek, Maria; Prijoles, Eloise J.; Stevenson, Roger E.; Everman, David B.; Patterson, Wesley G.; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J.; Garcia, Maria Soledad Lopez; Perrier, Renee; Sousa, Sergio B.; Almeida, Pedro M.; Simoes, Maria Jose; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A.; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J.; Garavelli, Livia; Caraffi, Stefano G.; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tiller, George E.; Bosch, Danielle G. M.; Potgieter, Stephanus T.; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G.; Freitag, Christine M.; Satterstrom, F. Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D.; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W.; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Benedicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M.; Haack, Tobias B.; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J.; Riess, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F.; Liebelt, Jan; Dagli, Aditi I.; Aten, Emmelien; Hurst, Anna C. E.; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gael; Kuepper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J.; Stolerman, Elliot; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kramer, Jamie M.; Kleefstra, Tjitske
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2023-01-017
OAAI
Blok, Lot Snijders; Verseput, Jolijn; Rots, Dmitrijs; Venselaar, Hanka; Innes, A. Micheil; Stumpel, Connie; Ounap, Katrin; Reinson, Karit; Seaby, Eleanor G.; McKee, Shane; Burton, Barbara; Kim, Katherine; van Hagen, Johanna M.; Waisfisz, Quinten; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Li, Dong; Zackai, Elaine H.; Sheppard, Sarah E.; Keena, Beth; Hakonarson, Hakon; Roos, Andreas; Kohlschmidt, Nicolai; Cereda, Anna; Iascone, Maria; Rebessi, Erika; Kernohan, Kristin D.; Campeau, Philippe M.; Millan, Francisca; Taylor, Jesse A.; Lochmuller, Hanns; Higgs, Martin R.; Goula, Amalia; Bernhard, Birgitta; Velasco, Danita J.; Schmanski, Andrew A.; Stark, Zornitza; Gallacher, Lyndon; Pais, Lynn; Marcogliese, Paul C.; Yamamoto, Shinya; Raun, Nicholas; Jakub, Taryn E.; Kramer, Jamie M.; den Hoed, Joery; Fisher, Simon E.; Brunner, Han G.; Kleefstra, Tjitske
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

人类和果蝇中SETD1A单倍功能不全的表征定义了一种新的神经发育综合征

MOLECULAR PSYCHIATRY
IF10.1
2020-04-2847
OAAI
Kummeling, Joost; Stremmelaar, Diante E.; Raun, Nicholas; Reijnders, Margot R. F.; Willemsen, Marjolein H.; Ruiterkamp-Versteeg, Martina; Schepens, Marga; Man, Calvin C. O.; Gilissen, Christian; Cho, Megan T.; McWalter, Kirsty; Sinnema, Margje; Wheless, James W.; Simon, Marleen E. H.; Genetti, Casie A.; Casey, Alicia M.; Terhal, Paulien A.; van Der Smagt, Jasper J.; van Gassen, Koen L., I; Joset, Pascal; Bahr, Angela; Steindl, Katharina; Rauch, Anita; Keller, Elmar; Raas-Rothschild, Annick; Koolen, David A.; Agrawal, Pankaj B.; Hoffman, Trevor L.; Powell-Hamilton, Nina N.; Thiffault, Isabelle; Engleman, Kendra; Zhou, Dihong; Bodamer, Olaf; Hoefele, Julia; Riedhammer, Korbinian M.; Schwaibold, Eva M. C.; Tasic, Velibor; Schubert, Dirk; Top, Deniz; Pfundt, Rolph; Higgs, Martin R.; Kramer, Jamie M.; Kleefstra, Tjitske
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2019-04-0141
OAAI
Nixon, Kevin C. J.; Rousseau, Justine; Stone, Max H.; Sarikahya, Mohammed; Ehresmann, Sophie; Mizuno, Seiji; Matsumoto, Naomichi; Miyake, Noriko; Baralle, Diana; McKee, Shane; Izumi, Kosuke; Ritter, Alyssa L.; Heide, Solveig; Heron, Delphine; Depienne, Christel; Titheradge, Hannah; Kramer, Jamie M.; Campeau, Philippe M.
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder
PLOS GENETICS
IF3.7
2017-10-25121
OAAI
Koemans, Tom S.; Kleefstra, Tjitske; Chubak, Melissa C.; Stone, Max H.; Reijnders, Margot R. F.; de Munnik, Sonja; Willemsen, Marjolein H.; Fenckova, Michaela; Stumpel, Connie T. R. M.; Bok, Levinus A.; Saenz, Margarita Sifuentes; Byerly, Kyna A.; Baughn, Linda B.; Stegmann, Alexander P. A.; Pfundt, Rolph; Zhou, Huiqing; van Bokhoven, Hans; Schenck, Annette; Kramer, Jamie M.
Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy
HUMAN MOLECULAR GENETICS
IF3.2
2017-08-1633
OAAI
Farhan, Sali M. K.; Nixon, Kevin C. J.; Everest, Michelle; Edwards, Tara N.; Long, Shirley; Segal, Dmitri; Knip, Maria J.; Arts, Heleen H.; Chakrabarti, Rana; Wang, Jian; Robinson, John F.; Lee, Donald; Mirsattari, Seyed M.; Rupar, C. Anthony; Siu, Victoria M.; Poulter, Michael O.; Hegele, Robert A.; Kramer, Jamie M.
Conditional depletion of intellectual disability and Parkinsonism candidate geneATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration
HUMAN MOLECULAR GENETICS
IF3.2
2015-09-1657
OAAI
Dubos, Aline; Castells-Nobau, Anna; Meziane, Hamid; Oortveld, Merel A. W.; Houbaert, Xander; Iacono, Giovanni; Martin, Christelle; Mittelhaeuser, Christophe; Lalanne, Valerie; Kramer, Jamie M.; Bhukel, Anuradha; Quentin, Christine; Slabbert, Jan; Verstreken, Patrik; Sigrist, Stefan J.; Messaddeq, Nadia; Birling, Marie-Christine; Selloum, Mohammed; Stunnenberg, Henk G.; Humeau, Yann; Schenck, Annette; Herault, Yann
CEP89 is required for mitochondrial metabolism and neuronal function in man and fly
HUMAN MOLECULAR GENETICS
IF3.2
2013-04-1035
OAAI
van Bon, Bregje W. M.; Oortveld, Merel A. W.; Nijtmans, Leo G.; Fenckova, Michaela; Nijhof, Bonnie; Besseling, Judith; Vos, Melissa; Kramer, Jamie M.; de Leeuw, Nicole; Castells-Nobau, Anna; Asztalos, Lenke; Viragh, Erika; Ruiter, Mariken; Hofmann, Falko; Eshuis, Lillian; Collavin, Licio; Huynen, Martijn A.; Asztalos, Zoltan; Verstreken, Patrik; Rodenburg, Richard J.; Smeitink, Jan A.; de Vries, Bert B. A.; Schenck, Annette
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders
HUMAN MOLECULAR GENETICS
IF3.2
2013-02-05145
OA
Iqbal, Zafar; Vandeweyer, Geert; van der Voet, Monique; Waryah, Ali Muhammad; Zahoor, Muhammad Yasir; Besseling, Judith A.; Roca, Laura Tomas; Vulto-van Silfhout, Anneke T.; Nijhof, Bonnie; Kramer, Jamie M.; Van der Aa, Nathalie; Ansar, Muhammad; Peeters, Hilde; Helsmoortel, Celine; Gilissen, Christian; Vissers, Lisenka E. L. M.; Veltman, Joris A.; de Brouwer, Arjan P. M.; Kooy, R. Frank; Riazuddin, Sheikh; Schenck, Annette; van Bokhoven, Hans; Rooms, Liesbeth

研究方向

暂未获取到该数据
A
Annette Schenck
H 指数:41论文数:121被引数:9,188
T
Tjitske Kleefstra
H 指数:73论文数:364被引数:1.9万
H
Hans van Bokhoven
H 指数:97论文数:517被引数:2.9万
N
Nicholas Raun
H 指数:6论文数:14被引数:184
L
Lisenka E.L.M. Vissers
H 指数:75论文数:288被引数:2.3万
M
Michaela Fencková
H 指数:16论文数:41被引数:2,111
D
Deniz Top
H 指数:18论文数:31被引数:1,417
S
Spencer Jones
H 指数:7论文数:94被引数:173
K
Kevin C. Nixon
H 指数:52论文数:166被引数:1.8万
R
Rolph Pfundt
H 指数:79论文数:378被引数:2.0万