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L

Laura Donker Kaat

department of clinical genetics
H指数:24
被引数:2,303

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荣誉奖项

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Disclosure of onset-predictive biomarker results to research participants at risk of genetic frontotemporal dementia: a European perspective

向有遗传性额颞叶痴呆风险的受试者披露发病预测性生物标志物结果：欧洲视角

Alzheimer's Research & Therapy
IF7.6
2025-12-130
OAAI
Charlotte H. Graafland; Eline M. Bunnik; Barbara Borroni; Arabella Bouzigues; Sergi Borrego-Écija; Eino Solje; Caroline Graff; Jonathan D. Rohrer; John C. van Swieten; Laura Donker Kaat; Harro Seelaar
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making

Nanopore长读长测序技术应用于危重患者，可促进超快速诊断和紧急临床决策制定。

European Journal of Human Genetics
IF4.6
2025-10-200
OA
Daphne J. Smits; Federico Ferraro; Mark Drost; Herma C. van der Linde; Bianca M. de Graaf; Yolande van Bever; Alice S. Brooks; Livija Bardina; Hennie T. Brüggenwirth; Christophe Debuy; Laura Donker Kaat; Bastiaan T. van Dijk; Nienke van Engelen; Geert Geeven; Raoul van de Graaf; Désirée Y. van Haaften-Visser; Peter M. van Hasselt; Daphne Heijsman; Yvonne M. C. Hendriks; Rebekkah J. Hitti-Malin; Lies H. Hoefsloot; Glenn Huijbregts; Hanna IJspeert; Sander Lamballais; Jona Mijalkovic; Merel O. Mol; Diënna Nawawi; Nadine Nederpelt; Esther A. R. Nibbeling; Wouter te Rijdt; Rachel Schot; Marjon van Slegtenhorst; Frank Sleutels; Eva L. M. Ulenkate; Monique Van Veghel – Plandsoen; Judith M. A. Verhagen; David Vos; Erwin Wauters; Martina Wilke; Marc Sylva; Tahsin Stefan Barakat; Tjakko J. van Ham; Tjitske Kleefstra; Dmitrijs Rots; Virginie J. M. Verhoeven
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

常规基于RNA的分析潜在剪接变异体，促进了基因组诊断，并揭示了基于计算机预测工具的局限性。

Human Genetics and Genomics Advances
IF3.6
2025-09-220
PREAI
Mark Drost; Jordy Dekker; Federico Ferraro; Esmee Kasteleijn; Marije Verschuren; Evelien Kroon; Hannie C.W. Douben; Inte Vogt; Leontine van Unen; Marianne Hoogeveen-Westerveld; Peter Elfferich; Rachel Schot; Camilla Calandrini; Esther Korpershoek; Frank Sleutels; Hennie B.R. Brüggenwirth; Iris R. Hollink; Lisette Meerstein-Kessel; Lies H. Hoefsloot; Marjon van Slegtenhorst; Martina Wilke; Marjolein J.A. Weerts; Rick van Minkelen; Anja Wagner; Arjan Bouman; Barbara W. van Paassen; Grazia M. Verheijen-Mancini; Ingrid M.B.H.van de Laar; J.A. Kievit; Judith M.A. Verhagen; Kyra E. Stuurman; Laura Donker Kaat; Marieke F. van Dooren; Marja W. Wessels; Rogier A. Oldenburg; Shimriet Zeidler; Tessa van Dijk; T.Stefan Barakat; Virginie J.M. Verhoeven; Yolande van Bever; Yvette van Ierland; Natalja Bannink; Silvana van Koningsbruggen; Phillis Lakeman; Lisette Leeuwen; Nienke E. Verbeek; Margje Sinnema; Malou Heijligers; Christi J. van Asperen; Jasper J. Saris; Mark Nellist; Tjakko J. van Ham
Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders

靶向血浆蛋白质组学揭示了与KIF5A相关的SPG10和ALS谱系障碍相关的蛋白质

Human Genetics and Genomics Advances
IF3.6
2025-08-270
OAAI
Jarosław Dulski; Arun K. Boddapati; Barbara Risi; Pablo Iruzubieta; Antonio Orlacchio; Roberto Fernández-Torrón; Tamara Castillo-Triviño; Adolfo López de Munain; Steve Vucic; Alessandro Padovani; Laura Donker Kaat; Tahsin Stefan Barakat; Leonard Petrucelli; Mercedes Prudencio; John E. Landers; Jochen H. Weishaupt; Andreas Prokop; Massimiliano Filosto; Zbigniew K. Wszolek; Devesh C. Pant
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders

DNA甲基化特征在神经发育障碍常规诊断中的临床应用

European Journal of Human Genetics
IF4.6
2025-07-290
PRE
Daphne J. Smits; Christophe Debuy; Alice S. Brooks; Rachel Schot; Federico Ferraro; Dmitrijs Rots; Arjan Bouman; Virginie J. M. Verhoeven; Laura Donker Kaat; Sarina G. Kant; Yolande van Bever; Serwet Demirdas; Shimriet Zeidler; Marieke F. van Dooren; Stephany H. Donze; Lies H. Hoefsloot; Marjon A. van Slegtenhorst; Martina Wilke; Frank Sleutels; Mark Drost; Hennie T. Brüggenwirth; Rick van Minkelen; Anne Goverde; Janna A. Hol; Ingrid M. B. H. van de Laar; Yvette van Ierland; Anneke Kievit; Vyne van der Schoot; Kyra E. Stuurman; Grazia M. S. Mancini; Marja W. Wessels; Tjakko J. van Ham; Tjitske Kleefstra; Tahsin Stefan Barakat
Assessing the Big Five personality traits in presymptomatic and symptomatic C9orf72-related frontotemporal dementia using the Dutch Personality Inventory for DSM-5 (PID-5-NL)

使用荷兰人格问卷DSM-5（PID-5-NL）评估C9orf72相关额颞叶痴呆的亚临床症状和临床症状人群的大五人格特质

JOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
2025-06-010
PRE
Jiskoot, Lize C.; Gouw, Cornalijn; Coesmans, Michiel; Poos, Jackie M.; Swartenbroekx, Tine; de Houwer, Julie; Dopper, Elise G. P.; Kaat, Laura Donker; Boesjes, Pam; de Boer, Liset; van den Berg, Esther; Seelaar, Harro
UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia
ANNALS OF NEUROLOGY
IF7.7
2025-04-010
OAAI
Reus, Lianne M.; Willemse, Sean W.; de Boer, Sterre C. M.; De Houwer, Julie; Hartog, Willem L.; Mol, Merel O.; van Rooij, Jeroen G. J.; Tesi, Niccolo; Donker Kaat, Laura; Hulsman, Marc; Vijverberg, Everard G. B.; Holstege, Henne; van Rheenen, Wouter; Veldink, Jan H.; van den Berg, Leonard H.; van Swieten, John C.; Seelaar, H.; van der Lee, Sven J.; van Es, Michael A.; Pijnenburg, Yolande A. L.
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy (vol 19, 61, 2024)
MOLECULAR NEURODEGENERATION
IF17.5
2024-10-140
OAAI
Wang, Hui; Chang, Timothy S.; Dombroski, Beth A.; Cheng, Po-Liang; Patil, Vishakha; Valiente-Banuet, Leopoldo; Farrell, Kurt; Mclean, Catriona; Molina-Porcel, Laura; Rajput, Alex; De Deyn, Peter Paul; Le Bastard, Nathalie; Gearing, Marla; Kaat, Laura Donker; Van Swieten, John C.; Dopper, Elise; Ghetti, Bernardino F.; Newell, Kathy L.; Troakes, Claire; de Yebenes, Justo G.; Rabano-Gutierrez, Alberto; Meller, Tina; Oertel, Wolfgang H.; Respondek, Gesine; Stamelou, Maria; Arzberger, Thomas; Roeber, Sigrun; Mueller, Ulrich; Hopfner, Franziska; Pastor, Pau; Brice, Alexis; Durr, Alexandra; Le Ber, Isabelle; Beach, Thomas G.; Serrano, Geidy E.; Hazrati, Lili-Naz; Litvan, Irene; Rademakers, Rosa; Ross, Owen A.; Galasko, Douglas; Boxer, Adam L.; Miller, Bruce L.; Seeley, Willian W.; Van Deerlin, Vivanna M.; Lee, Edward B.; White III, Charles L.; Morris, Huw; de Silva, Rohan; Crary, John F.; Goate, Alison M.; Friedman, Jeffrey S.; Leung, Yuk Yee; Coppola, Giovanni; Naj, Adam C.; Wang, Li-San; Dalgard, Clifton; Dickson, Dennis W.; Hoeglinger, Guenter U.; Schellenberg, Gerard D.; Geschwind, Daniel H.; Lee, Wan-Ping
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy
MOLECULAR NEURODEGENERATION
IF17.5
2024-08-162
OAAI
Wang, Hui; Chang, Timothy S.; Dombroski, Beth A.; Cheng, Po-Liang; Patil, Vishakha; Valiente-Banuet, Leopoldo; Farrell, Kurt; Mclean, Catriona; Molina-Porcel, Laura; Rajput, Alex; De Deyn, Peter Paul; Le Bastard, Nathalie; Gearing, Marla; Kaat, Laura Donker; Van Swieten, John C.; Dopper, Elise; Ghetti, Bernardino F.; Newell, Kathy L.; Troakes, Claire; de Yebenes, Justo G.; Rabano-Gutierrez, Alberto; Meller, Tina; Oertel, Wolfgang H.; Respondek, Gesine; Stamelou, Maria; Arzberger, Thomas; Roeber, Sigrun; Mueller, Ulrich; Hopfner, Franziska; Pastor, Pau; Brice, Alexis; Durr, Alexandra; Le Ber, Isabelle; Beach, Thomas G.; Serrano, Geidy E.; Hazrati, Lili-Naz; Litvan, Irene; Rademakers, Rosa; Ross, Owen A.; Galasko, Douglas; Boxer, Adam L.; Miller, Bruce L.; Seeley, Willian W.; Van Deerlin, Vivanna M.; Lee, Edward B.; White III, Charles L.; Morris, Huw; de Silva, Rohan; Crary, John F.; Goate, Alison M.; Friedman, Jeffrey S.; Leung, Yuk Yee; Coppola, Giovanni; Naj, Adam C.; Wang, Li-San; Dalgard, Clifton; Dickson, Dennis W.; Hoeglinger, Guenter U.; Schellenberg, Gerard D.; Geschwind, Daniel H.; Lee, Wan-Ping
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in rare diseases
GENETICS IN MEDICINE
IF6.2
2024-05-0112
PRE
Kerkhof, Jennifer; Rastin, Cassandra; Levy, Michael A.; Relator, Raissa; McConkey, Haley; Demain, Leigh; Dominguez-Garrido, Elena; Kaat, Laura Donker; Houge, Sofia Douzgo; DuPont, Barbara R.; Fee, Timothy; Fletcher, Robin S.; Gokhale, David; Haukanes, Bjorn Ivar; Henneman, Peter; Hilton, Sarah; Hilton, Benjamin A.; Jenkinson, Sarah; Lee, Jennifer A.; Louie, Raymond J.; Motazacker, M. Mahdi; Rzasa, Jessica; Stevenson, Roger E.; Plomp, Astrid; van der Laan, Liselot; van der Smagt, Jasper; Walden, Kellie K.; Banka, Siddharth; Mannens, Marcel; Skinner, Steven A.; Friez, Michael J.; Campbell, Christopher; Tedder, Matthew L.; Alders, Marielle; Sadikovic, Bekim
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
BRAIN
IF11.7
2023-09-153
PRE
Almousa, Hashem; Lewis, Sara A.; Bakhtiari, Somayeh; Nordlie, Sandra Hinz; Pagnozzi, Alex; Magee, Helen; Efthymiou, Stephanie; Heim, Jennifer A.; Cornejo, Patricia; Zaki, Maha S.; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Neilson, Derek E.; Vemuri, Anusha; Jin, Sheng Chih; Yang, Xiao-Ru; Heidari, Abolfazl; van Gassen, Koen; Trimouille, Aurelien; Thauvin-Robinet, Christel; Liu, James; Bruel, Ange-Line; Tomoum, Hoda; Shata, Mennatallah O.; Hashem, Mais O.; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Yesil, Gozde; Lingappa, Lokesh; Baruah, Debangana; Ebrahimzadeh, Farnoosh; Van-Gils, Julien; Faivre, Laurence; Zamani, Mina; Galehdari, Hamid; Sadeghian, Saeid; Shariati, Gholamreza; Mohammad, Rahema; van der Smagt, Jasper; Qari, Alya; Vincent, John B.; Innes, A. Micheil; Dursun, Ali; Ozgul, R. Koksal; Akar, Halil Tuna; Bilguvar, Kaya; Mignot, Cyril; Keren, Boris; Raveli, Claudia; Burglen, Lydie; Afenjar, Alexandra; Kaat, Laura Donker; van Slegtenhorst, Marjon; Alkuraya, Fowzan; Houlden, Henry; Padilla-Lopez, Sergio; Maroofian, Reza; Sacher, Michael; Kruer, Michael C.
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency
GENETICS IN MEDICINE
IF6.2
2023-01-017
OAAI
Spek, Jet Coenen-van der; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael A.; Tedder, Matthew L.; Louie, Raymond J.; Fletcher, Robin S.; Moore, Hannah W.; Childers, Anna; Farrelly, Ellyn R.; Champaigne, Neena L.; Lyons, Michael J.; Everman, David B.; Rogers, R. Curtis; Skinner, Steven A.; Renck, Alicia; Matalon, Dena R.; Dills, Shelley K.; Monteleone, Berrin; Demirdas, Serwet; Dingemans, Alexander J. M.; Kaat, Laura Donker; Kolk, Sharon M.; Pfundt, Rolph; Rump, Patrick; Sadikovic, Bekim; Kleefstra, Tjitske; Butler, Kameryn M.
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

研究方向

暂未获取到该数据
J
John C. van Swieten
H 指数:100论文数:646被引数:6.3万
H
Harro Seelaar
H 指数:43论文数:281被引数:1.7万
L
Lize C. Jiskoot
H 指数:43论文数:230被引数:8,932
L
Lieke Meeter
H 指数:38论文数:83被引数:5,063
Y
Yolande A.L. Pijnenburg
H 指数:82论文数:779被引数:3.1万
R
Rick van Minkelen
H 指数:40论文数:127被引数:5,364
M
Merel O. Mol
H 指数:18论文数:66被引数:4,021
E
Elise G.P. Dopper
H 指数:38论文数:133被引数:1.1万
J
Jonathan D. Rohrer
H 指数:89论文数:696被引数:4.0万
A
Agnita J.W. Boon
H 指数:27论文数:82被引数:2,994