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N

Nicole de Leeuw

Department of Human Genetics
H指数:49
被引数:1.0万

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Novel variants in the SOX11 gene: clinical description of seven new patients
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-09-271
PRE
Schincariol-Manhe, Beatriz; Campagnolo, Erica; Spineli-Silva, Samira; de Leeuw, Nicole; Correia-Costa, Gabriela Roldao; Pessoa, Andre; de Souza, Carolina Fischinger Moura; Stevens, Cathy; Javaher, Poupak; Scallet, Helena Fabbri; Mohr, Julia; Biskup, Saskia; Herkert, Johanna C.; Pfundt, Rolph; Mehta, Lakshmi; Rekab, Aisha; Elloumi, Houda Zghal; Sanyoura, May; Maciel-Guerra, Andrea Trevas; Gil-da-Silva-Lopes, Vera Lucia; dos Santos, Ana Mondadori; Vieira, Tarsis Paiva
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

全面的EHMT1变异分析拓宽了Kleefstra综合征的基因型-表型关联和分子机制

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-08-018
PRE
Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J. M.; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W.; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; Calkoen, Rixje van Beeck; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W. E.; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M.; Bijlsma, Emilia K.; Hakonen, Anna H.; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L.; Welling, Lindsey; Plomp, Astrid S.; Vanhoutte, Els K.; Kalsner, Louisa; Hol, Janna A.; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, Andre; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Ozcan, Kubra; Miot, Stephanie; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L.; Muir, Alison M.; Sadikovic, Bekim; Brunner, Han G.; Vissers, Lisenka E. L. M.; Shinkai, Yoichi; Kleefstra, Tjitske
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals
NATURE MEDICINE
IF50
2024-05-141
PRE
Dingemans, Alexander J. M.; Jansen, Sandra; van Reeuwijk, Jeroen; de Leeuw, Nicole; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke; van Bon, Bregje W.; Marcelis, Carlo; Ockeloen, Charlotte W.; Willemsen, Marjolein; van der Sluijs, Pleuntje J.; Santen, Gijs W. E.; Kooy, R. Frank; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Koolen, David A.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.
De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops
JOURNAL OF MEDICAL GENETICS
IF3.7
2024-01-251
OA
de Koning, Maayke A.; Pimienta Ramirez, Paula A.; Haak, Monique C.; Han, Xiao; Ruiterkamp-Versteeg, Martina H. A.; de Leeuw, Nicole; Schatz, Ulrich A.; Shoukier, Moneef; Rieger-Fackeldey, Esther; Ortiz, Javier U.; van Duinen, Sjoerd G.; Klein, Willemijn M.; Witlox, Ruben S. G. M.; Finnell, Richard H.; Santen, Gijs W. E.; Lei, Yunping; Suerink, Manon
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance
GENETICS IN MEDICINE
IF6.2
2023-09-014
OAAI
Tooze, Rebecca S.; Miller, Kerry A.; Swagemakers, Sigrid M. A.; Calpena, Eduardo; McGowan, Simon J.; Boute, Odile; Collet, Corinne; Johnson, David; Laffargue, Fanny; de Leeuw, Nicole; Morton, Jenny V.; Noons, Peter; Ockeloen, Charlotte W.; Phipps, Julie M.; Tan, Tiong Yang; Timberlake, Andrew T.; Vanlerberghe, Clemence; Wall, Steven A.; Weber, Astrid; Wilson, Louise C.; Zackai, Elaine H.; Mathijssen, Irene M. J.; Twigg, Stephen R. F.; Wilkie, Andrew O. M.
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
NATURE GENETICS
IF31.8
2023-08-0716
OA
Dingemans, Alexander J. M.; Hinne, Max; Truijen, Kim M. G.; Goltstein, Lia; van Reeuwijk, Jeroen; de Leeuw, Nicole; Schuurs-Hoeijmakers, Janneke; Pfundt, Rolph; Diets, Illja J.; den Hoed, Joery; de Boer, Elke; van der Spek, Jet; Jansen, Sandra; van Bon, Bregje W.; Jonis, Noraly; Ockeloen, Charlotte W.; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Koolen, David A.; Campeau, Philippe M.; Palmer, Elizabeth E.; Van Esch, Hilde; Lyon, Gholson J.; Alkuraya, Fowzan S.; Rauch, Anita; Marom, Ronit; Baralle, Diana; van der Sluijs, Pleuntje J.; Santen, Gijs W. E.; Kooy, R. Frank; van Gerven, Marcel A. J.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2022-09-1642
OAAI
van der Sanden, Bart P. G. H.; Schobers, Gaby; Galbany, Jordi Corominas; Koolen, David A.; Sinnema, Margje; van Reeuwijk, Jeroen; Stumpel, Connie T. R. M.; Kleefstra, Tjitske; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; Leijsten, Nico; Kwint, Michael; Derks, Ronny; Swinkels, Hilde; den Ouden, Amber; Pfundt, Rolph; Rinne, Tuula; de Leeuw, Nicole; Stegmann, Alexander P.; Stevens, Servi J.; van den Wijngaard, Arthur; Brunner, Han G.; Yntema, Helger G.; Gilissen, Christian; Nelen, Marcel R.; Vissers, Lisenka E. L. M.
Recommendations for whole genome sequencing in diagnostics for rare diseases
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2022-05-1664
OAAI
Souche, Erika; Beltran, Sergi; Brosens, Erwin; Belmont, John W.; Fossum, Magdalena; Riess, Olaf; Gilissen, Christian; Ardeshirdavani, Amin; Houge, Gunnar; van Gijn, Marielle; Clayton-Smith, Jill; Synofzik, Matthis; de Leeuw, Nicole; Deans, Zandra C.; Dincer, Yasemin; Eck, Sebastian H.; van eer Crabben, Saskia; Balasubramanian, Meena; Graessner, Holm; Sturm, Marc; Firth, Helen; Ferlini, Alessandra; Nabbout, Rima; De Baere, Elfride; Liehr, Thomas; Macek, Milan; Matthijs, Gert; Scheffer, Hans; Bauer, Peter; Yntema, Helger G.; Weiss, Marjan M.
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders (vol 108, pg 1692, 2021)
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-11-011
OAAI
Stolz, Jacob R.; Foote, Kendall M.; Veenstra-Knol, Hermine E.; Pfundt, Rolph; ten Broeke, Sanne W.; de Leeuw, Nicole; Roht, Laura; Pajusalu, Sander; Part, Reelika; Rebane, Ionella; Ounap, Katrin; Stark, Zornitza; Kirk, Edwin P.; Lawson, John A.; Lunke, Sebastian; Christodoulou, John; Louie, Raymond J.; Rogers, R. Curtis; Davis, Jessica M.; Innes, A. Micheil; Wei, Xing-Chang; Keren, Boris; Mignot, Cyril; Lebel, Robert Roger; Sperber, Steven M.; Sakonju, Ai; Dosa, Nienke; Barge-Schaapveld, Daniela Q. C. M.; Peeters-Scholte, Cacha M. P. C. D.; Ruivenkamp, Claudia A. L.; van Bon, Bregje W.; Kennedy, Joanna; Low, Karen J.; Ellard, Sian; Pang, Lewis; Junewick, Joseph J.; Mark, Paul R.; Carvill, Gemma L.; Swanson, Geoffrey T.
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-09-0120
OAAI
Stolz, Jacob R.; Foote, Kendall M.; Veenstra-Knol, Hermine E.; Pfundt, Rolph; ten Broeke, Sanne W.; de Leeuw, Nicole; Roht, Laura; Pajusalu, Sander; Part, Reelika; Rebane, Ionella; Ounap, Katrin; Stark, Zornitza; Kirk, Edwin P.; Lawson, John A.; Lunke, Sebastian; Christodoulou, John; Louie, Raymond J.; Rogers, R. Curtis; Davis, Jessica M.; Innes, A. Micheil; Wei, Xing-Chang; Keren, Boris; Mignot, Cyril; Lebel, Robert Roger; Sperber, Steven M.; Sakonju, Ai; Dosa, Nienke; Barge-Schaapveld, Daniela Q. C. M.; Peeters-Scholte, Cacha M. P. C. D.; Ruivenkamp, Claudia A. L.; van Bon, Bregje W.; Kennedy, Joanna; Low, Karen J.; Ellard, Sian; Pang, Lewis; Junewick, Joseph J.; Mark, Paul R.; Carvill, Gemma L.; Swanson, Geoffrey T.

研究方向

暂未获取到该数据
R
Rolph Pfundt
H 指数:79论文数:378被引数:2.0万
B
Bert B.A. de Vries
H 指数:73论文数:287被引数:2.4万
B
Bregje W.M. van Bon
H 指数:54论文数:140被引数:1.3万
D
David A. Koolen
H 指数:51论文数:161被引数:1.0万
L
Lisenka E.L.M. Vissers
H 指数:75论文数:288被引数:2.3万
T
Tjitske Kleefstra
H 指数:73论文数:364被引数:1.9万
J
Jayne Y. Hehir‐Kwa
H 指数:46论文数:142被引数:7,852
J
Joris A. Veltman
H 指数:102论文数:405被引数:3.7万
H
Han G. Brunner
H 指数:103论文数:499被引数:5.0万
H
Helger G. Yntema
H 指数:64论文数:204被引数:1.6万