Search | VHL CLAP/WR-PAHO/WHO

1.

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Yamamoto, Shinya; Jaiswal, Manish; Charng, Wu-Lin; Gambin, Tomasz; Karaca, Ender; Mirzaa, Ghayda; Wiszniewski, Wojciech; Sandoval, Hector; Haelterman, Nele A; Xiong, Bo; Zhang, Ke; Bayat, Vafa; David, Gabriela; Li, Tongchao; Chen, Kuchuan; Gala, Upasana; Harel, Tamar; Pehlivan, Davut; Penney, Samantha; Vissers, Lisenka E L M; de Ligt, Joep; Jhangiani, Shalini N; Xie, Yajing; Tsang, Stephen H; Parman, Yesim; Sivaci, Merve; Battaloglu, Esra; Muzny, Donna; Wan, Ying-Wooi; Liu, Zhandong; Lin-Moore, Alexander T; Clark, Robin D; Curry, Cynthia J; Link, Nichole; Schulze, Karen L; Boerwinkle, Eric; Dobyns, William B; Allikmets, Rando; Gibbs, Richard A; Chen, Rui; Lupski, James R; Wangler, Michael F; Bellen, Hugo J.

Cell ; 159(1): 200-214, 2014 Sep 25.

Article in English | MEDLINE | ID: mdl-25259927

2.

Disruptive CHD8 mutations define a subtype of autism early in development.

Bernier, Raphael; Golzio, Christelle; Xiong, Bo; Stessman, Holly A; Coe, Bradley P; Penn, Osnat; Witherspoon, Kali; Gerdts, Jennifer; Baker, Carl; Vulto-van Silfhout, Anneke T; Schuurs-Hoeijmakers, Janneke H; Fichera, Marco; Bosco, Paolo; Buono, Serafino; Alberti, Antonino; Failla, Pinella; Peeters, Hilde; Steyaert, Jean; Vissers, Lisenka E L M; Francescatto, Ludmila; Mefford, Heather C; Rosenfeld, Jill A; Bakken, Trygve; O'Roak, Brian J; Pawlus, Matthew; Moon, Randall; Shendure, Jay; Amaral, David G; Lein, Ed; Rankin, Julia; Romano, Corrado; de Vries, Bert B A; Katsanis, Nicholas; Eichler, Evan E.

Cell ; 158(2): 263-276, 2014 Jul 17.

Article in English | MEDLINE | ID: mdl-24998929

3.

De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders.

Wiel, Laurens; Hampstead, Juliet E; Venselaar, Hanka; Vissers, Lisenka E L M; Brunner, Han G; Pfundt, Rolph; Vriend, Gerrit; Veltman, Joris A; Gilissen, Christian.

Am J Hum Genet ; 110(1): 92-104, 2023 01 05.

Article in English | MEDLINE | ID: mdl-36563679

4.

Evidence for 28 genetic disorders discovered by combining healthcare and research data.

Kaplanis, Joanna; Samocha, Kaitlin E; Wiel, Laurens; Zhang, Zhancheng; Arvai, Kevin J; Eberhardt, Ruth Y; Gallone, Giuseppe; Lelieveld, Stefan H; Martin, Hilary C; McRae, Jeremy F; Short, Patrick J; Torene, Rebecca I; de Boer, Elke; Danecek, Petr; Gardner, Eugene J; Huang, Ni; Lord, Jenny; Martincorena, Iñigo; Pfundt, Rolph; Reijnders, Margot R F; Yeung, Alison; Yntema, Helger G; Vissers, Lisenka E L M; Juusola, Jane; Wright, Caroline F; Brunner, Han G; Firth, Helen V; FitzPatrick, David R; Barrett, Jeffrey C; Hurles, Matthew E; Gilissen, Christian; Retterer, Kyle.

Nature ; 586(7831): 757-762, 2020 10.

Article in English | MEDLINE | ID: mdl-33057194

5.

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.

Motta, Marialetizia; Fasano, Giulia; Gredy, Sina; Brinkmann, Julia; Bonnard, Adeline Alice; Simsek-Kiper, Pelin Ozlem; Gulec, Elif Yilmaz; Essaddam, Leila; Utine, Gulen Eda; Guarnetti Prandi, Ingrid; Venditti, Martina; Pantaleoni, Francesca; Radio, Francesca Clementina; Ciolfi, Andrea; Petrini, Stefania; Consoli, Federica; Vignal, Cédric; Hepbasli, Denis; Ullrich, Melanie; de Boer, Elke; Vissers, Lisenka E L M; Gritli, Sami; Rossi, Cesare; De Luca, Alessandro; Ben Becher, Saayda; Gelb, Bruce D; Dallapiccola, Bruno; Lauri, Antonella; Chillemi, Giovanni; Schuh, Kai; Cavé, Hélène; Zenker, Martin; Tartaglia, Marco.

Am J Hum Genet ; 108(11): 2112-2129, 2021 11 04.

Article in English | MEDLINE | ID: mdl-34626534

6.

DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.

van der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Lauffer, Peter; McConkey, Haley; Caro, Pilar; Relator, Raissa; Levy, Michael A; Bhai, Pratibha; Mignot, Cyril; Keren, Boris; Briuglia, Silvana; Sobering, Andrew K; Li, Dong; Vissers, Lisenka E L M; Dingemans, Alexander J M; Valenzuela, Irene; Verberne, Eline A; Misra-Isrie, Mala; Zwijnenburg, Petra J G; Waisfisz, Quinten; Alders, Mariëlle; Sailer, Sebastian; Schaaf, Christian P; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter.

Genet Med ; 26(3): 101050, 2024 Mar.

Article in English | MEDLINE | ID: mdl-38126281

7.

Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.

Rots, Dmitrijs; Rooney, Kathleen; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Pfundt, Rolph; Marcelis, Carlo; Willemsen, Marjolein H; van Hagen, Johanna M; Zwijnenburg, Petra; Alders, Marielle; Õunap, Katrin; Reimand, Tiia; Fjodorova, Olga; Berland, Siren; Liahjell, Eva Benedicte; Bojovic, Ognjen; Kriek, Marjolein; Ruivenkamp, Claudia; Bonati, Maria Teresa; Brunner, Han G; Vissers, Lisenka E L M; Sadikovic, Bekim; Kleefstra, Tjitske.

Clin Genet ; 2024 Feb 21.

Article in English | MEDLINE | ID: mdl-38384171

8.

Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.

van Slobbe, Michelle; van Haeringen, Arie; Vissers, Lisenka E L M; Bijlsma, Emilia K; Rutten, Julie W; Suerink, Manon; Nibbeling, Esther A R; Ruivenkamp, Claudia A L; Koene, Saskia.

Eur J Pediatr ; 183(1): 345-355, 2024 Jan.

Article in English | MEDLINE | ID: mdl-37889289

9.

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.

Nabais Sá, Maria J; El Tekle, Geniver; de Brouwer, Arjan P M; Sawyer, Sarah L; Del Gaudio, Daniela; Parker, Michael J; Kanani, Farah; van den Boogaard, Marie-José H; van Gassen, Koen; Van Allen, Margot I; Wierenga, Klaas; Purcarin, Gabriela; Elias, Ellen Roy; Begtrup, Amber; Keller-Ramey, Jennifer; Bernasocchi, Tiziano; van de Wiel, Laurens; Gilissen, Christian; Venselaar, Hanka; Pfundt, Rolph; Vissers, Lisenka E L M; Theurillat, Jean-Philippe P; de Vries, Bert B A.

Am J Hum Genet ; 106(3): 405-411, 2020 03 05.

Article in English | MEDLINE | ID: mdl-32109420

10.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Vissers, Lisenka E L M; Kalvakuri, Sreehari; de Boer, Elke; Geuer, Sinje; Oud, Machteld; van Outersterp, Inge; Kwint, Michael; Witmond, Melde; Kersten, Simone; Polla, Daniel L; Weijers, Dilys; Begtrup, Amber; McWalter, Kirsty; Ruiz, Anna; Gabau, Elisabeth; Morton, Jenny E V; Griffith, Christopher; Weiss, Karin; Gamble, Candace; Bartley, James; Vernon, Hilary J; Brunet, Kendra; Ruivenkamp, Claudia; Kant, Sarina G; Kruszka, Paul; Larson, Austin; Afenjar, Alexandra; Billette de Villemeur, Thierry; Nugent, Kimberly; Raymond, F Lucy; Venselaar, Hanka; Demurger, Florence; Soler-Alfonso, Claudia; Li, Dong; Bhoj, Elizabeth; Hayes, Ian; Hamilton, Nina Powell; Ahmad, Ayesha; Fisher, Rachel; van den Born, Myrthe; Willems, Marjolaine; Sorlin, Arthur; Delanne, Julian; Moutton, Sebastien; Christophe, Philippe; Mau-Them, Frederic Tran; Vitobello, Antonio; Goel, Himanshu; Massingham, Lauren; Phornphutkul, Chanika.

Am J Hum Genet ; 107(1): 164-172, 2020 07 02.

Article in English | MEDLINE | ID: mdl-32553196

11.

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

de Bruijn, Suzanne E; Rodenburg, Kim; Corominas, Jordi; Ben-Yosef, Tamar; Reurink, Janine; Kremer, Hannie; Whelan, Laura; Plomp, Astrid S; Berger, Wolfgang; Farrar, G Jane; Ferenc Kovács, Árpád; Fajardy, Isabelle; Hitti-Malin, Rebekkah J; Weisschuh, Nicole; Weener, Marianna E; Sharon, Dror; Pennings, Ronald J E; Haer-Wigman, Lonneke; Hoyng, Carel B; Nelen, Marcel R; Vissers, Lisenka E L M; van den Born, L Ingeborgh; Gilissen, Christian; Cremers, Frans P M; Hoischen, Alexander; Neveling, Kornelia; Roosing, Susanne.

Genet Med ; 25(3): 100345, 2023 03.

Article in English | MEDLINE | ID: mdl-36524988

12.

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Denommé-Pichon, Anne-Sophie; Matalonga, Leslie; de Boer, Elke; Jackson, Adam; Benetti, Elisa; Banka, Siddharth; Bruel, Ange-Line; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Duffourd, Yannis; Ellwanger, Kornelia; Fallerini, Chiara; Gilissen, Christian; Graessner, Holm; Haack, Tobias B; Havlovicova, Marketa; Hoischen, Alexander; Jean-Marçais, Nolwenn; Kleefstra, Tjitske; López-Martín, Estrella; Macek, Milan; Mencarelli, Maria Antonietta; Moutton, Sébastien; Pfundt, Rolph; Pizzi, Simone; Posada, Manuel; Radio, Francesca Clementina; Renieri, Alessandra; Rooryck, Caroline; Ryba, Lukas; Safraou, Hana; Schwarz, Martin; Tartaglia, Marco; Thauvin-Robinet, Christel; Thevenon, Julien; Tran Mau-Them, Frédéric; Trimouille, Aurélien; Votypka, Pavel; de Vries, Bert B A; Willemsen, Marjolein H; Zurek, Birte; Verloes, Alain; Philippe, Christophe; Vitobello, Antonio; Vissers, Lisenka E L M; Faivre, Laurence.

Genet Med ; 25(4): 100018, 2023 04.

Article in English | MEDLINE | ID: mdl-36681873

13.

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.

Olde Keizer, Richelle A C M; Marouane, Abderrahim; Kerstjens-Frederikse, Wilhelmina S; Deden, A Chantal; Lichtenbelt, Klaske D; Jonckers, Tinneke; Vervoorn, Marieke; Vreeburg, Maaike; Henneman, Lidewij; de Vries, Linda S; Sinke, Richard J; Pfundt, Rolph; Stevens, Servi J C; Andriessen, Peter; van Lingen, Richard A; Nelen, Marcel; Scheffer, Hans; Stemkens, Daphne; Oosterwijk, Cor; van Amstel, Hans Kristian Ploos; de Boode, Willem P; van Zelst-Stams, Wendy A G; Frederix, Geert W J; Vissers, Lisenka E L M.

Eur J Pediatr ; 182(6): 2683-2692, 2023 Jun.

Article in English | MEDLINE | ID: mdl-36997769

14.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Reynhout, Sara; Jansen, Sandra; Haesen, Dorien; van Belle, Siska; de Munnik, Sonja A; Bongers, Ernie M H F; Schieving, Jolanda H; Marcelis, Carlo; Amiel, Jeanne; Rio, Marlène; Mclaughlin, Heather; Ladda, Roger; Sell, Susan; Kriek, Marjolein; Peeters-Scholte, Cacha M P C D; Terhal, Paulien A; van Gassen, Koen L; Verbeek, Nienke; Henry, Sonja; Scott Schwoerer, Jessica; Malik, Saleem; Revencu, Nicole; Ferreira, Carlos R; Macnamara, Ellen; Braakman, Hilde M H; Brimble, Elise; Ruzhnikov, Maura R Z; Wagner, Matias; Harrer, Philip; Wieczorek, Dagmar; Kuechler, Alma; Tziperman, Barak; Barel, Ortal; de Vries, Bert B A; Gordon, Christopher T; Janssens, Veerle; Vissers, Lisenka E L M.

Am J Hum Genet ; 104(1): 139-156, 2019 01 03.

Article in English | MEDLINE | ID: mdl-30595372

15.

Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders.

Dingemans, Alexander J M; Hinne, Max; Jansen, Sandra; van Reeuwijk, Jeroen; de Leeuw, Nicole; Pfundt, Rolph; van Bon, Bregje W; Vulto-van Silfhout, Anneke T; Kleefstra, Tjitske; Koolen, David A; van Gerven, Marcel A J; Vissers, Lisenka E L M; de Vries, Bert B A.

Genet Med ; 24(3): 645-653, 2022 03.

Article in English | MEDLINE | ID: mdl-34906484

16.

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

van der Spek, Jet; den Hoed, Joery; Snijders Blok, Lot; Dingemans, Alexander J M; Schijven, Dick; Nellaker, Christoffer; Venselaar, Hanka; Astuti, Galuh D N; Barakat, Tahsin Stefan; Bebin, E Martina; Beck-Wödl, Stefanie; Beunders, Gea; Brown, Natasha J; Brunet, Theresa; Brunner, Han G; Campeau, Philippe M; Cuturilo, Goran; Gilissen, Christian; Haack, Tobias B; Hüning, Irina; Husain, Ralf A; Kamien, Benjamin; Lim, Sze Chern; Lovrecic, Luca; Magg, Janine; Maver, Ales; Miranda, Valancy; Monteil, Danielle C; Ockeloen, Charlotte W; Pais, Lynn S; Plaiasu, Vasilica; Raiti, Laura; Richmond, Christopher; Rieß, Angelika; Schwaibold, Eva M C; Simon, Marleen E H; Spranger, Stephanie; Tan, Tiong Yang; Thompson, Michelle L; de Vries, Bert B A; Wilkins, Ella J; Willemsen, Marjolein H; Francks, Clyde; Vissers, Lisenka E L M; Fisher, Simon E; Kleefstra, Tjitske.

Genet Med ; 24(6): 1283-1296, 2022 06.

Article in English | MEDLINE | ID: mdl-35346573

17.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

de Boer, Elke; Ockeloen, Charlotte W; Kampen, Rosalie A; Hampstead, Juliet E; Dingemans, Alexander J M; Rots, Dmitrijs; Lütje, Lukas; Ashraf, Tazeen; Baker, Rachel; Barat-Houari, Mouna; Angle, Brad; Chatron, Nicolas; Denommé-Pichon, Anne-Sophie; Devinsky, Orrin; Dubourg, Christèle; Elmslie, Frances; Elloumi, Houda Zghal; Faivre, Laurence; Fitzgerald-Butt, Sarah; Geneviève, David; Goos, Jacqueline A C; Helm, Benjamin M; Kini, Usha; Lasa-Aranzasti, Amaia; Lesca, Gaetan; Lynch, Sally A; Mathijssen, Irene M J; McGowan, Ruth; Monaghan, Kristin G; Odent, Sylvie; Pfundt, Rolph; Putoux, Audrey; van Reeuwijk, Jeroen; Santen, Gijs W E; Sasaki, Erina; Sorlin, Arthur; van der Spek, Peter J; Stegmann, Alexander P A; Swagemakers, Sigrid M A; Valenzuela, Irene; Viora-Dupont, Eléonore; Vitobello, Antonio; Ware, Stephanie M; Wéber, Mathys; Gilissen, Christian; Low, Karen J; Fisher, Simon E; Vissers, Lisenka E L M; Wong, Maggie M K; Kleefstra, Tjitske.

Genet Med ; 24(10): 2051-2064, 2022 10.

Article in English | MEDLINE | ID: mdl-35833929

18.

Characterization of the GABRB2-Associated Neurodevelopmental Disorders.

El Achkar, Christelle M; Harrer, Merle; Smith, Lacey; Kelly, McKenna; Iqbal, Sumaiya; Maljevic, Snezana; Niturad, Cristina E; Vissers, Lisenka E L M; Poduri, Annapurna; Yang, Edward; Lal, Dennis; Lerche, Holger; Møller, Rikke S; Olson, Heather E.

Ann Neurol ; 89(3): 573-586, 2021 03.

Article in English | MEDLINE | ID: mdl-33325057

19.

How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.

Wortmann, Saskia B; Oud, Machteld M; Alders, Mariëlle; Coene, Karlien L M; van der Crabben, Saskia N; Feichtinger, René G; Garanto, Alejandro; Hoischen, Alex; Langeveld, Mirjam; Lefeber, Dirk; Mayr, Johannes A; Ockeloen, Charlotte W; Prokisch, Holger; Rodenburg, Richard; Waterham, Hans R; Wevers, Ron A; van de Warrenburg, Bart P C; Willemsen, Michel A A P; Wolf, Nicole I; Vissers, Lisenka E L M; van Karnebeek, Clara D M.

J Inherit Metab Dis ; 45(4): 663-681, 2022 07.

Article in English | MEDLINE | ID: mdl-35506430

20.

Genetic studies in intellectual disability and related disorders.

Vissers, Lisenka E L M; Gilissen, Christian; Veltman, Joris A.

Nat Rev Genet ; 17(1): 9-18, 2016 Jan.

Article in English | MEDLINE | ID: mdl-26503795

VHL CLAP/WR-PAHO/WHO

Latin-American Center for Perinatology, Woman and Reproductive Health

Config filters

Your selection (0)

Export format:

Export: