Adult male patient with severe intellectual disability caused by a homozygous mutation in the HNMT gene

por Verhoeven, Willem M A, Egger, Jos I M, Janssen, Paddy K C, van Haeringen, Arie
Publicado 2020

Mutation in NRAS in familial Noonan syndrome – case report and review of the literature

por Ekvall, Sara, Wilbe, Maria, Dahlgren, Jovanna, Legius, Eric, van Haeringen, Arie, Westphal, Otto, Annerén, Göran, Bondeson, Marie-Louise
Publicado 2015

Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy Vegfa overexpression

por Lind, Thomas, Lugano, Roberta, Gustafson, Ann-Marie, Norgård, Maria, van Haeringen, Arie, Dimberg, Anna, Melhus, Håkan, Robertson, Stephen P., Andersson, Göran
Publicado 2018

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway

por Popov, Ivan K., Hiatt, Susan M., Whalen, Sandra, Keren, Boris, Ruivenkamp, Claudia, van Haeringen, Arie, Chen, Mei-Jan, Cooper, Gregory M., Korf, Bruce R., Chang, Chenbei
Publicado 2019

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects

por Runtuwene, Vincent, van Eekelen, Mark, Overvoorde, John, Rehmann, Holger, Yntema, Helger G., Nillesen, Willy M., van Haeringen, Arie, van der Burgt, Ineke, Burgering, Boudewijn, den Hertog, Jeroen
Publicado 2011

An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature

por Lauffer, Peter, Miranda-Laferte, Erick, van Duyvenvoorde, Hermine A, van Haeringen, Arie, Werner, Franziska, Boudin, Eveline, Schmidt, Hannes, Mueller, Thomas D, Kuhn, Michaela, van der Kaay, Daniëlle C M
Publicado 2020

Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation family

por Koene, Saskia, Klerx‐Melis, Floortje, Roest, Arno Anne Willem, Kleijwegt, Maarten Cornelis, Bootsma, Marianne, Haak, Monique C., van Haeringen, Meike Heleen, Ruivenkamp, Claudia Antoinette Laetitia, Nibbeling, Esther Anne Rieky, van Haeringen, Arie
Publicado 2022

Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature

por Lauffer, Peter, Boudin, Eveline, van der Kaay, Daniëlle C M, Koene, Saskia, van Haeringen, Arie, van Tellingen, Vera, Van Hul, Wim, Prickett, Timothy C R, Mortier, Geert, Espiner, Eric A, van Duyvenvoorde, Hermine A
Publicado 2022

Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36

por Zaveri, Hitisha P., Beck, Tyler F., Hernández-García, Andrés, Shelly, Katharine E., Montgomery, Tara, van Haeringen, Arie, Anderlid, Britt-Marie, Patel, Chirag, Goel, Himanshu, Houge, Gunnar, Morrow, Bernice E., Cheung, Sau Wai, Lalani, Seema R., Scott, Daryl A.
Publicado 2014

Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans

por de Pontual, Loïc, Yao, Evelyn, Callier, Patrick, Faivre, Laurence, Drouin, Valérie, Cariou, Sandra, Van Haeringen, Arie, Geneviève, David, Goldenberg, Alice, Oufadem, Myriam, Manouvrier, Sylvie, Munnich, Arnold, Vidigal, Joana Alves, Vekemans, Michel, Lyonnet, Stanislas, Henrion-Caude, Alexandra, Ventura, Andrea, Amiel, Jeanne
Publicado 2011

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies

por Schröter, Julian, Popp, Bernt, Brennenstuhl, Heiko, Döring, Jan H., Donze, Stephany H., Bijlsma, Emilia K., van Haeringen, Arie, Huhle, Dagmar, Jestaedt, Leonie, Merkenschlager, Andreas, Arelin, Maria, Gräfe, Daniel, Neuser, Sonja, Oates, Stephanie, Pal, Deb K., Parker, Michael J., Lemke, Johannes R., Hoffmann, Georg F., Kölker, Stefan, Harting, Inga, Syrbe, Steffen
Publicado 2022

Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders

por Lee, Sunwoo, Menzies, Lara, Hay, Eleanor, Ochoa, Eguzkine, Docquier, France, Rodger, Fay, Deshpande, Charu, Foulds, Nicola C, Jacquemont, Sébastien, Jizi, Khadije, Kiep, Henriette, Kraus, Alison, Löhner, Katharina, Morrison, Patrick J, Popp, Bernt, Richardson, Ruth, van Haeringen, Arie, Martin, Ezequiel, Toribio, Ana, Li, Fudong, Jones, Wendy D, Sansbury, Francis H, Maher, Eamonn R
Publicado 2023

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

por Wolfe, Kate, McQuillin, Andrew, Alesi, Viola, Boudry Labis, Elise, Cutajar, Peter, Dallapiccola, Bruno, Dentici, Maria Lisa, Dieux‐Coeslier, Anne, Duban‐Bedu, Benedicte, Duelund Hjortshøj, Tina, Goel, Himanshu, Loddo, Sara, Morrogh, Deborah, Mosca‐Boidron, Anne‐Laure, Novelli, Antonio, Olivier‐Faivre, Laurence, Parker, Jennifer, Parker, Michael J., Patch, Christine, Pelling, Anna L., Smol, Thomas, Tümer, Zeynep, Vanakker, Olivier, van Haeringen, Arie, Vanlerberghe, Clémence, Strydom, Andre, Skuse, David, Bass, Nick
Publicado 2018

Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons

por Runge, Karen, Mathieu, Rémi, Bugeon, Stéphane, Lafi, Sahra, Beurrier, Corinne, Sahu, Surajit, Schaller, Fabienne, Loubat, Arthur, Herault, Leonard, Gaillard, Stéphane, Pallesi-Pocachard, Emilie, Montheil, Aurélie, Bosio, Andreas, Rosenfeld, Jill A., Hudson, Eva, Lindstrom, Kristin, Mercimek-Andrews, Saadet, Jeffries, Lauren, van Haeringen, Arie, Vanakker, Olivier, Van Hecke, Audrey, Amrom, Dina, Küry, Sebastien, Ratner, Chana, Jethva, Reena, Gamble, Candace, Jacq, Bernard, Fasano, Laurent, Santpere, Gabriel, Lorente-Galdos, Belen, Sestan, Nenad, Gelot, Antoinette, Giacuzz, Sylvie, Goebbels, Sandra, Represa, Alfonso, Cardoso, Carlos, Cremer, Harold, de Chevigny, Antoine
Publicado 2021

Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons

por Runge, Karen, Mathieu, Rémi, Bugeon, Stéphane, Lafi, Sahra, Beurrier, Corinne, Sahu, Surajit, Schaller, Fabienne, Loubat, Arthur, Herault, Leonard, Gaillard, Stéphane, Pallesi-Pocachard, Emilie, Montheil, Aurélie, Bosio, Andreas, Rosenfeld, Jill A., Hudson, Eva, Lindstrom, Kristin, Mercimek-Andrews, Saadet, Jeffries, Lauren, van Haeringen, Arie, Vanakker, Olivier, Van Hecke, Audrey, Amrom, Dina, Küry, Sebastien, Ratner, Chana, Jethva, Reena, Gamble, Candace, Jacq, Bernard, Fasano, Laurent, Santpere, Gabriel, Lorente-Galdos, Belen, Sestan, Nenad, Gelot, Antoinette, Giacuzz, Sylvie, Goebbels, Sandra, Represa, Alfonso, Cardoso, Carlos, Cremer, Harold, de Chevigny, Antoine
Publicado 2021

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

por Vandervore, Laura V, Schot, Rachel, Kasteleijn, Esmee, Oegema, Renske, Stouffs, Katrien, Gheldof, Alexander, Grochowska, Martyna M, van der Sterre, Marianne L T, van Unen, Leontine M A, Wilke, Martina, Elfferich, Peter, van der Spek, Peter J, Heijsman, Daphne, Grandone, Anna, Demmers, Jeroen A A, Dekkers, Dick H W, Slotman, Johan A, Kremers, Gert-Jan, Schaaf, Gerben J, Masius, Roy G, van Essen, Anton J, Rump, Patrick, van Haeringen, Arie, Peeters, Els, Altunoglu, Umut, Kalayci, Tugba, Poot, Raymond A, Dobyns, William B, Bahi-Buisson, Nadia, Verheijen, Frans W, Jansen, Anna C, Mancini, Grazia M S
Publicado 2019

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

por Sobering, Andrew K., Bryant, Laura M., Li, Dong, McGaughran, Julie, Maystadt, Isabelle, Moortgat, Stephanie, Graham, John M., van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Vogt, Julie, Morton, Jenny, Brasch-Andersen, Charlotte, Steenhof, Maria, Hansen, Lars Kjærsgaard, Adler, Élodie, Lyonnet, Stanislas, Pingault, Veronique, Sandrine, Marlin, Ziegler, Alban, Donald, Tyhiesia, Nelson, Beverly, Holt, Brandon, Petryna, Oleksandra, Firth, Helen, McWalter, Kirsty, Zyskind, Jacob, Telegrafi, Aida, Juusola, Jane, Person, Richard, Bamshad, Michael J., Earl, Dawn, Tsai, Anne Chun-Hui, Yearwood, Katherine R., Marco, Elysa, Nowak, Catherine, Douglas, Jessica, Hakonarson, Hakon, Bhoj, Elizabeth J.
Publicado 2022

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

por Sobering, Andrew K., Bryant, Laura M., Li, Dong, McGaughran, Julie, Maystadt, Isabelle, Moortgat, Stephanie, Graham, John M., van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Vogt, Julie, Morton, Jenny, Brasch-Andersen, Charlotte, Steenhof, Maria, Hansen, Lars Kjærsgaard, Adler, Élodie, Lyonnet, Stanislas, Pingault, Veronique, Sandrine, Marlin, Ziegler, Alban, Donald, Tyhiesia, Nelson, Beverly, Holt, Brandon, Petryna, Oleksandra, Firth, Helen, McWalter, Kirsty, Zyskind, Jacob, Telegrafi, Aida, Juusola, Jane, Person, Richard, Bamshad, Michael J., Earl, Dawn, Chun-Hui Tsai, Anne, Yearwood, Katherine R., Marco, Elysa, Nowak, Catherine, Douglas, Jessica, Hakonarson, Hakon, Bhoj, Elizabeth J.
Publicado 2022

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

por Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Mancias, Pedro, Northrup, Hope, Kukolich, Mary K., Weiss, Marjan M., van Ravenswaaij-Arts, Conny M.A., Mathijssen, Inge B., Levesque, Sebastien, Meeks, Naomi, Rosenfeld, Jill A., Lemke, Danielle, Hamosh, Ada, Lewis, Suzanne K., Race, Simone, Stewart, Laura L., Hay, Beverly, Lewis, Andrea M., Guerreiro, Rita L., Bras, Jose T., Martins, Marcia P., Derksen-Lubsen, Gerarda, Peeters, Els, Stumpel, Connie, Stegmann, Sander, Bok, Levinus A., Santen, Gijs W.E., Schaaf, Christian P.
Publicado 2016

Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases

por Stessman, Holly A. F., Xiong, Bo, Coe, Bradley P., Wang, Tianyun, Hoekzema, Kendra, Fenckova, Michaela, Kvarnung, Malin, Gerdts, Jennifer, Trinh, Sandy, Cosemans, Nele, Vives, Laura, Lin, Janice, Turner, Tychele N., Santen, Gijs, Ruivenkamp, Claudia, Kriek, Marjolein, van Haeringen, Arie, Aten, Emmelien, Friend, Kathryn, Liebelt, Jan, Barnett, Christopher, Haan, Eric, Shaw, Marie, Gecz, Jozef, Anderlid, Britt-Marie, Nordgren, Ann, Lindstrand, Anna, Schwartz, Charles, Kooy, R. Frank, Vandeweyer, Geert, Helsmoortel, Celine, Romano, Corrado, Alberti, Antonino, Vinci, Mirella, Avola, Emanuela, Giusto, Stefania, Courchesne, Eric, Pramparo, Tiziano, Pierce, Karen, Nalabolu, Srinivasa, Amaral, David, Scheffer, Ingrid E., Delatycki, Martin B., Lockhart, Paul J., Hormozdiari, Fereydoun, Harich, Benjamin, Castells-Nobau, Anna, Xia, Kun, Peeters, Hilde, Nordenskjöld, Magnus, Schenck, Annette, Bernier, Raphael A., Eichler, Evan E.
Publicado 2017