Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome

Autor: Schei-Andersen, Ane J., van Oirschot, Bart, Drissen, Meggie M.C.M., Schieving, Jolanda, Schuurs-Hoeijmakers, Janneke H.M., Vos, Janet R., Barton, Claire M., Hoogerbrugge, Nicoline

Publikováno v: In International Dental Journal December 2024 74(6):1424-1431

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

Autor: Agrawal, Pankaj, Armstrong Scott, Daryl, Barkoudah, Elizabeth, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark, Clement, Emma, Coman, David, Costin, Carrie, Devriendt, Koen, Dong, Dexin, Dries, Annika, Duelund Hjortshøj, Tina, Dyment, David, Eng, Christine, Genetti, Casie, Grano, Siera, Henneman, Peter, Heron, Delphine, Hoffmann, Katrin, Hom, Jason, Du, Haowei, Iascone, Maria, Isidor, Bertrand, Järvelä, Irma E., Jones, Julie, Keren, Boris, Koenig, Mary Kay, Kohlhase, Jürgen, Lalani, Seema, Le Caignec, Cedric, Lewis, Andi, Liu, Pengfei, Lovgren, Alysia, Lupski, James R., Lyons, Mike, Lysy, Philippe, Manning, Melanie, Marcelis, Carlo, McLean, Scott Douglas, Mercie, Sandra, Mertens, Mareike, Molin, Arnaud, Nizon, Mathilde, Nugent, Kimberly Margaret, Öhman, Susanna, O'Leary, Melanie, Okashah Littlejohn, Rebecca, Petit, Florence, Pfundt, Rolph, Pottocki, Lorraine, Raas-Rotschild, Annick, Ranguin, Kara, Revencu, Nicole, Rosenfeld, Jill, Rhodes, Lindsay, Santos Simmaro, Fernando, Sals, Karen, Schieving, Jolanda, Schrauwen, Isabelle, Schuurs-Hoeijmakers, Janneke H.M., Seaby, Eleanor G., Sheffer, Ruth, Snijders Blok, Lot, Sørensen, Kristina P., Srivastava, Siddharth, Stark, Zornitza, Stoeva, Radka, Stutterd, Chloe, Tan, Natalie B., Mathiesen Torring, Pernille, Vanakker, Olivier, van der Laan, Liselot, Ververi, Athina, Villavicencio-Lorini, Pablo, Vincent, Marie, Wand, Dorothea, Wessels, Marja, White, Sue, Wojcik, Monica H., Wu, Nan, Zhao, Sen, Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, María, Carels, Marieke, Dermaut, Bart, Sadikovic, Bekim, Menten, Björn, Yuan, Bo, Vergult, Sarah, Callewaert, Bert

Publikováno v: In The American Journal of Human Genetics 7 March 2024 111(3):509-528

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Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

Autor: Schobers, Gaby^1,2 (AUTHOR), Schieving, Jolanda H.^2,3 (AUTHOR), Yntema, Helger G.¹ (AUTHOR), Pennings, Maartje¹ (AUTHOR), Pfundt, Rolph¹ (AUTHOR), Derks, Ronny¹ (AUTHOR), Hofste, Tom¹ (AUTHOR), de Wijs, Ilse¹ (AUTHOR), Wieskamp, Nienke¹ (AUTHOR), van den Heuvel, Simone¹ (AUTHOR), Galbany, Jordi Corominas^1,4 (AUTHOR), Gilissen, Christian^1,4 (AUTHOR), Nelen, Marcel¹ (AUTHOR), Brunner, Han G.^1,2,5 (AUTHOR), Kleefstra, Tjitske^1,2 (AUTHOR), Kamsteeg, Erik-Jan¹ (AUTHOR), Willemsen, Michèl A. A. P.^2,3 (AUTHOR), Vissers, Lisenka E. L. M.^1,2 (AUTHOR) lisenka.vissers@radboudumc.nl

Publikováno v: Genome Medicine. 6/17/2022, Vol. 14, p1-10. 10p.

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