New and recurrent AAGAB mutations in punctate palmoplantar keratoderma von Pohler, E., Huber, M., Boonen, S.E., Zamiri, M., Gregersen, P.A., Sommerlund, M., Ramsing, M., Hohl, D., McLean, W.H.I., Smith, F.J.D.

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Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients von Zweier, C, Sticht, H, Bijlsma, E K, Clayton-Smith, J, Boonen, S E, Fryer, A, Greally, M T, Hoffmann, L, den Hollander, N S, Jongmans, M, Kant, S G, King, M D, Lynch, S A, McKee, S, Midro, A T, Park, S-M, Ricotti, V, Tarantino, E, Wessels, M, Peippo, M, Rauch, A

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The Danish HD Registry—a nationwide family registry of HD families in Denmark von Gilling, M., Budtz‐Jørgensen, E., Boonen, S.E., Lildballe, D., Bojesen, A., Hertz, J.M., Sørensen, S.A.

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Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus von MACKAY, D. J. G, HAHNEMANN, J. M. D, CLAYTON-SMITH, J, TEMPLE, I. K, BOONEN, S. E, POERKSEN, S, BUNYAN, D. J, WHITE, H. E, DURSTON, V. J, THOMAS, N. S, ROBINSON, D. O, SHIELD, J. P. H

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Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome von Boonen, S.E., Stahl, D., Kreiborg, S., Rosenberg, T., Kalscheuer, V., Larsen, L.A., Tommerup, N., Brøndum‐Nielsen, K., Tümer, Z.

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A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus von Mackay, D J G, Boonen, S E, Clayton-Smith, J, Goodship, J, Hahnemann, J M D, Kant, S G, Njølstad, P R, Robin, N H, Robinson, D O, Siebert, R, Shield, J P H, White, H E, Temple, I K

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A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus von MACKAY, D. J. G, BOONEN, S. E, SHIELD, J. P. H, WHITE, H. E, TEMPLE, I. K, CLAYTON-SMITH, J, GOODSHIP, J, HAHNEMANN, J. M. D, KANT, S. G, NJOLSTAD, P. R, ROBIN, N. H, ROBINSON, D. O, SIEBERT, R

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Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP von Van Dijck, Anke, Vulto-van Silfhout, Anneke T., Cappuyns, Elisa, van der Werf, Ilse M., Mancini, Grazia M., Tzschach, Andreas, Bernier, Raphael, Gozes, Illana, Eichler, Evan E., Romano, Corrado, Lindstrand, Anna, Nordgren, Ann, Bakshi, Madhura, Wilson, Meredith, Berman, Yemina, Dickson, Rebecca, Fransen, Erik, Helsmoortel, Céline, Van den Ende, Jenneke, Van der Aa, Nathalie, van de Wijdeven, Marina J., Rosenblum, Jessica, Monteiro, Fabíola, Kok, Fernando, Quercia, Nada, Bowdin, Sarah, Dyment, David, Chitayat, David, Alkhunaizi, Ebba, Boonen, Susanne E., Keren, Boris, Jacquette, Aurelia, Faivre, Laurence, Bezieau, Stephane, Isidor, Bertrand, Rieß, Angelika, Moog, Ute, Lynch, Sally Ann, McVeigh, Terri, Elpeleg, Orly, Smeland, Marie Falkenberg, Fannemel, Madeleine, van Haeringen, Arie, Maas, Saskia M., Veenstra-Knol, H.E., Schouten, Meyke, Willemsen, Marjolein H., Marcelis, Carlo L., Ockeloen, Charlotte, van der Burgt, Ineke, Feenstra, Ilse, van der Smagt, Jasper, Jezela-Stanek, Aleksandra, Krajewska-Walasek, Malgorzata, González-Lamuño, Domingo, Anderlid, Britt-Marie, Malmgren, Helena, Nordenskjöld, Magnus, Hurst, Jane, Metcalfe, Kay, Mansour, Sahar, Lachlan, Katherine, Clayton-Smith, Jill, Hendon, Laura G., Abdulrahman, Omar A., Morrow, Eric, McMillan, Clare, Gerdts, Jennifer, Peeden, Joseph, Schrier Vergano, Samantha A., Valentino, Caitlin, Chung, Wendy K., Ozmore, Jillian R., Bedrosian-Sermone, Sandra, Treat, Kayla, Hughes, Susan Starling, Safina, Nicole, Le Pichon, Jean-Baptiste, McGuire, Marianne, Infante, Elena, Madan-Khetarpal, Suneeta, Desai, Sonal, Benke, Paul, Krokosky, Alyson, Cristian, Ingrid, Baker, Laura, Gripp, Karen, Stessman, Holly A., Eichenberger, Jacob, Jayakar, Parul, Manning, Melanie Ann, Slattery, Leah, Kvarnung, Malin, Kleefstra, Tjitske, de Vries, Bert B.A., Küry, Sébastien, Rosenfeld, Jill A., Meuwissen, Marije E., Vandeweyer, Geert, Kooy, R. Frank

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Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver–Russell syndrome and growth retardation von Grønskov, Karen, Poole, Rebecca L, Hahnemann, Johanne M D, Thomson, Jennifer, Tümer, Zeynep, Brøndum-Nielsen, Karen, Murphy, Rinki, Ravn, Kirstine, Melchior, Linea, Dedic, Alma, Dolmer, Birgitte, Temple, I Karen, Boonen, Susanne E, Mackay, Deborah J G

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Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores von Leslie, Goska, Dennis, Joe, Yang, Xin, Adlard, Julian, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Arnold, Norbert, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barwell, Julian, Belotti, Muriel, Berthet, Pascaline, Boonen, Susanne E, Borg, Åke, Brennan, Paul, Brewer, Carole, Bucalo, Agostino, Buys, Saundra S, Campbell, Ian, Cassingham, Hayley, Christensen, Lise Lotte, Claes, Kathleen B M, Coppa, Anna, Damante, Giuseppe, Davidson, Rosemarie, De Leeneer, Kim, de Putter, Robin, Del Valle, Jesús, Ding, Yuan Chun, Domchek, Susan M, Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Evans, D Gareth, Feliubadaló, Lidia, Gehrig, Andrea, Giraud, Sophie, Godwin, Andrew K, Gregory, Helen, Hahnen, Eric, Hamann, Ute, Hansen, Thomas V O, Hentschel, Julia, Horvath, Judit, Izquierdo, Angel, Jensen, Uffe Birk, John, Esther M, Kruse, Torben A, Lautrup, Charlotte, Lesueur, Fabienne, Manoukian, Siranoush, Meindl, Alfons, Monteiro, Alvaro N, Morrison, Patrick J, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo I, Palli, Domenico, Parsons, Michael T, Pedersen, Inge Sokilde, Perez-Segura, Pedro, Petersen, Annabeth H, Pinto, Pedro, Pottinger, Caroline, Ramser, Juliane, Rantala, Johanna, Robson, Mark, Rogers, Mark T, Sánchez de Abajo, Ana María, Shah, Payal D, Sharif, Saba, Side, Lucy E, Steele, Linda, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teulé, Alex, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tommasi, Stefania, Toss, Angela, Trainer, Alison H, van Asperen, Christi J, Venturelli, Marta, Vijai, Joseph, Walker, Lisa, Wang-Gohrke, Shan, Whaite, Anna, Offit, Kenneth, Simard, Jacques, Easton, Douglas F, Chenevix-Trench, Georgia, Ottini, Laura

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Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness von Patel, Vivek L., Busch, Evan L., Friebel, Tara M., Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomaki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barnes, Daniel R., Barroso, Alicia, Barrowdale, Daniel, Belotti, Muriel, Benitez, Javier, Bertelsen, Brigitte, Blok, Marinus J., Bodrogi, Istvan, Bonadona, Valerie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E., Borde, Julika, Borg, Ake, Bradbury, Angela R., Brady, Angela, Brewer, Carole, Brunet, Joan, Buecher, Bruno, Buys, Saundra S., Cabezas-Camarero, Santiago, Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Calvello, Mariarosaria, Campbell, Ian G., Carnevali, Ileana, Carrasco, Estela, Chan, Tsun L., Chu, Annie T. W., Chung, Wendy K., Claes, Kathleen B. M., Cook, Jackie, Cortesi, Laura, Couch, Fergus J., Daly, Mary B., Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, Della Puppa, Lara, Dennis, Joe, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M., Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F., Eccles, Diana M., Eeles, Rosalind A., Ehrencrona, Hans, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadalo, Lidia, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Geczi, Lajos, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Gutierrez-Barrera, Angelica M., Hahnen, Eric, Hamann, Ute, Hauke, Jan, Herold, Natalie

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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers von Hakkaart, Christopher, Pearson, John F., Marquart, Louise, Wiggins, George A. R., Barnes, Daniel R., Robinson, Bridget A., Andrulis, Irene L., Arun, Banu K., Balmaña, Judith, Barkardottir, Rosa B., Berger, Lieke, Boonen, Susanne E., Borde, Julika, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Chung, Wendy K., Claes, Kathleen B. M., Collonge-Rame, Marie-Agnès, Cook, Jackie, Couch, Fergus J., de la Hoya, Miguel, de Putter, Robin, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Donaldson, Alan, Easton, Douglas F., Ehrencrona, Hans, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Feliubadaló, Lidia, Fostira, Florentia, Garber, Judy, Gayther, Simon A., Gehrig, Andrea, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Hahnen, Eric, Hamann, Ute, Hansen, Thomas V. O., Hentschel, Julia, Herold, Natalie, Isaacs, Claudine, Izquierdo, Angel, Janavicius, Ramunas, Karlan, Beth Y., Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Leslie, Goska, Mai, Phuong L., Mari, Véronique, Martens, John W. M., McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana, Perez-Segura, Pedro, Pocza, Timea, Radice, Paolo, Rossing, Maria, Schmutzler, Rita K., Shah, Payal D., Side, Lucy E., Singer, Christian F., Steinemann, Doris, Stoppa-Lyonnet, Dominique, Teo, Soo Hwang, Thull, Darcy L., Toland, Amanda E., Trainer, Alison H., Vega, Ana, Viel, Alessandra, Walker, Lisa, Weitzel, Jeffrey N., Chenevix-Trench, Georgia, Spurdle, Amanda B., Walker, Logan C.

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Homologous recombination DNA repair defects in PALB2-associated breast cancers von Li, A, Geyer, FC, Blecua, P, Lee, JY, Selenica, P, Brown, DN, Pareja, F, Lee, SSK, Rivera, B, Piscuoglio, S, Wen, HY, Lozada, JR, Gularte-Merida, R, Rezoug, Z, Nguyen-Dumont, T, Peterlongo, P, Terkelsen, T, Boonen, SE, Mannerma, A, Winqvist, R, Janatova, M, Norton, L, Robson, ME, Looi, L-M, Southey, MC, Weigelt, B, Soo-Hwang, T, Tischkowitz, M, Foulkes, WD, Reis-Filho, JS, Aghmesheh, M, Amor, D, Antill, Y, Beesley, J, Blackburn, A, Bogwitz, M, Brown, M, Burgess, M, Burke, J, Caldon, L, Campbell, I, Christian, A, Clarke, C, Cohen, P, Dawson, S-J, De Fazio, A, Delatycki, M, Dobrovic, A, Dudding, T, Duijf, P, Edwards, S, Farshid, G, Fellows, A, Field, M, Fong, P, Forbes, J, Fox, S, Friedlander, M, Ortega, DG, Gattas, M, Giles, G, Gill, G, Greening, S, Harris, M, Hayward, N, Hickie, I, Hopper, J, James, P, Jenkins, M, Kentwell, M, Kirk, J, Kollias, J, Lok, S, Macrea, F, Mane, G, Marsh, D, Mclachlan, S-A, Meiser, B, Milne, R, Pachter, N, Phillips, K, Saleh, M, Saunders, C, Saunus, J, Scott, C, Scott, R, Sexton, A, Shelling, A, Simpson, P, Spigelman, A, Spurdle, M, Taylor, J, Trainer, A, Tucker, K, Visvader, J, Walker, L, Wallis, M, Williams, R, Winship, I, Wu, K

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New and recurrent AAGAB mutations in punctate palmoplantar keratoderma von Pohler, E, Huber, M, Boonen, S E, Zamiri, M, Gregersen, P A, Sommerlund, M, Ramsing, M, Hohl, D, McLean, W H I, Smith, F J D

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A machine learning approach reveals features related to clinicians' diagnosis of clinically relevant knee osteoarthritis von Wang, Qiuke, Runhaar, Jos, Kloppenburg, Margreet, Boers, Maarten, Bijlsma, Johannes W J, Bacardit, Jaume, Bierma-Zeinstra, Sita M A

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Neuronal activity enhances tau propagation and tau pathology in vivo von Wu, Jessica W, Hussaini, S Abid, Bastille, Isle M, Rodriguez, Gustavo A, Mrejeru, Ana, Rilett, Kelly, Sanders, David W, Cook, Casey, Fu, Hongjun, Boonen, Rick A C M, Herman, Mathieu, Nahmani, Eden, Emrani, Sheina, Figueroa, Y Helen, Diamond, Marc I, Clelland, Catherine L, Wray, Selina, Duff, Karen E

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What underlies successful word problem solving? A path analysis in sixth grade students von Boonen, Anton J.H., van der Schoot, Menno, van Wesel, Floryt, de Vries, Meinou H., Jolles, Jelle

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Work outcome in yet undiagnosed patients with non-radiographic axial spondyloarthritis and ankylosing spondylitis; results of a cross-sectional study among patients with chronic lo... von van Hoeven, Lonneke, Boonen, Annelies E R C H, Hazes, Johanna M W, Weel, Angelique E A M

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Ship energy management for hybrid propulsion and power supply with shore charging von Kalikatzarakis, M., Geertsma, R.D., Boonen, E.J., Visser, K., Negenborn, R.R.

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Once-Yearly Zoledronic Acid for Treatment of Postmenopausal Osteoporosis von Black, Dennis M, Delmas, Pierre D, Eastell, Richard, Reid, Ian R, Boonen, Steven, Cauley, Jane A, Cosman, Felicia, Lakatos, Péter, Leung, Ping Chung, Man, Zulema, Mautalen, Carlos, Mesenbrink, Peter, Hu, Huilin, Caminis, John, Tong, Karen, Rosario-Jansen, Theresa, Krasnow, Joel, Hue, Trisha F, Sellmeyer, Deborah, Eriksen, Erik Fink, Cummings, Steven R

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