The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants

- Furia, Francesca, Levy, Amanda M., Dean, Sarah Joy, Egense, Alena, Goel, Himanshu, Guenzel, Adam J., Hüffmeier, Ulrike, Legius, Eric, Mancini, Grazia M. S., Marcos-Alcalde, Iñigo, Niclass, Tanguy, Planes, Marc, Theunis, Miel, Redon, Sylvia, Ros-Pardo, D, Rouault, K, Schot, R, Schuhmann, S, Shen, JJ, Tao, AM, Thiffault, I, Van Esch, H, Wentzensen, IM, Bamshad, Michael J., Barakat, TS, Møller, RS, Gomez-Puertas, P, Chung, WK, Gardella, E, Tümer, Z, Bartos, Meghan N., Bijlsma, Emilia K., Brancati, Francesco, Cejudo, Lucile, Chong, Jessica X., De Luca, Chiara

Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance

- Leffler, Melanie, Christie, Louise, Hackett, Anna, Bennetts, Bruce, Goel, Himanshu, Amor, David J., Peters, Greg B., Field, Michael, Dudding-Byth, Tracy

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

- Rossi, Alessandra, Blok, Lot Snijders, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Neuser, Sonja, Murch, Oliver, Irving, R, Lynch, SA, Mehta, SG, Carmichael, J, Zonneveld-Huijssoon, E, de Vries, B, Kleefstra, T, Johannesen, KM, Westphall, IT, Klöckner, Chiara, Hughes, SS, Smithson, S, Evans, J, Dudding-Byth, Tracy, Simon, M, van Binsbergen, E, Herkert, JC, Beunders, G, Oppermann, H, Bakal, M, Platzer, Konrad, Møller, RS, Rubboli, G, Bayat, A, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello

Exome sequencing of familial adenomatous polyposis-like individuals identifies both known and novel causative genes

- Xavier, Alexandre, Scott, Rodney J., Talseth-Palmer, Bente

New EPCAM founder deletion in Polish population

- Dymerska, D., Gołębiewska, K., Szwiec, M., Kilar, E., Huzarski, T., Byrski, T., Lubiński, J., Kurzawski, G., Kuświk, M., Rudnicka, H., Scott, R. J., Billings, R., Pławski, A., Boruń, P., Siołek, M., Kozak-Klonowska, B.

Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome

- Hansen, Maren F., Johansen, Jostein, Sjursen, Wenche, Sylvander, Anna E., Bjørnevoll, Inga, Talseth-Palmer, Bente A., Lavik, Liss A. S., Xavier, Alexandre, Engebretsen, Lars F., Scott, Rodney J., Drabløs, Finn

Cumulative effects of genetic markers and the detection of advanced colorectal neoplasias by population screening

- Kurlapska, A., Serrano-Fernández, P., Rogoza-Mateja, W., Scott, R. J., Lubiński, J., Baszuk, P., Gupta, S., Starzyńska, T., Małecka-Panas, E., Dabrowski, A., Dębniak, T., Kurzawski, G., Suchy, J.

cDNA analysis of the BRCA1 unclassified variant c.5194-12G > A (letter)

- Wong-Brown, M. W., McPhillips, M. L., Hipwell, M., Pecenpetelovska, G., Dooley, S., Meldrum, C., Scott, R. J.

Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation (letter)

- Turner, G., Boyle, J., Partington, M. W., Kerr, B., Raymond, F. L., Gecz, J.