The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants
- Creator: 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
- Resource Type: journal article
- Date: 2024
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance
- Creator: Leffler, Melanie , Christie, Louise , Hackett, Anna , Bennetts, Bruce , Goel, Himanshu , Amor, David J. , Peters, Greg B. , Field, Michael , Dudding-Byth, Tracy
- Resource Type: journal article
- Date: 2023
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum
- Creator: 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
- Resource Type: journal article
- Date: 2023
Exome sequencing of familial adenomatous polyposis-like individuals identifies both known and novel causative genes
- Creator: Xavier, Alexandre , Scott, Rodney J. , Talseth-Palmer, Bente
- Resource Type: journal article
- Date: 2021
New EPCAM founder deletion in Polish population
- Creator: 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.
- Resource Type: journal article
- Date: 2017
Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome
- Creator: 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
- Resource Type: journal article
- Date: 2017
Cumulative effects of genetic markers and the detection of advanced colorectal neoplasias by population screening
- Creator: 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.
- Resource Type: journal article
- Date: 2015
cDNA analysis of the BRCA1 unclassified variant c.5194-12G > A (letter)
- Creator: Wong-Brown, M. W. , McPhillips, M. L. , Hipwell, M. , Pecenpetelovska, G. , Dooley, S. , Meldrum, C. , Scott, R. J.
- Resource Type: journal article
- Date: 2013
Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation (letter)
- Creator: Turner, G. , Boyle, J. , Partington, M. W. , Kerr, B. , Raymond, F. L. , Gecz, J.
- Resource Type: journal article
- Date: 2008