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Published in The New England journal of medicine (13.09.2012)
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Contribution of retrotransposition to developmental disorders
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De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability
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Published in American journal of medical genetics. Part A (01.10.2015)
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The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients
Ostrowski, Philip J., Zachariou, Anna, Loveday, Chey, Beleza‐Meireles, Ana, Bertoli, Marta, Dean, John, Douglas, Andrew G. L., Ellis, Ian, Foster, Alison, Graham, John M., Hague, Jennifer, Hilhorst‐Hofstee, Yvonne, Hoffer, Mariette, Johnson, Diana, Josifova, Dragana, Kant, Sarina G., Kini, Usha, Lachlan, Katherine, Lam, Wayne, Lees, Melissa, Lynch, Sally, Maitz, Silvia, McKee, Shane, Metcalfe, Kay, Nathanson, Katherine, Ockeloen, Charlotte W., Parker, Michael J., Pierson, Tyler M., Rahikkala, Elisa, Sanchez‐Lara, Pedro A., Spano, Alice, Van Maldergem, Lionel, Cole, Trevor, Douzgou, Sofia, Tatton‐Brown, Katrina
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
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Bateman, Mark S., Collinson, Morag N., Bunyan, David J., Collins, Amanda L., Duncan, Philippa, Firth, Rachel, Harrison, Victoria, Homfray, Tessa, Huang, Shuwen, Kirk, Beth, Lachlan, Katherine L., Maloney, Viv K., Barber, John C. K.
Published in American journal of medical genetics. Part A (01.02.2018)
Published in American journal of medical genetics. Part A (01.02.2018)
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Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance
Barber, John C. K., Rosenfeld, Jill A., Graham, John M., Kramer, Nancy, Lachlan, Katherine L., Bateman, Mark S., Collinson, Morag N., Stadheim, Barbro Fossøy, Turner, Claire L. S., Gauthier, Jacqueline N., Reimschisel, Tyler E., Qureshi, Athar M., Dabir, Tabib A., Humphreys, Mervyn W., Marble, Michael, Huang, Taosheng, Beal, Sarah J., Massiah, Joanne, Taylor, Emma-Jane, Wynn, Sarah L.
Published in American journal of medical genetics. Part A (01.09.2015)
Published in American journal of medical genetics. Part A (01.09.2015)
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1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency
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Published in Genetics and molecular biology (01.07.2016)
Published in Genetics and molecular biology (01.07.2016)
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Clinical and radiographic delineation of odontochondrodysplasia
Unger, Sheila, Antoniazzi, Franco, Brugnara, Milena, Alanay, Yasemin, Caglayan, Ahmet, Lachlan, Katherine, Ikegawa, Shiro, Nishimura, Gen, Zabel, Bernhard, Spranger, Jürgen, Superti‐Furga, Andrea
Published in American journal of medical genetics. Part A (15.03.2008)
Published in American journal of medical genetics. Part A (15.03.2008)
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Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
Mester, Jessica L., Ghosh, Rajarshi, Pesaran, Tina, Huether, Robert, Karam, Rachid, Hruska, Kathleen S., Costa, Helio A., Lachlan, Katherine, Ngeow, Joanne, Barnholtz‐Sloan, Jill, Sesock, Kaitlin, Hernandez, Felicia, Zhang, Liying, Milko, Laura, Plon, Sharon E., Hegde, Madhuri, Eng, Charis
Published in Human mutation (01.11.2018)
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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
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Published in Nature genetics (01.09.2016)
Published in Nature genetics (01.09.2016)
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Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs
Laugsch, Magdalena, Bartusel, Michaela, Rehimi, Rizwan, Alirzayeva, Hafiza, Karaolidou, Agathi, Crispatzu, Giuliano, Zentis, Peter, Nikolic, Milos, Bleckwehl, Tore, Kolovos, Petros, van Ijcken, Wilfred F.J., Šarić, Tomo, Koehler, Katrin, Frommolt, Peter, Lachlan, Katherine, Baptista, Julia, Rada-Iglesias, Alvaro
Published in Cell stem cell (02.05.2019)
Published in Cell stem cell (02.05.2019)
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Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
Hall, Hildegard Nikki, Parry, David, Halachev, Mihail, Williamson, Kathleen A, Donnelly, Kevin, Campos Parada, Jose, Bhatia, Shipra, Joseph, Jeffrey, Holden, Simon, Prescott, Trine E, Bitoun, Pierre, Kirk, Edwin P, Newbury-Ecob, Ruth, Lachlan, Katherine, Bernar, Juan, van Heyningen, Veronica, FitzPatrick, David R, Meynert, Alison
Published in Journal of medical genetics (01.03.2024)
Published in Journal of medical genetics (01.03.2024)
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A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability
Jadhav, Bharati, Garg, Paras, van Vugt, Joke J F A, Ibanez, Kristina, Gagliardi, Delia, Lee, William, Shadrina, Mariya, Mokveld, Tom, Dolzhenko, Egor, Martin-Trujillo, Alejandro, Gies, Scott J, Altman, Gabrielle, Rocca, Clarissa, Barbosa, Mafalda, Jain, Miten, Lahiri, Nayana, Lachlan, Katherine, Houlden, Henry, Paten, Benedict, Veldink, Jan, Tucci, Arianna, Sharp, Andrew J
Published in Nature genetics (23.09.2024)
Published in Nature genetics (23.09.2024)
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New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies
Ceroni, Fabiola, Aguilera-Garcia, Domingo, Chassaing, Nicolas, Bax, Dorine Arjanne, Blanco-Kelly, Fiona, Ramos, Patricia, Tarilonte, Maria, Villaverde, Cristina, da Silva, Luciana Rodrigues Jacy, Ballesta-Martínez, Maria Juliana, Sanchez-Soler, Maria Jose, Holt, Richard James, Cooper-Charles, Lisa, Bruty, Jonathan, Wallis, Yvonne, McMullan, Dominic, Hoffman, Jonathan, Bunyan, David, Stewart, Alison, Stewart, Helen, Lachlan, Katherine, Fryer, Alan, McKay, Victoria, Roume, Joëlle, Dureau, Pascal, Saggar, Anand, Griffiths, Michael, Calvas, Patrick, Ayuso, Carmen, Corton, Marta, Ragge, Nicola K
Published in Human genetics (01.09.2019)
Published in Human genetics (01.09.2019)
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