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Szakszon, Katalin; Lourenco, Charles Marques; Callewaert, Bert Louis; Geneviève, David; Rouxel, Flavien; Morin, Denis; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Patterson, Wesley; Louie, Raymond; Pinto E Vairo, Filippo; Klee, Eric; Kaiwar, Charu; Gavrilova, Ralitza H; Agre, Katherine E; Jacquemont, Sebastien; Khadijé, Jizi; Giltay, Jacques; van Gassen, Koen; Merő, Gabriella; ... (2024). Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations. Journal of medical genetics, 61(2), pp. 132-141. BMJ Publishing Group 10.1136/jmg-2022-109030
Morison, Lottie D; Meffert, Elisabeth; Stampfer, Miriam; Steiner-Wilke, Irene; Vollmer, Brigitte; Schulze, Katrin; Briggs, Tracy; Braden, Ruth; Vogel, Adam; Thompson-Lake, Daisy; Patel, Chirag; Blair, Edward; Goel, Himanshu; Turner, Samantha; Moog, Ute; Riess, Angelika; Liegeois, Frederique; Koolen, David A; Amor, David J; Kleefstra, Tjitske; ... (2023). In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2. Journal of medical genetics, 60(6), pp. 597-607. BMJ Publishing Group 10.1136/jmg-2022-108734
Di Lazzaro Filho, Ricardo; Yamamoto, Guilherme Lopes; Silva, Tiago J; Rocha, Leticia A; Linnenkamp, Bianca D W; Castro, Matheus Augusto Araújo; Bartholdi, Deborah; Schaller, André; Leeb, Tosso; Kelmann, Samantha; Utagawa, Claudia Y; Steiner, Carlos E; Steinmetz, Leandra; Honjo, Rachel Sayuri; Kim, Chong Ae; Wang, Lisa; Abourjaili-Bilodeau, Raphaël; Campeau, Philippe; Warman, Matthew; Passos-Bueno, Maria Rita; ... (2023). Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of medical genetics, 60(11), pp. 1127-1132. BMJ Publishing Group 10.1136/jmg-2022-109119
Hebert, Robyn; Cullinan, Noelle; Armstrong, Linlea; Blood, Katherine A; Brossard, Josee; Brunga, Ledia; Cacciotti, Chantel; Caswell, Kimberly; Cellot, Sonia; Coltin, Hallie; Deyell, Rebecca J; Felton, Kathleen; Fernandez, Conrad V; Fleming, Adam J; Gibson, Paul; Hammad, Rawan; Jabado, Nada; Johnston, Donna L; Lafay-Cousin, Lucie; Larouche, Valérie; ... (2023). Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes. Journal of medical genetics, 60(12), pp. 1218-1223. BMJ Publishing Group 10.1136/jmg-2023-109376
Salikhanov, Islam; Heinimann, Karl; Chappuis, Pierre; Buerki, Nicole; Graffeo, Rossella; Heinzelmann, Viola; Rabaglio, Manuela; Taborelli, Monica; Wieser, Simon; Katapodi, Maria C (2022). Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives. Journal of medical genetics, 59(9), pp. 924-930. BMJ Publishing Group 10.1136/jmedgenet-2021-108062
Guerrini-Rousseau, Léa; Masliah-Planchon, Julien; Waszak, Sebastian M; Alhopuro, Pia; Benusiglio, Patrick R; Bourdeaut, Franck; Brecht, Ines B; Del Baldo, Giada; Dhanda, Sandeep Kumar; Garrè, Maria Luisa; Gidding, Corrie E M; Hirsch, Steffen; Hoarau, Pauline; Jorgensen, Mette; Kratz, Christian; Lafay-Cousin, Lucie; Mastronuzzi, Angela; Pastorino, Lorenza; Pfister, Stefan M; Schroeder, Christopher; ... (2022). Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group. Journal of medical genetics, 59(11), pp. 1123-1132. BMJ Publishing Group 10.1136/jmedgenet-2021-108385
Schalk, Audrey; Cousin, Margot A; Dsouza, Nikita R; Challman, Thomas D; Wain, Karen E; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washington, Camerun; Louie, Ray; Lanpher, Brendan C; ... (2021). De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. Journal of medical genetics, 59(10), pp. 965-975. BMJ Publishing Group 10.1136/jmedgenet-2021-107751
Schossig, Anna; Bloch-Zupan, Agnès; Lussi, Adrian; Wolf, Nicole I; Raskin, Salmo; Cohen, Monika; Giuliano, Fabienne; Jurgens, Julie; Krabichler, Birgit; Koolen, David A; de Macena Sobreira, Nara Lygia; Maurer, Elisabeth; Muller-Bolla, Michèle; Penzien, Johann; Zschocke, Johannes; Kapferer-Seebacher, Ines (2017). SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. Journal of medical genetics, 54(1), pp. 54-62. BMJ Publishing Group 10.1136/jmedgenet-2016-103988
Damseh, Nadirah; Simonin, Alexandre; Jalas, Chaim; Picoraro, Joseph A; Shaag, Avraham; Cho, Megan T; Yaacov, Barak; Neidich, Julie; Al-Ashhab, Motee; Juusola, Jane; Bale, Sherri; Telegrafi, Aida; Retterer, Kyle; Pappas, John G; Moran, Ellen; Cappell, Joshua; Anyane Yeboa, Kwame; Abu-Libdeh, Bassam; Hediger, Matthias; Chung, Wendy K; ... (2015). Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. Journal of medical genetics, 52(8), pp. 541-547. BMJ Publishing Group 10.1136/jmedgenet-2015-103104
Jackson, Christopher; Nuoffer, Jean-Marc; Hahn, Dagmar Karen; Prokisch, Holger; Haberberger, Birgit; Gautschi, Matthias; Haeberli, Annemarie; Gallati, Sabina; Schaller, André (2013). Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. Journal of medical genetics, 51(3), pp. 170-175. BMJ Publishing Group 10.1136/jmedgenet-2013-101932
Kousi, Maria; Anttila, Verneri; Schulz, Angela; Calafato, Stella; Jakkula, Eveliina; Riesch, Erik; Myllykangas, Liisa; Kalimo, Hannu; Topçu, Meral; Gökben, Sarenur; Alehan, Fusun; Lemke, Johannes R; Alber, Michael; Palotie, Aarno; Kopra, Outi; Lehesjoki, Anna-Elina (2012). Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. Journal of medical genetics, 49(6), pp. 391-9. London: BMJ Publishing Group 10.1136/jmedgenet-2012-100859
Zufferey, F; Sherr, E H; Beckmann, N D; Hanson, E; Maillard, A M; Hippolyte, L; Mace, A; Ferrari, C; Kutalik, Z; Andrieux, J; Aylward, E; Barker, M; Bernier, R; Bouquillon, S; Conus, P; Delobel, B; Faucett, W A; Goin-Kochel, R P; Grant, E; Harewood, L; ... (2012). A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Journal of medical genetics, 49(10), pp. 660-8. London: BMJ Publishing Group 10.1136/jmedgenet-2012-101203
Bruno, D L; Ganesamoorthy, D; Schoumans, J; Bankier, A; Coman, D; Delatycki, M; Gardner, R J M; Hunter, M; James, P A; Kannu, P; McGillivray, G; Pachter, N; Peters, H; Rieubland, C; Savarirayan, R; Scheffer, I E; Sheffield, L; Tan, T; White, S M; Yeung, A; ... (2009). Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice. Journal of medical genetics, 46(2), pp. 123-31. London: BMJ Publishing Group 10.1136/jmg.2008.062604
Stanke, F; Ballmann, M; Bronsveld, I; Dörk, T; Gallati, S; Laabs, U; Derichs, N; Ritzka, M; Posselt, H-G; Harms, H K; Griese, M; Blau, H; Mastella, G; Bijman, J; Veeze, H; Tümmler, B (2008). Diversity of the basic defect of homozygous CFTR mutation genotypes in humans. Journal of medical genetics, 45(1), pp. 47-54. London: BMJ Publishing Group 10.1136/jmg.2007.053561
Cremers, Frans P M; Kimberling, William J; Külm, Maigi; de Brouwer, Arjan P; van Wijk, Erwin; te Brinke, Heleen; Cremers, Cor W R J; Hoefsloot, Lies H; Banfi, Sandro; Simonelli, Francesca; Fleischhauer, Johannes C; Berger, Wolfgang; Kelley, Phil M; Haralambous, Elene; Bitner-Glindzicz, Maria; Webster, Andrew R; Saihan, Zubin; De Baere, Elfride; Leroy, Bart P; Silvestri, Giuliana; ... (2007). Development of a genotyping microarray for Usher syndrome. Journal of medical genetics, 44(2), pp. 153-60. London: BMJ Publishing Group 10.1136/jmg.2006.044784
Helou, Juliana; Otto, Edgar A; Attanasio, Massimo; Allen, Susan J; Parisi, Melissa A; Glass, Ian; Utsch, Boris; Hashmi, Seema; Fazzi, Elisa; Omran, Heymut; O'Toole, John F; Sayer, John A; Hildebrandt, Friedhelm (2007). Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. Journal of medical genetics, 44(10), pp. 657-63. London: BMJ Publishing Group 10.1136/jmg.2007.052027
