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DNA methylation episignature in Gabriele-de Vries syndrome.
Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D, Monin P, Odent S, Philippe C, Rouxel F, Saletti V, Strømme P, Thulin PC, Sadikovic B, Genevieve D. Cherik F, et al. Among authors: bak m. Genet Med. 2022 Apr;24(4):905-914. doi: 10.1016/j.gim.2021.12.003. Epub 2022 Jan 10. Genet Med. 2022. PMID: 35027293 Free article.
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.
Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, Kirchhoff M, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp CA, Isidor B, Le Caignec C, Zannolli R, Mucciolo M, Renieri A, Mari F, Anderlid BM, Andrieux J, Dieux A, Tommerup N, Bache I. Halgren C, et al. Among authors: bak m. Clin Genet. 2012 Sep;82(3):248-55. doi: 10.1111/j.1399-0004.2011.01755.x. Epub 2011 Aug 24. Clin Genet. 2012. PMID: 21801163 Free PMC article.
Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases.
Aristidou C, Theodosiou A, Bak M, Mehrjouy MM, Constantinou E, Alexandrou A, Papaevripidou I, Christophidou-Anastasiadou V, Skordis N, Kitsiou-Tzeli S, Tommerup N, Sismani C. Aristidou C, et al. Among authors: bak m. PLoS One. 2018 Oct 5;13(10):e0205298. doi: 10.1371/journal.pone.0205298. eCollection 2018. PLoS One. 2018. PMID: 30289920 Free PMC article.
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nöthen MM, Bennett EP, Maeda Y, Aigner M, Reis A, Kinoshita T, Tommerup N, Baig SM, Abou Jamra R. Hansen L, et al. Among authors: bak m. Am J Hum Genet. 2013 Apr 4;92(4):575-83. doi: 10.1016/j.ajhg.2013.03.008. Am J Hum Genet. 2013. PMID: 23561846 Free PMC article.
Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.
Rasmussen MB, Nielsen JV, Lourenço CM, Melo JB, Halgren C, Geraldi CV, Marques W Jr, Rodrigues GR, Thomassen M, Bak M, Hansen C, Ferreira SI, Venâncio M, Henriksen KF, Lind-Thomsen A, Carreira IM, Jensen NA, Tommerup N. Rasmussen MB, et al. Among authors: bak m. J Med Genet. 2014 Sep;51(9):605-13. doi: 10.1136/jmedgenet-2014-102535. Epub 2014 Jul 25. J Med Genet. 2014. PMID: 25062845
Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.
Halgren C, Nielsen NM, Nazaryan-Petersen L, Silahtaroglu A, Collins RL, Lowther C, Kjaergaard S, Frisch M, Kirchhoff M, Brøndum-Nielsen K, Lind-Thomsen A, Mang Y, El-Schich Z, Boring CA, Mehrjouy MM, Jensen PKA, Fagerberg C, Krogh LN, Hansen J, Bryndorf T, Hansen C, Talkowski ME, Bak M, Tommerup N, Bache I. Halgren C, et al. Among authors: bak m. Am J Hum Genet. 2018 Jun 7;102(6):1090-1103. doi: 10.1016/j.ajhg.2018.04.005. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805044 Free PMC article.
670 results