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BMC Medical Genetics|August 11, 2011
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1Anne Gregor, Beate Albrecht, Ingrid Bader, et al.Cell|May 12, 2015
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactionsDarío G Lupiáñez, Katerina Kraft, Verena Heinrich, et al.Arthritis & Rheumatology (Hoboken, N.J.)|June 13, 2017
Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's ArthropathyLuciana Martins de Carvalho, Gonza Ngoumou, Ji Woo Park, et al.Nature Genetics|March 4, 2003
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humansStephen P Robertson, Stephen R F Twigg, Andrew J Sutherland-Smith, et al.American Journal of Medical Genetics. Part A|July 17, 2009
Nicolaides-Baraitser syndrome: Delineation of the phenotypeSérgio B Sousa, Omar A Abdul-Rahman, Armand Bottani, et al.Genome Research|January 13, 2016
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and miceMalte Spielmann, Naseebullah Kakar, Naeimeh Tayebi, et al.American Journal of Human Genetics|January 21, 2014
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardationMalcolm F Howard, Yoshiko Murakami, Alistair T Pagnamenta, et al.Human Mutation|September 18, 2010
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficitsDenise Horn, Johannes Kapeller, Núria Rivera-Brugués, et al.Science Translational Medicine|September 5, 2014
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genomeTomasz Zemojtel, Sebastian Köhler, Luisa Mackenroth, et al.American Journal of Human Genetics|July 19, 2011
Faulty initiation of proteoglycan synthesis causes cardiac and joint defectsSevjidmaa Baasanjav, Lihadh Al-Gazali, Taishi Hashiguchi, et al.Pageof 17