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Citations to this Journal [35 citations: 35 articles]

Articles published in Case Reports in Genetics have been cited 35 times. The following is a list of the 35 articles that have cited the articles published in Case Reports in Genetics.

  • Tara L. Wenger, Margaret Harr, Stefania Ricciardi, Elizabeth Bhoj, Avni Santani, Margaret P. Adam, Sarah S. Barnett, Rebecca Ganetzky, Donna M. McDonald-McGinn, Domenica Battaglia, Stefania Bigoni, Angelo Selicorni, Giovanni Sorge, Matteo Della Monica, Francesca Mari, Elena Andreucci, Silvia Romano, Guido Cocchi, Salvatore Savasta, Baris Malbora, Giuseppe Marangi, Livia Garavelli, Marcella Zollino, and Elaine H. Zackai, “CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases,” American Journal of Medical Genetics Part A, vol. 164, no. 10, pp. 2557–2566, 2014. View at Publisher · View at Google Scholar
  • Aslihan Akpinar, and Nermin Ersoy, “Attitudes of physicians and patients towards disclosure of genetic information to spouse and first-degree relatives: a case study from Turkey,” Bmc Medical Ethics, vol. 15, 2014. View at Publisher · View at Google Scholar
  • K. M. Usrey, C. A. Williams, M. Dasouki, L. C. Fairbrother, and M. G. Butler, “Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?,” Case Reports in Genetics, vol. 2014, pp. 1–3, 2014. View at Publisher · View at Google Scholar
  • Roberto L. P. Mazzaschi, Juliet Taylor, Stephen P. Robertson, Donald R. Love, and Alice M. George, “A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker,” Case Reports in Genetics, vol. 2014, pp. 1–5, 2014. View at Publisher · View at Google Scholar
  • Xiaomeng Ren, Vladimir Ustiyan, Arun Pradhan, Yuqi Cai, Jamie A. Havrilak, Craig S. Bolte, John M. Shannon, Tanya V. Kalin, and Vladimir V. Kalinichenko, “FOXF1 Transcription Factor Is Required for Formation of Embryonic Vasculature by Regulating VEGF Signaling in Endothelial Cells,” Circulation Research, vol. 115, no. 8, pp. 709–+, 2014. View at Publisher · View at Google Scholar
  • Mert Turgal, Ozgur Ozyuncu, G. Eda Utine, Esra Kilic, and Koray Boduroglu, “Prenatal diagnosis in a fetus with de-novo 20q11.2q13.1 deletion and review of the literature,” Clinical Dysmorphology, vol. 23, no. 3, pp. 111–113, 2014. View at Publisher · View at Google Scholar
  • Chiara Verpelli, Ivan Galimberti, Baltazar Gomez-Mancilla, and Carlo Sala, “Molecular Basis for Prospective Pharmacological Treatment Strategies in Intellectual Disability Syndromes,” Developmental Neurobiology, vol. 74, no. 2, pp. 197–206, 2014. View at Publisher · View at Google Scholar
  • Pedro Rodenas-Cuadrado, and Joses Ho, “Shining a light on CNTNAP2: complex functions to complex disorders,” European Journal of Human Genetics, vol. 22, no. 2, pp. 171–178, 2014. View at Publisher · View at Google Scholar
  • Nuria Seto-Salvia, and Philip Stanier, “Genetics of cleft lip and/or cleft palate: Association with other common anomalies,” European Journal of Medical Genetics, vol. 57, no. 8, pp. 381–393, 2014. View at Publisher · View at Google Scholar
  • Erwin Brosens, Mirjam Ploeg, Yolande van Bever, Anna E. Koopmans, Hanneke IJsselstijn, Robbert J. Rottier, Rene Wijnen, Dick. Tibboel, and Annelies de Klein, “Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies,” European Journal of Medical Genetics, 2014. View at Publisher · View at Google Scholar
  • Andrea L. McGinley, Yanyang Li, Zane Deliu, and Q. Tian Wang, “Additional Sex Combs-Like Family Genes Are Required for Normal Cardiovascular Development,” Genesis, vol. 52, no. 7, pp. 671–686, 2014. View at Publisher · View at Google Scholar
  • Rachel L. Gillespie, I. Christopher Lloyd, and Graeme C. M. Black, “The Use of Autozygosity Mapping and Next-Generation Sequencing in Understanding Anterior Segment Defects Caused by an Abnormal Development of the Lens,” Human Heredity, vol. 77, no. 1-4, pp. 118–137, 2014. View at Publisher · View at Google Scholar
  • Randi J. Hagerman, Vincent Des-Portes, Fabrizio Gasparini, Sebastien Jacquemont, and Baltazar Gomez-Mancilla, “Translating Molecular Advances in Fragile X Syndrome Into Therapy: A Review,” Journal of Clinical Psychiatry, vol. 75, no. 4, pp. E294–E307, 2014. View at Publisher · View at Google Scholar
  • Reut Barak, Roxane Lahmi, Lada Gevorkyan-Airapetov, Eliad Levy, and Amit Tzur, “Crystal structure of the extracellular juxtamembrane region of Robo1,” Journal of Structural Biology, vol. 186, no. 2, pp. 283–291, 2014. View at Publisher · View at Google Scholar
  • Yun-Kai Dai, Yue Ma, Keng Chen, Ya-Jing Mi, Hua-Lin Fu, Da-Xiang Cui, and Wei-Lin Jin, “A link between the nuclear-localized srGAP3 and the SWI/SNF chromatin remodeler Brg1,” Molecular and Cellular Neuroscience, vol. 60, pp. 10–25, 2014. View at Publisher · View at Google Scholar
  • Reymundo Lozano, Emma B. Hare, and Randi J. Hagerman, “Modulation of the GABAergic pathway for the treatment of fragile X syndrome,” Neuropsychiatric Disease and Treatment, vol. 10, pp. 1769–1778, 2014. View at Publisher · View at Google Scholar
  • Douglas R. Stewart, Alexander Pemov, Jennifer J. Johnston, Julie C. Sapp, Meredith Yeager, Ji He, Joseph F. Boland, Laurie Burdett, Christina Brown, Richard A. Gatti, Blanche P. Alter, Leslie G. Biesecker, and Sharon A. Savage, “Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders,” Plos One, vol. 9, no. 6, 2014. View at Publisher · View at Google Scholar
  • Ly Yan LiYing, Y Wei Yuan, J Huang Jin, Xh Zhu XiaoHui, Xd Shi XiaoDan, X Xia Xi, J Yan Jie, Cl Lu CuiLing, Y Lian Ying, R Li Rong, P Liu Ping, and J Qiao Jie, “Advances in preimplantation genetic diagnosis/screening,” Science China-Life Sciences, vol. 57, no. 7, pp. 665–671, 2014. View at Publisher · View at Google Scholar
  • Audra L. Bettinelli, Theodorus J. Mulder, Birgit H. Funke, Katherine A. Lafferty, Sherri A. Longo, and Dmitriy M. Niyazov, “ Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation ,” American Journal of Medical Genetics Part A, 2013. View at Publisher · View at Google Scholar
  • Hongyu Zhao, Huayu Sun, and Hong Zhang, “Role of Epg5 in selective neurodegeneration and Vici syndrome,” Autophagy, vol. 9, no. 8, pp. 1258–1262, 2013. View at Publisher · View at Google Scholar
  • H. Morsy Abd Elkader, and E. M. Abdalla, “Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome,” Clinical Genetics, vol. 84, no. 3, pp. 300–301, 2013. View at Publisher · View at Google Scholar
  • Denise Cook, Erin Nuro, and Keith K. Murai, “Increasing our understanding of human cognition through the study of fragile X syndrome,” Developmental Neurobiology, 2013. View at Publisher · View at Google Scholar
  • G. Thanabalasingham, S. Ellard, K. Colclough, F. Talbot, K. R. Owen, K. Kaur, A. Mathews, and J. Taylor, “Atypical phenotype associated with reported GCK exon 10 deletions: clinical judgement is needed alongside appropriate genetic investigations,” Diabetic Medicine, vol. 30, no. 8, pp. E233–E238, 2013. View at Publisher · View at Google Scholar
  • Thomas Cullup, Carlo Dionisi-Vici, Ay L Kho, Shu Yau, Shehla Mohammed, Mathias Gautel, and Heinz Jungbluth, “Clinical utility gene card for: Vici syndrome,” European Journal of Human Genetics, 2013. View at Publisher · View at Google Scholar
  • Dorothée C. van Trier, Ilse Feenstra, Petra Bot, Nicole de Leeuw, and Jos M.Th. Draaisma, “Cardiac Anomalies in Individuals with the 18q Deletion Syndrome. Report of a Child with Ebstein Anomaly and Review of the Literature,” European Journal of Medical Genetics, 2013. View at Publisher · View at Google Scholar
  • Hamid Kalantari, Tahereh Madani, Shabnam Zari Moradi, Zahra Mansouri, Navid Almadani, Hamid Gourabi, and Anahita Mohseni Meybodi, “Cytogenetic analysis of 179 Iranian women with premature ovarian failure,” Gynecological Endocrinology, vol. 29, no. 6, pp. 588–591, 2013. View at Publisher · View at Google Scholar
  • Charles Shaw-Smith, Rosa Laura van Loon, Cecilia Hagman, Yves Sznajer, Catherine Barrea, Christine Galant, Thierry Detaille, Jennifer A. Wambach, F. Sessions Cole, Aaron Hamvas, Lawrence S. Prince, Karin E. M. Diderich, Alice S. Brooks, Robert M. Verdijk, Hari Ravindranathan, Ella Sugo, David Mowat, Michael L. Baker, Claire Langston, Stephen Welty, Pawel Stankiewicz, Partha Sen, Yaping Yang, Colby Navarro, Iris Silva, Przemyslaw Szafranski, Katarzyna E. Kolodziejska, Avinash V. Dharmadhikari, Hasnaa Mostafa, Harry Kozakewich, Debra Kearney, John B. Cahill, Merrissa Whitt, Masha Bilic, Linda Margraf, Adrian Charles, Jack Goldblatt, Kathleen Gibson, Patrick E. Lantz, A. Julian Garvin, John Petty, Zeina Kiblawi, Craig Zuppan, Allyn McConkie-Rosell, Marie T. McDonald, Stacey L. Peterson-Carmichael, Jane T. Gaede, Binoy Shivanna, Deborah Schady, Philippe S. Friedlich, Stephen R. Hays, Irene Valenzuela Palafoll, Ulrike Siebers-Renelt, Axel Bohring, Laura S. Finn, Joseph R. Siebert, Csaba Galambos, Lananh Nguyen, Melissa Riley, Nicolas Chassaing, Adeline Vigouroux, Gustavo Rocha, Susana Fernandes, Jane Brumbaugh, Kari Roberts, Hm Luk Ho-ming, Ivan F. M. Lo, Stephen Lam, Romana Gerychova, Marta Jezova, Iveta Valaskova, Florence Fellmann, Katayoun Afshar, Eric Giannoni, Vincent Muhlethaler, Jinlong Liang, Jacques S. Beckmann, Janet Lioy, Hitesh Deshmukh, Lakshmi Srinivasan, Daniel T. Swarr, and Melissa Sloman, “Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain,” Human Mutation, vol. 34, no. 6, pp. 801–811, 2013. View at Publisher · View at Google Scholar
  • Elizabeth A. Worthey, Gordana Raca, Jennifer J. Laffin, Brandon M. Wilk, Jeremy M. Harris, Kathy J. Jakielski, David P. Dimmock, Edythe A. Strand, and Lawrence D. Shriberg, “Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech,” Journal of Neurodevelopmental Disorders, vol. 5, 2013. View at Publisher · View at Google Scholar
  • Il Hwan Kim, Bence Racz, Hong Wang, Lauren Burianek, Richard Weinberg, Ryohei Yasuda, William C. Wetsel, and Scott H. Soderling, “Disruption of Arp2/3 Results in Asymmetric Structural Plasticity of Dendritic Spines and Progressive Synaptic and Behavioral Abnormalities,” Journal Of Neuroscience, vol. 33, no. 14, pp. 6081–6092, 2013. View at Publisher · View at Google Scholar
  • Jason W. Bohland, Emma M. Myers, and Esther Kim, “An Informatics Approach to Integrating Genetic and Neurological Data in Speech and Language Neuroscience,” Neuroinformatics, 2013. View at Publisher · View at Google Scholar
  • L.E. Dansie, K. Phommahaxay, A.G. Okusanya, J. Uwadia, M. Huang, S.E. Rotschafer, K.A. Razak, D.W. Ethell, and I.M. Ethell, “Long-lasting effects of minocycline on behavior in young but not adult Fragile X mice,” Neuroscience, vol. 246, pp. 186–198, 2013. View at Publisher · View at Google Scholar
  • Yue Ma, Ya-Jing Mi, Yun-Kai Dai, Hua-Lin Fu, Da-Xiang Cui, and Wei-Lin Jin, “The Inverse F-BAR Domain Protein srGAP2 Acts through srGAP3 to Modulate Neuronal Differentiation and Neurite Outgrowth of Mouse Neuroblastoma Cells,” Plos One, vol. 8, no. 3, 2013. View at Publisher · View at Google Scholar
  • Michelle A. Wood, “Genomic Markers of Ovarian Reserve,” Seminars in Reproductive Medicine, vol. 31, no. 6, pp. 399–415, 2013. View at Publisher · View at Google Scholar
  • Eero Castren, Ype Elgersma, Lamberto Maffei, and Randi Hagerman, “Treatment of Neurodevelopmental Disorders in Adulthood,” Journal of Neuroscience, vol. 32, no. 41, pp. 14074–14079, 2012. View at Publisher · View at Google Scholar
  • Ersan Kalay, Orhan Sezgin, Vasant Chellappa, Mehmet Mutlu, Heba Morsy, Hulya Kayserili, Elmar Kreiger, Aysegul Cansu, Bayram Toraman, Ebtesam Mohammed Abdalla, Yakup Aslan, Shiv Pillai, and Nurten A. Akarsu, “Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome,” The American Journal of Human Genetics, vol. 90, no. 1, pp. 76–85, 2012. View at Publisher · View at Google Scholar