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Citations to this Journal [151 citations: 1–100 of 144 articles]

Articles published in Case Reports in Genetics have been cited 151 times. The following is a list of the 144 articles that have cited the articles published in Case Reports in Genetics.

  • Andrea C. Yu, Regina M. Zambrano, Ingrid Cristian, Sue Price, Birgitta Bernhard, Marc Zucker, Sunita Venkateswaran, Jean McGowan-Jordan, and Christine M. Armour, “Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?,” American Journal of Medical Genetics Part A, 2017. View at Publisher · View at Google Scholar
  • Rita Fischetto, Orazio Palumbo, Federica Ortolani, Pietro Palumbo, Maria Pia Leone, Francesco Andrea Causio, Sabino Pesce, Maria Christina Digilio, Massimo Carella, and Francesco Papadia, “Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.,” American Journal of Medical Genetics Part A, 2017. View at Publisher · View at Google Scholar
  • Colleen Keen, Carole Samango-Sprouse, Holly Dubbs, and Elaine H. Zackai, “ 10-year-old female with intragenic KANSL1 mutation, no KANSL1 -related intellectual disability, and preserved verbal intelligence ,” American Journal of Medical Genetics Part A, vol. 173, no. 3, pp. 762–765, 2017. View at Publisher · View at Google Scholar
  • Melanie Lacaria, Myriam Srour, Jacques L. Michaud, Asif Doja, Elka Miller, Jeremy Schwartzentruber, Claire Goldsmith, Jacek Majewski, and Kym M. Boycott, “Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet,” American Journal of Medical Genetics Part A, 2017. View at Publisher · View at Google Scholar
  • Vera Riehmer, Florian Erger, Peter Herkenrath, Saskia Seland, Miriam Jackels, Alfred Wiater, Raoul Heller, Bodo B. Beck, and Christian Netzer, “ A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome ,” American Journal of Medical Genetics Part A, 2017. View at Publisher · View at Google Scholar
  • Yao Yao, Edith Jones, and Ken Inoki, “Lysosomal Regulation of mTORC1 by Amino Acids in Mammalian Cells,” Biomolecules, vol. 7, no. 3, pp. 51, 2017. View at Publisher · View at Google Scholar
  • Fátima Lopes, Gabriela Soares, Miguel Gonçalves-Rocha, Jorge Pinto-Basto, and Patrícia Maciel, “Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease,” Frontiers in Genetics, vol. 8, 2017. View at Publisher · View at Google Scholar
  • Yihong Ye, Wai Kwan Tang, Ting Zhang, and Di Xia, “A Mighty ?Protein Extractor? of the Cell: Structure and Function of the p97/CDC48 ATPase,” Frontiers in Molecular Biosciences, vol. 4, 2017. View at Publisher · View at Google Scholar
  • Marta Frigeni, Bijina Balakrishnan, Xue Yin, Fernanda R.O. Calderon, Rong Mao, Marzia Pasquali, and Nicola Longo, “Functional and molecular studies in primary carnitine deficiency,” Human Mutation, 2017. View at Publisher · View at Google Scholar
  • Cyrille Robert, Laurent Pasquier, David Cohen, Mélanie Fradin, Roberto Canitano, Léna Damaj, Sylvie Odent, and Sylvie Tordjman, “Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy,” International Journal of Molecular Sciences, vol. 18, no. 3, pp. 618, 2017. View at Publisher · View at Google Scholar
  • Huma Tariq, Shahid Mukhtar, and Sadaf Naz, “ A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysis ,” Journal of Neurogenetics, pp. 1–4, 2017. View at Publisher · View at Google Scholar
  • Thomas Arbogast, Giovanni Iacono, Claire Chevalier, Nurudeen O. Afinowi, Xander Houbaert, Matthijs C. van Eede, Christine Laliberte, Marie-Christine Birling, Katrin Linda, Hamid Meziane, Mohammed Selloum, Tania Sorg, Nael Nadif Kasri, David A. Koolen, Henk G. Stunnenberg, R. Mark Henkelman, Maksym Kopanitsa, Yann Humeau, Bert B. A. De Vries, and Yann Herault, “Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition,” PLOS Genetics, vol. 13, no. 7, pp. e1006886, 2017. View at Publisher · View at Google Scholar
  • Tanja Schlaikjaer Hartwig, Louise Ambye, Steen Sørensen, and Finn Stener Jørgensen, “Discordant non-invasive prenatal testing (NIPT) - a systematic review,” Prenatal Diagnosis, 2017. View at Publisher · View at Google Scholar
  • Inna E. Pristyazhnyuk, and Aleksei G. Menzorov, “Ring chromosomes: from formation to clinical potential,” Protoplasma, 2017. View at Publisher · View at Google Scholar
  • Luis E. León, Felipe Benavides, Karena Espinoza, Cecilia Vial, Patricia Alvarez, Mirta Palomares, Guillermo Lay-Son, Macarena Miranda, and Gabriela M. Repetto, “Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients,” Scientific Reports, vol. 7, no. 1, 2017. View at Publisher · View at Google Scholar
  • Agatha Cristhina Faria, Eliete Rabbi-Bortolini, Maria R. G. O. Reboucas, Andreia L. A. de S. Thiago Pereira, Milena G. Tonini Frasson, Rodrigo Atique, Naila Cristina V. Lourenco, Carla Rosenberg, Gerson S. Kobayashi, Maria Rita Passos-Bueno, and Flavia Imbroisi Valle Errera, “Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?,” American Journal Of Medical Genetics Part A, vol. 170, no. 2, pp. 403–409, 2016. View at Publisher · View at Google Scholar
  • Giulia Severi, Laura Bernardini, Silvana Briuglia, Stefania Bigoni, Barbara Buldrini, Pamela Magini, Maria L. Dentici, Duccio M. Cordelli, Teresa Arrigo, Emilio Franzoni, Sergio Fini, Eleonora Italyankina, Italia Loddo, Antonio Novelli, and Claudio Graziano, “New Patients with Temple Syndrome Caused by 14q32 Deletion: Genotype-Phenotype Correlations and Risk of Thyroid Cancer,” American Journal Of Medical Genetics Part A, vol. 170, no. 1, pp. 162–169, 2016. View at Publisher · View at Google Scholar
  • Sener Tasdemir, Ibrahim Sahin, Atilla Cayir, Ihsan Yuce, Serdar Ceylaner, and Abdulgani Tatar, “Vici Syndrome in Siblings Born to Consanguineous Parents,” American Journal Of Medical Genetics Part A, vol. 170, no. 1, pp. 220–225, 2016. View at Publisher · View at Google Scholar
  • Donghwi Park, Ju Seok Ryu, and Ki-Jeong Kim, “Compression of Root Level in a Patient with Hereditary Neuropathy with Liability to Pressure Palsy Diagnosed by Magnetic Resonance Imaging,” American Journal of Physical Medicine & Rehabilitation, vol. 95, no. 9, pp. e140–e144, 2016. View at Publisher · View at Google Scholar
  • Suk Yu Yau, Christine Chiu, Mariana Vetrici, and Brian R. Christie, “Chronic minocycline treatment improves social recognition memory in adult male Fmr1 knockout mice,” Behavioural Brain Research, 2016. View at Publisher · View at Google Scholar
  • Layla Damasceno Espirito Santo, Lília Maria Azevedo Moreira, and Mariluce Riegel, “Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients,” BioMed Research International, vol. 2016, pp. 1–9, 2016. View at Publisher · View at Google Scholar
  • Syuan-Yu Hong, I-Ching Chou, Wei-De Lin, and Fuu-Jen Tsai, “A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes,” BioMedicine, vol. 6, no. 4, 2016. View at Publisher · View at Google Scholar
  • Susan Byrne, Lara Jansen, Jean-Marie U-King-Im, Ata Siddiqui, Hart G. W. Lidov, Istvan Bodi, Luke Smith, Rachael Mein, Thomas Cullup, Carlo Dionisi-Vici, Lihadh Al-Gazali, Mohammed Al-Owain, Zandre Bruwer, Khalid Al Thihli, Rana El-Garhy, Kevin M. Flanigan, Kandamurugu Manickam, Erik Zmuda, Wesley Banks, Ruth Gershoni-Baruch, Hanna Mandel, Efrat Dagan, Annick Raas-Rothschild, Hila Barash, Francis Filloux, Donnell Creel, Michael Harris, Ada Hamosh, Stefan Koelker, Darius Ebrahimi-Fakhari, Georg F. Hoffmann, David Manchester, Philip J. Boyer, Adnan Y. Manzur, Charles Marques Lourenco, Daniela T. Pilz, Arveen Kamath, Prab Prabhakar, Vamshi K. Rao, R. Curtis Rogers, Monique M. Ryan, Natasha J. Brown, Catriona A. McLean, Edith Said, Ulrike Schara, Anja Stein, Caroline Sewry, Laura Travan, Frits A. Wijburg, Martin Zenker, Shehla Mohammed, Manolis Fanto, Mathias Gautel, and Heinz Jungbluth, “EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy,” Brain, vol. 139, pp. 765–781, 2016. View at Publisher · View at Google Scholar
  • Darius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, Jenny Lu, Susan Byrne, Georg F. Hoffmann, Heinz Jungbluth, and Mustafa Sahin, “Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism,” Brain, vol. 139, pp. 317–337, 2016. View at Publisher · View at Google Scholar
  • Trupti Kale, and Melissa Philip, “An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly,” Case Reports in Genetics, vol. 2016, pp. 1–5, 2016. View at Publisher · View at Google Scholar
  • Yang Cao, Nicole L. Hoppman, Sarah E. Kerr, Christopher A. Sattler, Kristi S. Borowski, Myra J. Wick, W. Edward Highsmith, and Umut Aypar, “False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13,” Case Reports in Genetics, vol. 2016, pp. 1–5, 2016. View at Publisher · View at Google Scholar
  • G.C. Dworschak, C. Crétolle, A. Hilger, H. Engels, E. Korsch, H. Reutter, and M. Ludwig, “ Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2 ,” Clinical Genetics, 2016. View at Publisher · View at Google Scholar
  • Toshiyuki Yamamoto, Naru Igarashi, Keiko Shimojima, Noriko Sangu, Yuko Sakamoto, Kazuaki Shimoji, and Shinichi Niijima, “Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1,” Congenital Anomalies, vol. 56, no. 2, pp. 91–93, 2016. View at Publisher · View at Google Scholar
  • D. Dubois-Laforgue, C. Bellanné-Chantelot, P. Charles, A. Jacquette, E. Larger, C. Ciangura, C. Saint-Martin, C. Rastel, B. Keren, and J. Timsit, “Intellectual disability in patients with MODY due to hepatocyte nuclear factor 1B (HNF1B) molecular defects,” Diabetes & Metabolism, 2016. View at Publisher · View at Google Scholar
  • Federica Natacci, Enrico Alfei, Lucia Tarara, Stefano D'Arrigo, Orsetta Zuffardi, Barbara Gentilin, and Chiara Pantaleoni, “Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum,” European Journal Of Paediatric Neurology, vol. 20, no. 1, pp. 183–187, 2016. View at Publisher · View at Google Scholar
  • Elliot Murphy, and Antonio Benítez-Burraco, “Bridging the Gap between Genes and Language Deficits in Schizophrenia: An Oscillopathic Approach,” Frontiers in Human Neuroscience, vol. 10, 2016. View at Publisher · View at Google Scholar
  • Wai Kwan Tang, and Di Xia, “Mutations in the Human AAA+ Chaperone p97 and Related Diseases,” Frontiers in Molecular Biosciences, vol. 3, 2016. View at Publisher · View at Google Scholar
  • Chariyawan Charalsawadi, Jariya Khayman, Verayuth Praphanphoj, and Pornprot Limprasert, “Screening for Subtelomeric Rearrangements in Thai Patients with Intellectual Disabilities Using FISH and Review of Literature on Subtelomeric FISH in 15,591 Cases with Intellectual Disabilities,” Genetics Research International, vol. 2016, pp. 1–13, 2016. View at Publisher · View at Google Scholar
  • Przemyslaw Szafranski, Tomasz Gambin, Avinash V. Dharmadhikari, Kadir Caner Akdemir, Shalini N. Jhangiani, Jennifer Schuette, Nihal Godiwala, Svetlana A. Yatsenko, Jessica Sebastian, Suneeta Madan-Khetarpal, Urvashi Surti, Rosanna G. Abellar, David A. Bateman, Ashley L. Wilson, Melinda H. Markham, Jill Slamon, Fernando Santos-Simarro, María Palomares, Julián Nevado, Pablo Lapunzina, Brian Hon-Yin Chung, Wai-Lap Wong, Yoyo Wing Yiu Chu, Gary Tsz Kin Mok, Eitan Kerem, Joel Reiter, Namasivayam Ambalavanan, Scott A. Anderson, David R. Kelly, Joseph Shieh, Taryn C. Rosenthal, Kristin Scheible, Laurie Steiner, M. Anwar Iqbal, Margaret L. McKinnon, Sara Jane Hamilton, Kamilla Schlade-Bartusiak, Dawn English, Glenda Hendson, Elizabeth R. Roeder, Thomas S. DeNapoli, Rebecca Okashah Littlejohn, Daynna J. Wolff, Carol L. Wagner, Alison Yeung, David Francis, Elizabeth K. Fiorino, Morris Edelman, Joyce Fox, Denise A. Hayes, Sandra Janssens, Elfride De Baere, Björn Menten, Anne Loccufier, Lieve Vanwalleghem, Philippe Moerman, Yves Sznajer, Amy S. Lay, Jennifer L. Kussmann, Jasneek Chawla, Diane J. Payton, Gael E. Phillips, Erwin Brosens, Dick Tibboel, Annelies de Klein, Isabelle Maystadt, Richard Fisher, Neil Sebire, Alison Male, Maya Chopra, Jason Pinner, Girvan Malcolm, Gregory Peters, Susan Arbuckle, Melissa Lees, Zoe Mead, Oliver Quarrell, Richard Sayers, Martina Owens, Charles Shaw-Smith, Janet Lioy, Eileen McKay, Nicole de Leeuw, Ilse Feenstra, Liesbeth Spruijt, Frances Elmslie, Timothy Thiruchelvam, Carlos A. Bacino, Claire Langston, James R. Lupski, Partha Sen, Edwina Popek, and Paweł Stankiewicz, “Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins,” Human Genetics, 2016. View at Publisher · View at Google Scholar
  • Sitthichai Panyasai, and Sakorn Pornprasert, “Detection of Hemoglobin New York [β113 (G15) Val→Glu, GTG>GAG] in a Thai Woman by Capillary Electrophoresis,” Indian Journal of Hematology and Blood Transfusion, 2016. View at Publisher · View at Google Scholar
  • Andrew Ligsay, and Randi J Hagerman, “Review of targeted treatments in fragile X syndrome,” Intractable & Rare Diseases Research, 2016. View at Publisher · View at Google Scholar
  • Wilmar Saldarriaga, Fabian Andres Ruiz, Flora Tassone, and Randi Hagerman, “Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report,” Journal of Applied Research in Intellectual Disabilities, 2016. View at Publisher · View at Google Scholar
  • Marie de Boutray, Jean-Luc Beziat, Jacques Yachouh, Michèle Bigorre, Arnaud Gleizal, and Guillaume Captier, “Median cleft of the upper lip: A new classification to guide treatment decisions,” Journal of Cranio-Maxillofacial Surgery, 2016. View at Publisher · View at Google Scholar
  • Madita Schumann, Andrea Hofmann, Sophia K. Krutzke, Alina C. Hilger, Florian Marsch, Dietlinde Stienen, Ulrich Gembruch, Michael Ludwig, Waltraut M. Merz, and Heiko Reutter, “Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs,” Journal Of Neurodevelopmental Disorders, vol. 8, 2016. View at Publisher · View at Google Scholar
  • Yoshio Shima, and Makoto Migita, “Prenatal Detection of Peters' Plus Syndrome in a Patient with No Known Family History,” Journal of Nippon Medical School, vol. 83, no. 3, pp. 130–132, 2016. View at Publisher · View at Google Scholar
  • Stephanie L. Prothro, Erin Plosa, Melinda Markham, Przemyslaw Szafranski, Pawel Stankiewicz, and Stacy A. S. Killen, “Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins,” Journal Of Pediatrics, vol. 170, pp. 317–318, 2016. View at Publisher · View at Google Scholar
  • Agessandro Abrahao, Wladimir Bocca Vieira de Rezende, Osório Abath Neto, Edmar Zanoteli, Bibiana Santos, Fernando Kok, Orlando Graziani Povoas Barsottini, Acary Souza Bulle Oliveira, and José Luiz Pedroso, “One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia,” Journal of the Neurological Sciences, 2016. View at Publisher · View at Google Scholar
  • Ana Claudia Latronico, Vinicius Nahime Brito, and Jean-Claude Carel, “Causes, diagnosis, and treatment of central precocious puberty,” Lancet Diabetes & Endocrinology, vol. 4, no. 3, pp. 265–274, 2016. View at Publisher · View at Google Scholar
  • Hong Yan Liu, Jia Huang, Tao Li, Dong Wu, Hong Dan Wang, Yue Wang, Tao Wang, Liang Jie Guo, Qian Nan Guo, Fei Fei Huang, Rui Li Wang, and Ying Tai Wang, “Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations,” Molecular Cytogenetics, vol. 9, 2016. View at Publisher · View at Google Scholar
  • Cathrine Jespersgaard, Ida N. Damgaard, Nanna Cornelius, Iben Bache, Niels Knabe, Maria J. Miranda, and Zeynep Tumer, “Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium,” Molecular Cytogenetics, vol. 9, 2016. View at Publisher · View at Google Scholar
  • Sanjukta Mukherjee, Chikara Dohno, Kaori Asano, and Kazuhiko Nakatani, “Cyclic mismatch binding ligand CMBL4 binds to the 5′-T-3′/5′-GG-3′ site by inducing the flipping out of thymine base,” Nucleic Acids Research, pp. gkw672, 2016. View at Publisher · View at Google Scholar
  • Syed A. Khurram, Jemel Sultan-Khan, Neil Atkey, and Paul M. Speight, “Cytogenetic and immunohistochemical characterization of Mammary Analogue Secretory Carcinoma of salivary glands,” Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2016. View at Publisher · View at Google Scholar
  • Susan Byrne, Carlo Dionisi-Vici, Luke Smith, Mathias Gautel, and Heinz Jungbluth, “Vici syndrome: a review,” Orphanet Journal of Rare Diseases, vol. 11, no. 1, 2016. View at Publisher · View at Google Scholar
  • Holly L. Snyder, Kirsten J. Curnow, Sucheta Bhatt, and Diana W. Bianchi, “Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling,” Prenatal Diagnosis, vol. 36, no. 3, pp. 203–209, 2016. View at Publisher · View at Google Scholar
  • Monica Fernández Pineda, Julián Ramírez-Cheyne, Carolina Isaza, and Wilmar Saldarriaga, “Un caso de deleción parcial 1p36.1 y trisomía parcial 6p diagnosticadas por cariotipo,” Revista Chilena de Pediatría, 2016. View at Publisher · View at Google Scholar
  • Anitha Saminathan, Prabhu, and Indhumathi Nagarathinam, “A case of dic (1:15) (p11;p11) with t(9:22)(q34:q11) in B-ALL,” Acta Medica International, vol. 2, no. 2, pp. 189, 2015. View at Publisher · View at Google Scholar
  • Guillaume Jedraszak, Benedicte Demeer, Michele Mathieu-Dramard, Joris Andrieux, Aline Receveur, Astrid Weber, Una Maye, Nicola Foulds, I. K. Temple, John Crolla, Marie-Pierre Alex-Cordier, Damien Sanlaville, Lisa Ewans, Meredith Wilson, Ruth Armstrong, Amanda Clarkson, Henri Copin, and Gilles Morin, “Clinical and Molecular Characterization of the 20q11.2 Microdeletion Syndrome: Six New Patients,” American Journal Of Medical Genetics Part A, vol. 167A, no. 3, pp. 504–511, 2015. View at Publisher · View at Google Scholar
  • Dae-Hyun Jang, Hyojin Chae, and Myungshin Kim, “Autistic and Rett-Like Features Associated with 2q33.3-q34 Interstitial Deletion,” American Journal Of Medical Genetics Part A, vol. 167, no. 9, pp. 2213–2218, 2015. View at Publisher · View at Google Scholar
  • Leif Hommers, Annette Raab, Alexandra Bohl, Heike Weber, Claus-Juergen Scholz, Angelika Erhardt, Elisabeth Binder, Volker Arolt, Alexander Gerlach, Andrew Gloster, Raffael Kalisch, Tilo Kircher, Tina Lonsdorf, Andreas Stroehle, Peter Zwanzger, Manuel Mattheisen, Sven Cichon, Klaus-Peter Lesch, Katharina Domschke, Andreas Reif, Martin J. Lohse, and Juergen Deckert, “MicroRNA hsa-miR-4717-5p regulates RGS2 and may be a risk factor for anxiety-related traits,” American Journal Of Medical Genetics Part B-Neuropsychiatric Genetics, vol. 168, no. 4, pp. 296–306, 2015. View at Publisher · View at Google Scholar
  • Vrisha Madhuri, Mona Santhanam, Legasri K. Sugumar, Karthikeyan Rajagopal, and Sanjay K. Chilbule, “Classical and Atypical Fibrodysplasia Ossificans Progressiva in India,” Annals Of Human Genetics, vol. 79, no. 4, pp. 245–252, 2015. View at Publisher · View at Google Scholar
  • Gulden Diniz, H. Tekgul, F. Hazan, K. Yararbas, and A. Tukun, “Sarcolemmal Deficiency of Sarcoglycan Complex in an 18-Month-Old Turkish Boy with a Large Deletion in the Beta Sarcoglycan Gene,” Balkan Journal of Medical Genetics, vol. 18, no. 2, 2015. View at Publisher · View at Google Scholar
  • Wenwen Zhang, Min Zhou, Cheng Liu, Chen Liu, Tong Qiao, Dian Huang, Feng Ran, Wei Wang, Changjian Liu, and Zhao Liu, “ A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome ,” BioMed Research International, vol. 2015, pp. 1–6, 2015. View at Publisher · View at Google Scholar
  • Whitney A. Neufeld-Kaiser, Edith Y. Cheng, and Yajuan J. Liu, “Positive predictive value of non-invasive prenatal screening for fetal chromosome disorders using cell-free DNA in maternal serum: independent clinical experience of a tertiary referral center,” BMC Medicine, vol. 13, no. 1, 2015. View at Publisher · View at Google Scholar
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  • George A. Tanteles, Elpiniki Nikolaou, Yiolanda Christou, Angelos Alexandrou, Paola Evangelidou, Violetta Christophidou-Anastasiadou, Carolina Sismani, and Savvas S. Papacostas, “ Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3 ,” Case Reports in Genetics, vol. 2015, pp. 1–5, 2015. View at Publisher · View at Google Scholar
  • R. Hochstenbach, G. C. M. L. Page-Christiaens, A. C. C. van Oppen, K. D. Lichtenbelt, J. J. T. van Harssel, T. Brouwer, G. T. R. Manten, P. van Zon, M. Elferink, K. Kusters, O. Akkermans, J. K. Ploos van Amstel, and G. H. Schuring-Blom, “Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18,” Case Reports in Genetics, vol. 2015, pp. 1–7, 2015. View at Publisher · View at Google Scholar
  • Xingbo Xu, Ingeborg Friehs, Tachi Zhong Hu, Ivan Melnychenko, Bjoern Tampe, Fouzi Alnour, Maria Iascone, Raghu Kalluri, Michael Zeisberg, Pedro J. del Nido, and Elisabeth M. Zeisberg, “Endocardial Fibroelastosis Is Caused by Aberrant Endothelial to Mesenchymal Transition,” Circulation Research, vol. 116, no. 5, pp. 857–866, 2015. View at Publisher · View at Google Scholar
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  • Maria del Refugio Rivera-Vega, Luis A. Gomez-del Angel, Juan M. Valdes-Miranda, Adrian Perez-Cabrera, Luz M. Gonzalez-Huerta, Jaime Toral-Lopez, and Sergio Cuevas-Covarrubias, “A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism,” Cytogenetic And Genome Research, vol. 145, no. 1, pp. 1–5, 2015. View at Publisher · View at Google Scholar
  • Ali J. Chakera, Anna M. Steele, Anna L. Gloyn, Maggie H. Shepherd, Beverley Shields, Sian Ellard, and Andrew T. Hattersley, “Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation,” Diabetes Care, vol. 38, no. 7, pp. 1383–1392, 2015. View at Publisher · View at Google Scholar
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  • Alexandra Tsigginou, Fotios Vlachopoulos, Iordanis Arzimanoglou, Flora Zagouri, and Constantine Dimitrakakis, “Cumulative BRCA mutation analysis in the Greek population confirms that homogenous ethnic background facilitates genetic testing,” Hereditary Cancer In Clinical Practice, vol. 13, 2015. View at Publisher · View at Google Scholar
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