Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome by Marina Araújo Fonzar Hernandes, Terezinha de Jesus Marques-Salles, Hasmik Mkrtchyan, Eliane Maria Soares-Ventura, Edinalva Pereira Leite, Maria Tereza Cartaxo Muniz, Maria Teresa Marquim Nogueira Cornélio, Thomas Liehr, Neide Santos, Maria Luiza Macedo Silva

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Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia by A. Zulfa Juniarto, Yvonne G. van der Zwan, Ardy Santosa, Remko Hersmus, Frank H. de Jong, Renske Olmer, Hennie T. Bruggenwirth, Axel P. N. Themmen, Katja P. Wolffenbuttel, Leendert H. J. Looijenga, Sultana M. H. Faradz, Stenvert L. S. Drop

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Mesenchymal stem cell‐derived exosomes mitigate amyloid β‐induced retinal toxicity: Insights from rat model and cellular studies by Amanda Qarawani, Efrat Naaman, Rony Ben‐Zvi Elimelech, Michal Harel, Shahaf Sigal‐Dror, Tali Ben‐Zur, Tamar Ziv, Daniel Offen, Shiri Zayit‐Soudry

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Wharton’s Jelly-Derived Mesenchymal Stromal Cells and Fibroblast-Derived Extracellular Matrix Synergistically Activate Apoptosis in a p21-Dependent Mechanism in WHCO1 and MDA MB 23... by Kevin Dzobo, Matjaz Vogelsang, Nicholas E. Thomford, Collet Dandara, Karlien Kallmeyer, Michael S. Pepper, M. Iqbal Parker

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Liver Transplant From a Deceased Donor With Cystinosis: A Case Report by Raeda Taj, Kim Ng, Sanmati R. Cuddapah, Elizabeth B. Rand, Melissa Bleicher, Sandra Amaral, Maarouf A. Hoteit, Rajendar K. Reddy, Eyob Feyssa, Emma E. Furth, Kim M. Olthoff, Samir Abu‐Gazala, Matthew H. Levine, Frederick Vyas, Peter L. Abt

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Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy by Mohammed Al-Owain, Namik Kaya, Hamad Al-Zaidan, Ibrahim Bin Hussain, Hadeel Al-Manea, Hindi Al-Hindi, Shelley Kennedy, M. Anwar Iqbal, Hamad Al-Mojalli, Albandary Al-Bakheet, Anne Puel, Jean-Laurent Casanova, Saleh Al-Muhsen

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Unusual hypertrophic cardiomyopathy: case report of an early onset wild-type ATTR amyloidosis accompanied by a chromosomal duplication involving the MYH6 and MYH7 gene by Jassin Hamidi, Yvonne Hanel, Sven Dittmann, Wanda Maria Gerding, Huu Phuc Nguyen, Karin Klingel, Eric Schulze-Bahr

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Caution when using network partners for target identification in drug discovery by Dandan Tan, Yiheng Chen, Yann Ilboudo, Kevin Y.H. Liang, Guillaume Butler-Laporte, J. Brent Richards

“…However, recent data indicate that leveraging human genetic evidence to identify and validate these targets significantly increases the likelihood of success in drug development. …”
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Biologically targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett’s esophagus and esophageal adenocarcinoma by Li Yan, Qianchuan He, Shiv P. Verma, Xu Zhang, Ann-Sophie Giel, Carlo Maj, Kathryn Graz, Elnaz Naderi, Jianhong Chen, Mourad Wagdy Ali, Puya Gharahkhani, Xiang Shu, Kenneth Offit, Pari M. Shah, Hans Gerdes, Daniela Molena, Amitabh Srivastava, Stuart MacGregor, Claire Palles, René Thieme, Michael Vieth, Ines Gockel, Thomas L. Vaughan, Johannes Schumacher, Matthew F. Buas

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Peroxisome Proliferator-Activated Receptors (PPARs) as Potential Inducers of Antineoplastic Effects in CNS Tumors by Lars Tatenhorst, Eric Hahnen, Michael T. Heneka

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Bicuspid Aortic Valve and Thoracic Aortic Aneurysm: Three Patient Populations, Two Disease Phenotypes, and One Shared Genotype by Robert B. Hinton

“…There are both distinct and overlapping developmental pathways that have been established to contribute to the formation of the aortic valve and the aortic root, and the mature anatomy of these different tissue types is intimately intertwined. Likewise, human genetics studies have established apparently separate and common contributions to these clinical phenotypes, suggesting complex inheritance and a shared genetic basis and translating 3 patient populations, namely, BAV, TAA, or both, into a common but diverse etiology. …”
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Familial Aggregation of Urinary Tract and Bone Tumors: Searching for a Syndrome by Andreas Frings, Jochen B. Geigl, Bernadette Liegl-Atzwanger, Andreas Leithner

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Pharmacogenetics of Risperidone and Cardiovascular Risk in Children and Adolescents by Amilton Dos Santos-Júnior, Taciane Barbosa Henriques, Maricilda Palandi de Mello, Osmar Henrique Della Torre, Lúcia Arisaka Paes, Adriana Perez Ferreira-Neto, Letícia Esposito Sewaybricker, Thiago Salum Fontana, Eloisa Helena Rubello Valler Celeri, Gil Guerra-Júnior, Paulo Dalgalarrondo

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Meeting Report on “10th Anniversary Symposium on Inflammatory Skin Disease” by Shirin Emtenani, John F. Baines, Katja Bieber, Evelyn Gaffal, Stephanie Goletz, Gema Hernández, Misa Hirose, Markus Hoffmann, Pascal Joly, Henriette Kirchner, Jörg Köhl, Sripriya Murthy, Sabrina Patzelt, Frank Petersen, Manuela Pigors, Gabriela Riemekasten, Leon F. Schmidt-Jiménez, Tanya Sezin, Malte Spielmann, Diamant Thaçi, Nina van Beek, Jens Waschke, Ralf J. Ludwig, Enno Schmidt

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Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases by Gerald Goh, Murim Choi

“…The recent advent of next-generation sequencing technologies has dramatically changed the nature of biomedical research. Human genetics is no exception-it has never been easier to interrogate human patient genomes at the nucleotide level to identify disease-associated variants. …”
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SDHAF2-Linked Metastatic Paraganglioma: A Case Report with Implications for Counseling and Follow-Up of Pathogenic SDHAF2 Variant Carriers by Monique A. M. de Jong, Eleonora P. M. Corssmit, Jeroen C. Jansen, Thomas P. Potjer, Jean-Pierre L. Bayley, Erik F. Hensen

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Genetics of Obesity and Type 2 Diabetes in African Americans by Shana McCormack, Struan F. A. Grant

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Comprehensive genomic surveillance reveals transmission profiles of extensively drug-resistant tuberculosis cases in Pará, Brazil by Davi Josué Marcon, Davi Josué Marcon, Abhinav Sharma, Alex Brito Souza, Alex Brito Souza, Rafaella Bonfim Barros, Valnete das Graças Dantas Andrade, Ricardo José de Paula Souza Guimarães, Luana Nepomuceno Gondim Lima, Luana Nepomuceno Gondim Lima, Lúcia Helena Martins Tavares Monteiro, Ana Judith Pires Garcia Quaresma, Ana Judith Pires Garcia Quaresma, Layana Rufino Ribeiro, Layana Rufino Ribeiro, Philip Noel Suffys, Robin Mark Warren, Carlos Augusto Abreu Alberio, Karla Valéria Batista Lima, Karla Valéria Batista Lima, Emilyn Costa Conceição

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A video intervention to improve patient understanding of tumor genomic testing in patients with cancer by Deloris J. Veney, Lai Y. Wei, Amanda E. Toland, Carolyn J. Presley, Heather L. Hampel, Tasleem J. Padamsee, Clara N. Lee, William J. Irvin Jr, Michael J. Bishop, James J. Kim, Shelly R. Hovick, Leigha A. Senter, Daniel G. Stover

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AI-based analysis of fetal growth restriction in a prospective obstetric cohort quantifies compound risks for perinatal morbidity and mortality and identifies previously unrecogniz... by Raquel M. Zimmerman, Edgar J. Hernandez, Mark Yandell, Martin Tristani-Firouzi, Robert M. Silver, William Grobman, David Haas, George Saade, Jonathan Steller, Nathan R. Blue

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