Three Siblings With an Attenuated Presentation of Perlman Syndrome: A Case Report and Literature Review by Alayne P. Meyer, Daniel C. Koboldt, Swetha Ramadesikan, Kristin Zajo, Maria E. Hernandez Gonzalez, Anthony R. Miller, Douglas Depoorter, Catherine P. Comer, James I. Geller, Katherine Somers, Nilay Shah, Marco L. Leung

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Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes by Iftekhar A. Showpnil, Maria E. Hernandez Gonzalez, Swetha Ramadesikan, Mohammad Marhabaie, Allison Daley, Leeran Dublin-Ryan, Matthew T. Pastore, Umamaheswaran Gurusamy, Jesse M. Hunter, Brandon S. Stone, Dennis W. Bartholomew, Kandamurugu Manickam, Anthony R. Miller, Richard K. Wilson, Rolf W. Stottmann, Daniel C. Koboldt

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Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci. by Susan K Service, Tanya M Teslovich, Christian Fuchsberger, Vasily Ramensky, Pranav Yajnik, Daniel C Koboldt, David E Larson, Qunyuan Zhang, Ling Lin, Ryan Welch, Li Ding, Michael D McLellan, Michele O'Laughlin, Catrina Fronick, Lucinda L Fulton, Vincent Magrini, Amy Swift, Paul Elliott, Marjo-Riitta Jarvelin, Marika Kaakinen, Mark I McCarthy, Leena Peltonen, Anneli Pouta, Lori L Bonnycastle, Francis S Collins, Narisu Narisu, Heather M Stringham, Jaakko Tuomilehto, Samuli Ripatti, Robert S Fulton, Chiara Sabatti, Richard K Wilson, Michael Boehnke, Nelson B Freimer

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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS by Avinash V. Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah, Itaru Samejima, Yanwen Shen, Martin A. Wear, Kiara E. Moore, Elena Kondakova, Natalia Mitina, Theres Schaub, Grace K. Lee, Christine H. Umandap, Sara M. Berger, Alejandro D. Iglesias, Bernt Popp, Rami Abou Jamra, Heinz Gabriel, Stefan Rentas, Alyssa L. Rippert, Christopher Gray, Kosuke Izumi, Laura K. Conlin, Daniel C. Koboldt, Theresa Mihalic Mosher, Scott E. Hickey, Dara V. F. Albert, Haley Norwood, Amy Feldman Lewanda, Hongzheng Dai, Pengfei Liu, Tadahiro Mitani, Dana Marafi, Hatice Koçak Eker, Davut Pehlivan, Jennifer E. Posey, Natalie C. Lippa, Natalie Vena, Erin L. Heinzen, David B. Goldstein, Cyril Mignot, Jean-Madeleine de Sainte Agathe, Nouriya Abbas Al-Sannaa, Mina Zamani, Saeid Sadeghian, Reza Azizimalamiri, Tahere Seifia, Maha S. Zaki, Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, Lama Alabdi, Fowzan Sami Alkuraya, Heba Dawoud, Aya Lofty, Peter Bauer, Giovanni Zifarelli, Erum Afzal, Faisal Zafar, Stephanie Efthymiou, Daniel Gossett, Meghan C. Towne, Raey Yeneabat, Belen Perez-Duenas, Ana Cazurro-Gutierrez, Edgard Verdura, Veronica Cantarin-Extremera, Ana do Vale Marques, Aleksandra Helwak, David Tollervey, Sandeep N. Wontakal, Vimla S. Aggarwal, Jill A. Rosenfeld, Victor Tarabykin, Shinya Ohta, James R. Lupski, Henry Houlden, William C. Earnshaw, Erica E. Davis, A. Arockia Jeyaprakash, Jun Liao

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