Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder by Marya S. Sabir, Lynne Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl, Marjan Huizing, Frances M. Platt, May Christine V. Malicdan

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Variation in APOL1 Contributes to Ancestry-Level Differences in HDLc-Kidney Function Association by Amy Rebecca Bentley, Ayo P. Doumatey, Guanjie Chen, Hanxia Huang, Jie Zhou, Daniel Shriner, CongQing Jiang, Zhenjian Zhang, Guozheng Liu, Olufemi Fasanmade, Thomas Johnson, Johnnie Oli, Godfrey Okafor, Benjamin A. Eghan, Kofi Agyenim-Boateng, Jokotade Adeleye, Williams Balogun, Clement Adebamowo, Albert Amoah, Joseph Acheampong, Adebowale Adeyemo, Charles N. Rotimi

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CGH, cDNA and Tissue Microarray Analyses Implicate FGFR2 Amplification in a Small Subset of Breast Tumors by Mervi Heiskanen, Juha Kononen, Maarit Bärlund, Joachim Torhorst, Guido Sauter, Anne Kallioniemi, Olli Kallioniemi

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A dual role of Cohesin in DNA DSB repair by Michael Fedkenheuer, Yafang Shang, Seolkyoung Jung, Kevin Fedkenheuer, Solji Park, Davide Mazza, Robin Sebastian, Hiroyuki Nagashima, Dali Zong, Hua Tan, Sushil Kumar Jaiswal, Haiqing Fu, Anthony Cruz, Supriya V. Vartak, Jan Wisniewski, Vittorio Sartorelli, John J. O’Shea, Laura Elnitski, Andre Nussenzweig, Mirit I. Aladjem, Fei-Long Meng, Rafael Casellas

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Obstacles to Early Diagnosis of Gaucher Disease by Nishimura S, Ma C, Sidransky E, Ryan E

“…Samantha Nishimura,* Charis Ma,* Ellen Sidransky, Emory Ryan National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA*These authors contributed equally to this workCorrespondence: Ellen Sidransky, National Human Genome Research Institute, National Institutes of Health, Building 35A -1E623 Convent Drive, MSC 3708, Bethesda, MD, 20892-3708, USA, Tel +1-301-451-0901, Fax +301-402-6438, Email sidranse@nih.govAbstract: Gaucher disease (GD) is a rare lysosomal storage disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase caused by biallelic variants in the GBA1 gene. …”
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Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome) by Meltem Ozdemir-Karatas, Didem Ozdemir-Ozenen, P. Suzanne Hart, Thomas C. Hart

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ENCODE: A Sourcebook of Epigenomes and Chromatin Language by Maryam Yavartanoo, Jung Kyoon Choi

“…In April 2003, the National Human Genome Research Institute (NHGRI) launched an international research consortium called Encyclopedia of DNA Elements (ENCODE) to uncover non-coding functional elements in the human genome. …”
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Clinical Manifestations of Hemochromatosis in HFE C282Y Homozygotes Identified by Screening by Gordon D McLaren, Christine E McLaren, Paul C Adams, James C Barton, David M Reboussin, Victor R Gordeuk, Ronald T Acton, Emily L Harris, Mark R Speechley, Phyliss Sholinsky, Fitzroy W Dawkins, Beverly M Snively, Thomas M Vogt, John H Eckfeldt, for the Hemochromatosis and Iron Overload Screening (HEIRS) Study Research Investigators

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Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing by Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine Malicdan, David R. Adams, Undiagnosed Diseases Network, Sun‐Young Ahn, Debra S. Regier

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Harnessing genomic and bioinformatic data to broaden understanding of leukaemia across continents by Gumelar Gugun, Ulfa Mia Maria, Amukti Danang Prasetyaning, Irham Lalu Muhammad, Yuliani Sapto, Adikusuma Wirawan, Khairi Sabiah, Darmawi Darmawi, Chong Rockie, Ates Ilker, Singh Dilpreet, Chavan Aditya Ashok

“…Methods: This study used genome-wide association study (GWAS) data obtained from the National Human Genome Research Institute (NHGRI) to search for genomic variants associated with leukaemia. …”
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