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

Get full text

Optimized methods for scRNA-seq and snRNA-seq of skeletal muscle stored in nucleic acid stabilizing preservative by Elisabeth F. Heuston, Ayo P. Doumatey, Faiza Naz, Shamima Islam, Stacie Anderson, Martha R. Kirby, Stephen Wincovitch, Stefania Dell’Orso, Charles N. Rotimi, Adebowale A. Adeyemo

Get full text

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

Get full text

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

Get full text

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

Get full text

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. …”
Get full text

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

Get full text

Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome by Kerry Morrone, Yanhua Wang, Marjan Huizing, Elie Sutton, James G. White, William A. Gahl, Karen Moody

Get full text

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. …”
Get full text

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

Get full text

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

Get full text

Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease by Hongling Zhu, Y. Terry Lee, Colleen Byrnes, Jabili Angina, Danielle A. Springer, Galina Tuymetova, Mari Kono, Cynthia J. Tifft, Richard L. Proia

Get full text

“Equity” in genomic health policies: a review of policies in the international arena by Prabhathi Basnayake Ralalage, Prabhathi Basnayake Ralalage, Tala Mitchell, Claire Zammit, Gareth Baynam, Gareth Baynam, Emma Kowal, Libby Masey, Julie McGaughran, Tiffany Boughtwood, Misty Jenkins, Gregory Pratt, Angeline Ferdinand

“…In addition, General and Specific Policy Repositories, Global Consortia in Genomic Medicine, WHO Collaborating Centers in Genomics, Australian Genomics, Public Policy Projects, Global Genomic Medicine Consortium (G2MC), G2MC conference Oct 2023 and National Human Genome Research Institute databases were searched using the inclusion and exclusion criteria. …”
Get full text

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. …”
Get full text