Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.

Clin. Dysmorphol.     Periyasamy Radhakrishnan , Amita Moirangthem , Shalini S Nayak , Anju Shukla , Mary Mathew , Katta M Girisha

Risk prediction of pulmonary tuberculosis using genetic and conventional risk factors in adult Korean population.

PLoS One     Eun Pyo Hong , Min Jin Go , Hyung-Lae Kim , Ji Wan Park

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.

Hum. Mol. Genet.     D Sean Froese , Amit Michaeli , Thomas J McCorvie , Tobias Krojer , Meitav Sasi , Esther Melaev , Amiram Goldblum , Maria Zatsepin , Alexander Lossos , Rafael Álvarez , Pablo V Escribá , Berge A Minassian , Frank von Delft , Or Kakhlon , Wyatt W Yue

Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase.

J. Neurochem.     Or Kakhlon , Hava Glickstein , Naomi Feinstein , Yan Liu , Otto Baba , Tatsuo Terashima , Hasan Orhan Akman , Salvatore Dimauro , Alexander Lossos

In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.

Proteomics     Simona Principe , E Ellen Jones , Yunee Kim , Ankit Sinha , Julius O Nyalwidhe , Jasmin Brooks , O John Semmes , Dean A Troyer , Raymond S Lance , Thomas Kislinger , Richard R Drake

Single fiber analyses of glycogen-related proteins reveal their differential association with glycogen in rat skeletal muscle.

Am J Physiol Cell Physiol     Robyn M Murphy , Hongyang Xu , Heidy Latchman , Noni T Larkins , Paul R Gooley , David I Stapleton

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.

Brief. Bioinformatics     Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas

Large-scale proteomics and phosphoproteomics of urinary exosomes.

J. Am. Soc. Nephrol.     Patricia A Gonzales , Trairak Pisitkun , Jason D Hoffert , Dmitry Tchapyjnikov , Robert A Star , Robert Kleta , Nam Sun Wang , Mark A Knepper

Identification and analysis of plasticity-induced late-response genes.

Proc. Natl. Acad. Sci. U.S.A.     Suk Jin Hong , Huiwu Li , Kevin G Becker , Valina L Dawson , Ted M Dawson

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.

Proc. Natl. Acad. Sci. U.S.A.     Robert L Strausberg , Elise A Feingold , Lynette H Grouse , Jeffery G Derge , Richard D Klausner , Francis S Collins , Lukas Wagner , Carolyn M Shenmen , Gregory D Schuler , Stephen F Altschul , Barry Zeeberg , Kenneth H Buetow , Carl F Schaefer , Narayan K Bhat , Ralph F Hopkins , Heather Jordan , Troy Moore , Steve I Max , Jun Wang , Florence Hsieh , Luda Diatchenko , Kate Marusina , Andrew A Farmer , Gerald M Rubin , Ling Hong , Mark Stapleton , M Bento Soares , Maria F Bonaldo , Tom L Casavant , Todd E Scheetz , Michael J Brownstein , Ted B Usdin , Shiraki Toshiyuki , Piero Carninci , Christa Prange , Sam S Raha , Naomi A Loquellano , Garrick J Peters , Rick D Abramson , Sara J Mullahy , Stephanie A Bosak , Paul J McEwan , Kevin J McKernan , Joel A Malek , Preethi H Gunaratne , Stephen Richards , Kim C Worley , Sarah Hale , Angela M Garcia , Laura J Gay , Stephen W Hulyk , Debbie K Villalon , Donna M Muzny , Erica J Sodergren , Xiuhua Lu , Richard A Gibbs , Jessica Fahey , Erin Helton , Mark Ketteman , Anuradha Madan , Stephanie Rodrigues , Amy Sanchez , Michelle Whiting , Anup Madan , Alice C Young , Yuriy Shevchenko , Gerard G Bouffard , Robert W Blakesley , Jeffrey W Touchman , Eric D Green , Mark C Dickson , Alex C Rodriguez , Jane Grimwood , Jeremy Schmutz , Richard M Myers , Yaron S N Butterfield , Martin I Krzywinski , Ursula Skalska , Duane E Smailus , Angelique Schnerch , Jacqueline E Schein , Steven J M Jones , Marco A Marra , Mammalian Gene Collection Program Team