PMC Links for GEO Profiles (Select 112545444) - PMC

Select item 68175601.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Pamela Magini, Daphne J. Smits, Laura Vandervore, Rachel Schot, Marta Columbaro, Esmee Kasteleijn, Mees van der Ent, Flavia Palombo, Maarten H. Lequin, Marjolein Dremmen, Marie Claire Y. de Wit, Mariasavina Severino, Maria Teresa Divizia, Pasquale Striano, Natalia Ordonez-Herrera, Amal Alhashem, Ahmed Al Fares, Malak Al Ghamdi, Arndt Rolfs, Peter Bauer, Jeroen Demmers, Frans W. Verheijen, Martina Wilke, Marjon van Slegtenhorst, Peter J. van der Spek, Marco Seri, Anna C. Jansen, Rolf W. Stottmann, Robert B. Hufnagel, Robert J. Hopkin, Deema Aljeaid, Wojciech Wiszniewski, Pawel Gawlinski, Milena Laure-Kamionowska, Fowzan S. Alkuraya, Hanah Akleh, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Maha S. Zaki, Nicola Brunetti-Pierri, Gerarda Cappuccio, Bella Davidov, Lina Basel-Salmon, Lily Bazak, Noa Ruhrman Shahar, Aida Bertoli-Avella, Ghayda M. Mirzaa, William B. Dobyns, Tommaso Pippucci, Maarten Fornerod, Grazia M.S. Mancini

Am J Hum Genet. 2019 Oct 3; 105(4): 689–705. Published online 2019 Sep 5. doi: 10.1016/j.ajhg.2019.08.006

PMCID:: PMC6817560

Article PDF–3.1M

Select item 65507882.

Identification of new transmembrane proteins concentrated at the nuclear envelope using organellar proteomics of mesenchymal cells

Li-Chun Cheng, Sabyasachi Baboo, Cory Lindsay, Liza Brusman, Salvador Martinez-Bartolomé, Olga Tapia, Xi Zhang, John R. Yates, III, Larry Gerace

Nucleus. 2019; 10(1): 126–143. Published online 2019 May 29. doi: 10.1080/19491034.2019.1618175

PMCID:: PMC6550788

Article PDF–3.9M

Select item 51596223.

Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice

Robert Wilson, Stefan H. Geyer, Lukas Reissig, Julia Rose, Dorota Szumska, Emily Hardman, Fabrice Prin, Christina McGuire, Ramiro Ramirez-Solis, Jacqui White, Antonella Galli, Catherine Tudor, Elizabeth Tuck, Cecilia Icoresi Mazzeo, James C. Smith, Elizabeth Robertson, David J. Adams, Timothy Mohun, Wolfgang J. Weninger

Version 2. Wellcome Open Res. 2016; 1: 1. Published online 2017 Feb 27. doi: 10.12688/wellcomeopenres.9899.2

PMCID:: PMC5159622

Article PDF–7.4M

Select item 31780594.

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

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

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Article PDF–1.0M

Select item 26425925.

Neutral Sphingomyelinase-3 Is a DNA Damage and Nongenotoxic Stress-Regulated Gene That Is Deregulated in Human Malignancies

Chad A. Corcoran, Qin He, Suriyan Ponnusamy, Besim Ogretmen, Ying Huang, M. Saeed Sheikh

Mol Cancer Res. Author manuscript; available in PMC 2009 May 1.

Published in final edited form as: Mol Cancer Res. 2008 May; 6(5): 795–807. doi: 10.1158/1541-7786.MCR-07-2097

PMCID:: PMC2642592

Article PDF–1.4M

Select item 1392416.

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

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Article PDF–118K

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