S. South's Profile

Role	Title	Level	Year	L/R
🐜	Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) 13 auth. E. Riggs, Erica F Andersen, A. Cherry, S. Kantarci, H. Kearney, Ankita Patel, G. Raca, D. Ritter, S. South, E. Thorland, ... D. Pineda-Alvarez, S. Aradhya, C. Martin	9	2019	9 🐜
🐢	American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants H. Kearney, E. Thorland, Kerry K. Brown, F. Quintero-Rivera, S. South	9	2011	9 🐢
🐜	An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities 35 auth. E. B. Kaminsky, V. Kaul, J. Paschall, D. Church, B. Bunke, Dawn Kunig, D. Moreno-De-Luca, A. Moreno-De-Luca, J. Mulle, S. Warren, G. Richard, J. Compton, A. Fuller, Troy J. Gliem, Shuwen Huang, ... M. Collinson, Sarah J. Beal, Todd Ackley, D. Pickering, D. Golden, E. Aston, H. Whitby, S. Shetty, M. Rossi, M. K. Rudd, S. South, A. Brothman, W. Sanger, R. Iyer, J. Crolla, E. Thorland, S. Aradhya, David H. Ledbetter, David H. Ledbetter, C. Martin	8	2011	8 🐜
🦁	ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013 S. South, Charles Lee, A. Lamb, A. Higgins, H. Kearney	8	2013	8 🦁
🐬	Pex19 Binds Multiple Peroxisomal Membrane Proteins, Is Predominantly Cytoplasmic, and Is Required for Peroxisome Membrane Synthesis K. Sacksteder, Jacob M. Jones, S. South, Xiaoling Li, Yifei Liu, S. Gould	8	2000	8 🐬
🐜	Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. 32 auth. A. Rope, Kai Wang, R. Evjenth, Jinchuan Xing, J. Johnston, J. Swensen, J. Swensen, W. Johnson, B. Moore, C. Huff, L. Bird, J. Carey, John M. Opitz, C. Stevens, T. Jiang, ... Christa Schank, H. Fain, Reid J. Robison, B. Dalley, S. Chin, S. South, S. South, T. Pysher, L. Jorde, H. Hakonarson, J. Lillehaug, L. Biesecker, M. Yandell, T. Arnesen, T. Arnesen, G. Lyon, G. Lyon	7	2011	7 🐜
🐜	Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. 32 auth. A. Rope, Kai Wang, R. Evjenth, Jinchuan Xing, J. Johnston, J. Swensen, J. Swensen, W. Johnson, B. Moore, C. Huff, L. Bird, J. Carey, John M. Opitz, C. Stevens, T. Jiang, ... Christa Schank, H. Fain, Reid J. Robison, B. Dalley, S. Chin, S. South, S. South, T. Pysher, L. Jorde, H. Hakonarson, J. Lillehaug, L. Biesecker, M. Yandell, T. Arnesen, T. Arnesen, G. Lyon, G. Lyon	7	2011	7 🐜
🦁	Peroxisome Synthesis in the Absence of Preexisting Peroxisomes S. South, S. Gould	7	1999	7 🦁
🐜	Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome. 13 auth. P. Kahlem, M. Sultan, R. Herwig, M. Steinfath, Daniela Balzereit, Barbara Eppens, Nidhi G. Saran, M. Pletcher, S. South, G. Stetten, ... H. Lehrach, R. Reeves, M. Yaspo	7	2004	7 🐜
🐜	Loss of B Cells in Patients with Heterozygous Mutations in IKAROS. 31 auth. H. Kuehn, B. Boisson, C. Cunningham-Rundles, J. Reichenbach, A. Stray-Pedersen, E. Gelfand, Patrick Maffucci, Keith R. Pierce, J. Abbott, K. Voelkerding, S. South, N. Augustine, Jeana S. Bush, W. Dolen, B. Wray, ... Y. Itan, A. Cobat, H. Sorte, S. Ganesan, S. Prader, T. Martins, M. Lawrence, Jordan S. Orange, K. Calvo, J. Niemela, J. Casanova, T. Fleisher, Harry R. Hill, Attila Kumánovics, M. Conley, S. Rosenzweig	7	2016	7 🐜
🦁	Inhibitors of Copi and Copii Do Not Block PEX3-Mediated Peroxisome Synthesis S. South, K. Sacksteder, Xiaoling Li, Yifei Liu, S. Gould	7	2000	7 🦁
🐜	Metabolic control of peroxisome abundance. 7 auth. Chia Che Chang, S. South, Daniel E. Warren, Jacob M. Jones, A. Moser, H. Moser, ... Stephen J. Gould	7	1999	7 🐜