PMC Links for Books (Select 5357112) - PMC

Select item 92928031.

Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome

Elizabeth A. VanSickle, Julianne Michael, André S. Bachmann, Surender Rajasekaran, Jeremy W. Prokop, Ruben Kuzniecky, Floris C. Hofstede, Katharina Steindl, Anita Rauch, Mark H. Lipson, Caleb P. Bupp

Am J Med Genet A. 2021 Nov; 185(11): 3485–3493. Published online 2021 Sep 3. doi: 10.1002/ajmg.a.62473

Correction in:: Am J Med Genet A. 2023 Jul; 191(7): 2003.

PMCID:: PMC9292803

Abstract Article PDF–1.8M

Select item 82919722.

Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease

Surender Rajasekaran, Caleb P Bupp, Mara Leimanis-Laurens, Ankit Shukla, Christopher Russell, Joseph Junewick, Emily Gleason, Elizabeth A VanSickle, Yvonne Edgerly, Bryan M Wittmann, Jeremy W Prokop, André S Bachmann

eLife. 2021; 10: e67097. Published online 2021 Jul 20. doi: 10.7554/eLife.67097

PMCID:: PMC8291972

Abstract Article PDF–1.6M

Select item 80644653.

Emerging Role of ODC1 in Neurodevelopmental Disorders and Brain Development

Jeremy W. Prokop, Caleb P. Bupp, Austin Frisch, Stephanie M. Bilinovich, Daniel B. Campbell, Daniel Vogt, Chad R. Schultz, Katie L. Uhl, Elizabeth VanSickle, Surender Rajasekaran, André S. Bachmann

Genes (Basel) 2021 Apr; 12(4): 470. Published online 2021 Mar 25. doi: 10.3390/genes12040470

PMCID:: PMC8064465

Abstract Article PDF–2.6M

Select item 78206214.

A dyadic approach to the delineation of diagnostic entities in clinical genomics

Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne R. Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian Chung, Robin D. Clark, Timothy C. Cox, Cynthia Curry, Mary Beth Palko Dinulos, William B. Dobyns, Philip F. Giampietro, Katta M. Girisha, Ian A. Glass, John M. Graham, Jr., Karen W. Gripp, Chad R. Haldeman-Englert, Bryan D. Hall, A. Micheil Innes, Jennifer M. Kalish, Kim M. Keppler-Noreuil, Kenjiro Kosaki, Beth A. Kozel, Ghayda M. Mirzaa, John J. Mulvihill, Malgorzata J.M. Nowaczyk, Roberta A. Pagon, Kyle Retterer, Alan F. Rope, Pedro A. Sanchez-Lara, Laurie H. Seaver, Joseph T. Shieh, Anne M. Slavotinek, Andrew K. Sobering, Cathy A. Stevens, David A. Stevenson, Tiong Yang Tan, Wen-Hann Tan, Anne C. Tsai, David D. Weaver, Marc S. Williams, Elaine Zackai, Yuri A. Zarate

Am J Hum Genet. 2021 Jan 7; 108(1): 8–15. Published online 2021 Jan 7. doi: 10.1016/j.ajhg.2020.11.013

PMCID:: PMC7820621

Abstract Article PDF–202K

Select item 75868435.

A subset analysis of a phase II trial evaluating the use of DFMO as maintenance therapy for high‐risk neuroblastoma

Elizabeth C. Lewis, Jacqueline M. Kraveka, William Ferguson, Don Eslin, Valerie I. Brown, Genevieve Bergendahl, William Roberts, Randal K. Wada, Javier Oesterheld, Deanna Mitchell, Jessica Foley, Peter Zage, Jawhar Rawwas, Maria Rich, Elizabeth Lorenzi, Kristine Broglio, Donald Berry, Giselle L. Saulnier Sholler

Int J Cancer. 2020 Dec 1; 147(11): 3152–3159. Published online 2020 May 24. doi: 10.1002/ijc.33044

PMCID:: PMC7586843

Abstract Article PDF–796K

Select item 47319256.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 45447537.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 44462108.

A Phase I Trial of DFMO Targeting Polyamine Addiction in Patients with Relapsed/Refractory Neuroblastoma

Giselle L. Saulnier Sholler, Eugene W. Gerner, Genevieve Bergendahl, Robert B. MacArthur, Alyssa VanderWerff, Takamaru Ashikaga, Jeffrey P. Bond, William Ferguson, William Roberts, Randal K. Wada, Don Eslin, Jacqueline M. Kraveka, Joel Kaplan, Deanna Mitchell, Nehal S. Parikh, Kathleen Neville, Leonard Sender, Timothy Higgins, Masao Kawakita, Kyoko Hiramatsu, Shun-suke Moriya, André S. Bachmann

PLoS One. 2015; 10(5): e0127246. Published online 2015 May 27. doi: 10.1371/journal.pone.0127246

PMCID:: PMC4446210

Abstract Article PDF–1.6M

Select item 40270589.

Polyamines and cancer: Implications for chemoprevention and chemotherapy

Shannon L. Nowotarski, Patrick M. Woster, Robert A. Casero, Jr.

Expert Rev Mol Med. Author manuscript; available in PMC 2014 May 20.

Published in final edited form as: Expert Rev Mol Med. 2013; 15: e3. Published online 2013 Feb 22. doi: 10.1017/erm.2013.3

PMCID:: PMC4027058

Abstract Article PDF–1.4M

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