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Links from MedGen

Items: 19

1.
Srimmitha Balachandar, Tamara J. Graves, Anika Shimonty, Katie Kerr, Jill Kilner, Sihao Xiao, Richard Slade, Manveer Sroya, Mary Alikian, Emanuel Curetean, Ellen Thomas, Vivienne P. M. McConnell, Shane McKee, Freya Boardman-Pretty, Andrew Devereau, Tom A. Fowler, Mark J. Caulfield, Eric W. Alton, Teena Ferguson, Julian Redhead, Amy J. McKnight, Geraldine A. Thomas, Genomics England Research Consortium, Micheala A. Aldred, Claire L. Shovlin
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2022 Mar; 188(3): 959–964. Published online 2021 Dec 13. doi: 10.1002/ajmg.a.62584
PMCID:
PMC9939255
2.
Gerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando, Cristina Peduto, Iris Scala, Michele Pinelli, Emanuele Bellacchio, Flavio Gioele Gallo, Adriano Magli, Carmen Plaitano, Mercedes Serrano, Leticia Pías, Jaume Català, Mercè Bolasell, Annalaura Torella, Vincenzo Nigro, Ginevra Zanni, Nicola Brunetti‐Pierri
Am J Med Genet A. 2022 Oct; 188(10): 3032–3040. Published online 2022 Jul 25. doi: 10.1002/ajmg.a.62911
PMCID:
PMC9545381
3.
Stijn R. van de Plassche, Arjan P. M. de Brouwer
Genes (Basel) 2021 May; 12(5): 663. Published online 2021 Apr 28. doi: 10.3390/genes12050663
PMCID:
PMC8146938
4.
Jee Myung Yang, Beom Hee Lee, Gi-Byoung Nam, June-Gone Kim, Joo Yong Lee
Genes (Basel) 2020 Nov; 11(11): 1356. Published online 2020 Nov 16. doi: 10.3390/genes11111356
PMCID:
PMC7697939
5.
William B. Hannah, Suzanne DeBrosse, BreAnna Kinghorn, Steven Strausbaugh, Moira L. Aitken, Margaret Rosenfeld, Whitney E. Wolf, Michael R. Knowles, Maimoona A. Zariwala
Mol Genet Genomic Med. 2019 Sep; 7(9): e911. Published online 2019 Aug 1. doi: 10.1002/mgg3.911
PMCID:
PMC6732318
6.
Tamara Paff, Niki T. Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G. Haarman, Johannes M.A. Daniels, Erik A. Sistermans, Natalija Bogunovic, Gerard W. Dougherty, Inga M. Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha
Am J Hum Genet. 2017 Jan 5; 100(1): 160–168. Published online 2016 Dec 29. doi: 10.1016/j.ajhg.2016.11.019
PMCID:
PMC5223094
7.
Bente A. Talseth-Palmer, Juul T. Wijnen, Desma M. Grice, Rodney J. Scott
Fam Cancer. 2013; 12(2): 207–216. Published online 2013 Mar 8. doi: 10.1007/s10689-013-9614-2
PMCID:
PMC3717148
8.
Alberta A. H. J. Thiadens, Niki W. R. Slingerland, Ralph J. Florijn, Gerhard H. Visser, Frans C. Riemslag, Caroline C. W. Klaver
Graefes Arch Clin Exp Ophthalmol. 2012; 250(5): 769–774. Published online 2012 Jan 31. doi: 10.1007/s00417-011-1857-8
PMCID:
PMC3332371
9.
Stephen R. Williams, Micheala A. Aldred, Vazken M. Der Kaloustian, Fahed Halal, Gordon Gowans, D. Ross McLeod, Sara Zondag, Helga V. Toriello, R. Ellen Magenis, Sarah H. Elsea
Am J Hum Genet. 2010 Aug 13; 87(2): 219–228. doi: 10.1016/j.ajhg.2010.07.011
PMCID:
PMC2917703
10.
Karlien L.M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, Hester Y. Kroes, Stef J.F. Letteboer, Lock H. Ngu, Bartlomiej Budny, Erwin van Wijk, Nicholas T. Gorden, Malika Azhimi, Christel Thauvin-Robinet, Joris A. Veltman, Mireille Boink, Tjitske Kleefstra, Frans P.M. Cremers, Hans van Bokhoven, Arjan P.M. de Brouwer
Am J Hum Genet. 2009 Oct 9; 85(4): 465–481. doi: 10.1016/j.ajhg.2009.09.002
PMCID:
PMC2756557
11.
Kylie M. Drake, E Cristy Ruteshouser, Rachael Natrajan, Phyllis Harbor, Jenny Wegert, Manfred Gessler, Kathy Pritchard-Jones, Paul Grundy, Jeffrey Dome, Vicki Huff, Chris Jones, Micheala A. Aldred
Clin Cancer Res.
Published in final edited form as: Clin Cancer Res. 2009 Oct 1; 15(19): 5985–5992. Published online 2009 Sep 29. doi: 10.1158/1078-0432.CCR-09-1065
PMCID:
PMC2756455
12.
M. A. Aldred, K. L. Dry, E. B. Knight-Jones, L. J. Hardwick, P. W. Teague, D. H. Lester, J. Brown, G. Spowart, A. D. Carothers, J. A. Raeburn, A. C. Bird, A. R. Fielder, A. F. Wright
Am J Hum Genet. 1994 Nov; 55(5): 916–922.
PMCID:
PMC1918325
13.
R. Fujita, E. Bingham, P. Forsythe, C. McHenry, V. Aita, B. A. Navia, K. Dry, M. Segal, M. Devoto, G. Bruns, A. F. Wright, J. Ott, P. A. Sieving, A. Swaroop
Am J Hum Genet. 1996 Jul; 59(1): 152–158.
PMCID:
PMC1915116
14.
Peter JM Crawford, Michael Aldred, Agnes Bloch-Zupan
Orphanet J Rare Dis. 2007; 2: 17. Published online 2007 Apr 4. doi: 10.1186/1750-1172-2-17
PMCID:
PMC1853073
15.
E Kinning, C Tufarelli, W Winship, M Aldred, R Trembath
J Med Genet. 2005 Dec; 42(12): e70. doi: 10.1136/jmg.2005.033829
PMCID:
PMC1735964
16.
Uta Francke, Hans D. Ochs, Bérengère de Martinville, Joseph Giacalone, Valerie Lindgren, Christine Distèche, Roberta A. Pagon, Marten H. Hofker, Gert-Jan B. van Ommen, Peter L. Pearson, Ralph J. Wedgwood
Am J Hum Genet. 1985 Mar; 37(2): 250–267.
PMCID:
PMC1684578
17.
Xiao-Ping Zhou, Kelly Woodford-Richens, Rainer Lehtonen, Keisuke Kurose, Micheala Aldred, Heather Hampel, Virpi Launonen, Sanno Virta, Robert Pilarski, Reijo Salovaara, Walter F. Bodmer, Beth A. Conrad, Malcolm Dunlop, Shirley V. Hodgson, Takeo Iwama, Heikki Järvinen, Ilmo Kellokumpu, J. C. Kim, Barbara Leggett, David Markie, Jukka-Pekka Mecklin, Kay Neale, Robin Phillips, Juan Piris, Paul Rozen, Richard S. Houlston, Lauri A. Aaltonen, Ian P. M. Tomlinson, Charis Eng
Am J Hum Genet. 2001 Oct; 69(4): 704–711. Published online 2001 Aug 30. doi: 10.1086/323703
PMCID:
PMC1226057
18.
M. F. Dean, Helen Muir, R. J. F. Ewins
Biochem J. 1971 Aug; 123(5): 883–894. doi: 10.1042/bj1230883
PMCID:
PMC1177089
19.
Joseph C. Fratantoni, Clara W. Hall, Elizabeth F. Neufeld
Proc Natl Acad Sci U S A. 1969 Sep; 64(1): 360–366. doi: 10.1073/pnas.64.1.360
PMCID:
PMC286170

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