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Items: 13

1.
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
2.
M. Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, Uta Meyer, Dorothea Möslinger, M. Luz Couce, Aurélie Empain, Can Ficicioglu, Natalia Juliá Palacios, Mariela M. De Los Santos De Pelegrin, Isabel A. Rivera, Sabine Scholl-Bürgi, Annet M. Bosch, David Cassiman, Didem Demirbas, Matthias Gautschi, Ina Knerr, Philippe Labrune, Anastasia Skouma, Patrick Verloo, Saskia B. Wortmann, Eileen P. Treacy, David J. Timson, Gerard T. Berry
Genet Med. 2021; 23(1): 202–210. Published online 2020 Aug 18. doi: 10.1038/s41436-020-00942-9
PMCID:
PMC7790741
3.
Aaron Seo, Suleyman Gulsuner, Sarah Pierce, Miri Ben-Harosh, Hanna Shalev, Tom Walsh, Tanya Krasnov, Orly Dgany, Sergei Doulatov, Hannah Tamary, Akiko Shimamura, Mary-Claire King
Hum Mol Genet. 2019 Jan 1; 28(1): 133–142. Published online 2018 Sep 20. doi: 10.1093/hmg/ddy334
PMCID:
PMC6298239
4.
Filipa Dias Costa, Sacha Ferdinandusse, Carla Pinto, Andrea Dias, Liesbeth Keldermans, Dulce Quelhas, Gert Matthijs, Petra A. Mooijer, Luísa Diogo, Jaak Jaeken, Paula Garcia
JIMD Rep. 2017; 37: 19–25. Published online 2017 Mar 1. doi: 10.1007/8904_2017_10
PMCID:
PMC5740041
5.
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.
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
6.
L.C. Tegtmeyer, S. Rust, M. van Scherpenzeel, B.G. Ng, M.-E. Losfeld, S. Timal, K. Raymond, P. He, M. Ichikawa, J. Veltman, K. Huijben, Y.S. Shin, V. Sharma, M. Adamowicz, M. Lammens, J. Reunert, A. Witten, E. Schrapers, G. Matthijs, J. Jaeken, D. Rymen, T. Stojkovic, P. Laforêt, F. Petit, O. Aumaître, E. Czarnowska, M. Piraud, T. Podskarbi, C.A. Stanley, R. Matalon, P. Burda, S. Seyyedi, V. Debus, P. Socha, J. Sykut-Cegielska, F. van Spronsen, L. de Meirleir, P. Vajro, T. DeClue, C. Ficicioglu, Y. Wada, R.A. Wevers, D. Vanderschaeghe, N. Callewaert, R. Fingerhut, E. van Schaftingen, H.H. Freeze, E. Morava, D.J. Lefeber, T. Marquardt
N Engl J Med.
Published in final edited form as: N Engl J Med. 2014 Feb 6; 370(6): 533–542. doi: 10.1056/NEJMoa1206605
PMCID:
PMC4373661
7.
Ana M. Brokate-Llanos, José M. Monje, Piedad del Socorro Murdoch, Manuel J. Muñoz
Genetics. 2014 Dec; 198(4): 1559–1569. Published online 2014 Oct 8. doi: 10.1534/genetics.114.170084
PMCID:
PMC4256771
8.
Jennifer M. I. Daenzer, Rebecca D. Sanders, Darwin Hang, Judith L. Fridovich-Keil
PLoS Genet. 2012 May; 8(5): e1002721. Published online 2012 May 24. doi: 10.1371/journal.pgen.1002721
PMCID:
PMC3359975
9.
Rebecca D. Sanders, Jennifer M. I. Sefton, Kenneth H. Moberg, Judith L. Fridovich-Keil
Dis Model Mech. 2010 Sep-Oct; 3(9-10): 628–638. Published online 2010 Jun 2. doi: 10.1242/dmm.005058
PMCID:
PMC2931539
10.
J Walter, R Roberts, G Besley, J Wraith, M Cleary, J Holton, R MacFaul
Arch Dis Child. 1999 Apr; 80(4): 374–376. doi: 10.1136/adc.80.4.374
PMCID:
PMC1717903
11.
J B Holton, M G Gillett, R MacFaul, R Young
Arch Dis Child. 1981 Nov; 56(11): 885–887. doi: 10.1136/adc.56.11.885
PMCID:
PMC1627389
12.
Kimberly K. Openo, Jenny M. Schulz, Claudia A. Vargas, Corey S. Orton, Michael P. Epstein, Rhonda E. Schnur, Fernando Scaglia, Gerard T. Berry, Gary S. Gottesman, Can Ficicioglu, Alfred E. Slonim, Richard J. Schroer, Chunli Yu, Vanessa E. Rangel, Jennifer Keenan, Kerri Lamance, Judith L. Fridovich-Keil
Am J Hum Genet. 2006 Jan; 78(1): 89–102. Published online 2005 Nov 14. doi: 10.1086/498985
PMCID:
PMC1380226
13.
T M Wohlers, N C Christacos, M T Harreman, J L Fridovich-Keil
Am J Hum Genet. 1999 Feb; 64(2): 462–470. doi: 10.1086/302263
PMCID:
PMC1377755

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