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Items: 14

1.
Yaping Yang, Donna M. Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay, Narayanan Veeraraghavan, Alicia Hawes, Theodore Chiang, Magalie Leduc, Joke Beuten, Jing Zhang, Weimin He, Jennifer Scull, Alecia Willis, Megan Landsverk, William J. Craigen, Mir Reza Bekheirnia, Asbjorg Stray-Pedersen, Pengfei Liu, Shu Wen, Wendy Alcaraz, Hong Cui, Magdalena Walkiewicz, Jeffrey Reid, Matthew Bainbridge, Ankita Patel, Eric Boerwinkle, Arthur L. Beaudet, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng
JAMA.
Published in final edited form as: JAMA. 2014 Nov 12; 312(18): 1870–1879. doi: 10.1001/jama.2014.14601
PMCID:
PMC4326249
2.
Wenke Seifert, Jirko Kühnisch, Tanja Maritzen, Stefanie Lommatzsch, Hans Christian Hennies, Sebastian Bachmann, Denise Horn, Volker Haucke
J Biol Chem. 2015 Feb 6; 290(6): 3349–3358. Published online 2014 Dec 9. doi: 10.1074/jbc.M114.608174
PMCID:
PMC4319006
3.
Salima El Chehadeh-Djebbar, Edward Blair, Muriel Holder-Espinasse, Anne Moncla, Anne-Marie Frances, Marlène Rio, François-Guillaume Debray, Patrick Rump, Alice Masurel-Paulet, Nadège Gigot, Patrick Callier, Laurence Duplomb, Bernard Aral, Frédéric Huet, Christel Thauvin-Robinet, Laurence Faivre
Eur J Hum Genet. 2013 Jul; 21(7): 736–742. Published online 2012 Nov 28. doi: 10.1038/ejhg.2012.251
PMCID:
PMC3722949
4.
Wenke Seifert, Jirko Kühnisch, Tanja Maritzen, Denise Horn, Volker Haucke, Hans Christian Hennies
J Biol Chem. 2011 Oct 28; 286(43): 37665–37675. Published online 2011 Aug 24. doi: 10.1074/jbc.M111.267971
PMCID:
PMC3199510
5.
Veronica Parri, Eleni Katzaki, Vera Uliana, Francesca Scionti, Rossella Tita, Rosangela Artuso, Ilaria Longo, Renske Boschloo, Raymon Vijzelaar, Angelo Selicorni, Francesco Brancati, Bruno Dallapiccola, Leopoldo Zelante, Christian P Hamel, Pierre Sarda, Seema R Lalani, Rita Grasso, Sabrina Buoni, Joussef Hayek, Laurent Servais, Bert B A de Vries, Nelly Georgoudi, Sheena Nakou, Michael B Petersen, Francesca Mari, Alessandra Renieri, Francesca Ariani
Eur J Hum Genet. 2010 Oct; 18(10): 1133–1140. Published online 2010 May 12. doi: 10.1038/ejhg.2010.59
PMCID:
PMC2987453
6.
W Seifert, M Holder‐Espinasse, S Spranger, M Hoeltzenbein, E Rossier, H Dollfus, D Lacombe, A Verloes, K H Chrzanowska, G H B Maegawa, D Chitayat, D Kotzot, D Huhle, P Meinecke, B Albrecht, I Mathijssen, B Leheup, K Raile, H C Hennies, D Horn
J Med Genet. 2006 May; 43(5): e22. doi: 10.1136/jmg.2005.039867
PMCID:
PMC2564527
7.
K E Chandler, S Biswas, I C Lloyd, N Parry, J Clayton-Smith, G C M Black
Br J Ophthalmol. 2002 Dec; 86(12): 1395–1398.
PMCID:
PMC1771382
8.
G Mochida, A Rajab, W Eyaid, A Lu, D Al-Nouri, K Kosaki, M Noruzinia, P Sarda, J Ishihara, A Bodell, K Apse, C Walsh
J Med Genet. 2004 Jun; 41(6): e87. doi: 10.1136/jmg.2003.014779
PMCID:
PMC1735796
9.
K Chandler, A Kidd, L Al-Gazali, J Kolehmainen, A Lehesjoki, G Black, J Clayton-Smith
J Med Genet. 2003 Apr; 40(4): 233–241. doi: 10.1136/jmg.40.4.233
PMCID:
PMC1735413
10.
S A Mirhosseini, L B Holmes, D S Walton
J Med Genet. 1972 Jun; 9(2): 193–196.
PMCID:
PMC1469024
11.
Hans Christian Hennies, Anita Rauch, Wenke Seifert, Christian Schumi, Elisabeth Moser, Eva Al-Taji, Gholamali Tariverdian, Krystyna H. Chrzanowska, Malgorzata Krajewska-Walasek, Anna Rajab, Roberto Giugliani, Thomas E. Neumann, Katja M. Eckl, Mohsen Karbasiyan, André Reis, Denise Horn
Am J Hum Genet. 2004 Jul; 75(1): 138–145. Published online 2004 May 20. doi: 10.1086/422219
PMCID:
PMC1181997
12.
Juha Kolehmainen, Robert Wilkinson, Anna-Elina Lehesjoki, Kate Chandler, Satu Kivitie-Kallio, Jill Clayton-Smith, Ann-Liz Träskelin, Laura Waris, Anne Saarinen, Jabbar Khan, Varda Gross-Tsur, Elias I. Traboulsi, Mette Warburg, Jean-Pierre Fryns, Reijo Norio, Graeme C. M. Black, Forbes D. C. Manson
Am J Hum Genet. 2004 Jul; 75(1): 122–127. Published online 2004 May 12. doi: 10.1086/422197
PMCID:
PMC1181995
13.
Juha Kolehmainen, Graeme C. M. Black, Anne Saarinen, Kate Chandler, Jill Clayton-Smith, Ann-Liz Träskelin, Rahat Perveen, Satu Kivitie-Kallio, Reijo Norio, Mette Warburg, Jean-Pierre Fryns, Albert de la Chapelle, Anna-Elina Lehesjoki
Am J Hum Genet. 2003 Jun; 72(6): 1359–1369. Published online 2003 May 2.
PMCID:
PMC1180298
14.
G Massa, L Dooms, M Vanderschueren-Lodeweyckx
J Med Genet. 1991 Jan; 28(1): 48–50.
PMCID:
PMC1016748

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