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Items: 19

1.
Nosology of genetic skeletal disorders: 2023 revision
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier-Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew Warman, Andrea Superti-Furga
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2023 May; 191(5): 1164–1209. Published online 2023 Feb 13. doi: 10.1002/ajmg.a.63132
PMCID:
PMC10081954
2.
Frederic R. E. Acke, Els M. R. De Leenheer
Genes (Basel) 2022 Sep; 13(9): 1571. Published online 2022 Sep 1. doi: 10.3390/genes13091571
PMCID:
PMC9498449
3.
Thomas R. W. Nixon, Allan J. Richards, Howard Martin, Philip Alexander, Martin P. Snead
Genes (Basel) 2022 Jul; 13(7): 1135. Published online 2022 Jun 24. doi: 10.3390/genes13071135
PMCID:
PMC9324312
4.
Philip Alexander, Martin P. Snead
Genes (Basel) 2022 Jul; 13(7): 1150. Published online 2022 Jun 26. doi: 10.3390/genes13071150
PMCID:
PMC9318672
5.
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
6.
Zack Soh, Allan J. Richards, Annie McNinch, Philip Alexander, Howard Martin, Martin P. Snead
Genes (Basel) 2022 Jun; 13(6): 1089. Published online 2022 Jun 18. doi: 10.3390/genes13061089
PMCID:
PMC9222743
7.
Soon-Il Choi, Se-Joon Woo, Baek-Lok Oh, Jinu Han, Hyun-Taek Lim, Byung-Joo Lee, Kwangsic Joo, Jun-Young Park, Ja-Hyun Jang, Min-Kyung So, Sang-Jin Kim
Genes (Basel) 2021 Oct; 12(10): 1578. Published online 2021 Oct 5. doi: 10.3390/genes12101578
PMCID:
PMC8536015
8.
M. P. Snead, A. J. Richards, A. M. McNinch, P. Alexander, H. Martin, T. R. W. Nixon, P. Bale, N. Shenker, S. Brown, A. M. Blackwell, A. V. Poulson
Eye (Lond) 2022 Oct; 36(10): 1966–1972. Published online 2021 Oct 5. doi: 10.1038/s41433-021-01776-8
PMCID:
PMC8491173
9.
Robert E Morris, Edward Scott Parma, Nathaniel H Robin, Mathew R Sapp, Matthew H Oltmanns, Matthew R West, Donald C Fletcher, Ronald A Schuchard, Ferenc Kuhn
Clin Ophthalmol. 2021; 15: 19–29. Published online 2021 Jan 6. doi: 10.2147/OPTH.S284441
PMCID:
PMC7802593
10.
Megan Boothe, Robert Morris, Nathaniel Robin
J Pers Med. 2020 Sep; 10(3): 105. Published online 2020 Aug 27. doi: 10.3390/jpm10030105
PMCID:
PMC7564399
11.
Alexander Walters, Nathan Lambert, Seth Bricel, Thomas Hwang, Eliesa Ing, Shandiz Tehrani
J Glaucoma.
Published in final edited form as: J Glaucoma. 2020 Oct; 29(10): 992–994. doi: 10.1097/IJG.0000000000001591
PMCID:
PMC7541778
12.
Thomas Nixon, Allan J. Richards, Adrian Lomas, Stephen Abbs, Pradeep Vasudevan, Annie McNinch, Philip Alexander, Martin P. Snead
Mol Genet Genomic Med. 2020 Sep; 8(9): e1354. Published online 2020 Jun 24. doi: 10.1002/mgg3.1354
PMCID:
PMC7507023
13.
Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper
Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3
PMCID:
PMC7497289
14.
Dan-Dan Wang, Feng-Juan Gao, Fang-Yuan Hu, Sheng-Hai Zhang, Ping Xu, Ji-Hong Wu
BMC Med Genet. 2020; 21: 27. Published online 2020 Feb 10. doi: 10.1186/s12881-020-0963-z
PMCID:
PMC7008542
15.
Thomas R. W. Nixon, Allan Richards, Laura K. Towns, Gavin Fuller, Stephen Abbs, Philip Alexander, Annie McNinch, Richard N. Sandford, Martin P. Snead
Eur J Hum Genet. 2019 Mar; 27(3): 369–377. Published online 2018 Dec 19. doi: 10.1038/s41431-018-0316-y
PMCID:
PMC6460578
16.
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
17.
Allan J Richards, Gregory S Fincham, Annie McNinch, David Hill, Arabella V Poulson, Bruce Castle, Melissa M Lees, Anthony T Moore, John D Scott, Martin P Snead
J Med Genet. 2013 Nov; 50(11): 765–771. Published online 2013 Aug 6. doi: 10.1136/jmedgenet-2012-101499
PMCID:
PMC3812854
18.
David A. Stevenson, Rena Vanzo, Kristy Damjanovich, Heather Hanson, Harlan Muntz, Robert O. Hoffman, Pinar Bayrak-Toydemir
Eur J Med Genet.
Published in final edited form as: Eur J Med Genet. 2012 Jun; 55(0): 418–422. Published online 2012 Mar 30. doi: 10.1016/j.ejmg.2012.03.006
PMCID:
PMC3674818
19.
Kristien P Hoornaert, Inge Vereecke, Chantal Dewinter, Thomas Rosenberg, Frits A Beemer, Jules G Leroy, Laila Bendix, Erik Björck, Maryse Bonduelle, Odile Boute, Valerie Cormier-Daire, Christine De Die-Smulders, Anne Dieux-Coeslier, Hélène Dollfus, Mariet Elting, Andrew Green, Veronica I Guerci, Raoul C M Hennekam, Yvonne Hilhorts-Hofstee, Muriel Holder, Carel Hoyng, Kristi J Jones, Dragana Josifova, Ilkka Kaitila, Suzanne Kjaergaard, Yolande H Kroes, Kristina Lagerstedt, Melissa Lees, Martine LeMerrer, Cinzia Magnani, Carlo Marcelis, Loreto Martorell, Michèle Mathieu, Meriel McEntagart, Angela Mendicino, Jenny Morton, Gabrielli Orazio, Véronique Paquis, Orit Reish, Kalle O J Simola, Sarah F Smithson, Karen I Temple, Elisabeth Van Aken, Yolande Van Bever, Jenneke van den Ende, Johanna M Van Hagen, Leopoldo Zelante, Riina Zordania, Anne De Paepe, Bart P Leroy, Marc De Buyzere, Paul J Coucke, Geert R Mortier
Eur J Hum Genet. 2010 Aug; 18(8): 872–880. Published online 2010 Feb 24. doi: 10.1038/ejhg.2010.23
PMCID:
PMC2987380

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