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Items: 16

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. Author manuscript; available in PMC 2024 May 1.
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
AbstractArticlePDF–894K
2.
Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2
Erdal Eren, Havva Tezcan Ünlü, Serdar Ceylaner, Ömer Tarım
J Clin Res Pediatr Endocrinol. 2023 Mar; 15(1): 97–102. Published online 2023 Feb 27. doi: 10.4274/jcrpe.galenos.2021.2020.0315
PMCID:
PMC9976165
AbstractArticlePDF–1.1M
3.
Genome sequencing as a first-line diagnostic test for hospitalized infants
Kevin M. Bowling, Michelle L. Thompson, Candice R. Finnila, Susan M. Hiatt, Donald R. Latner, Michelle D. Amaral, James M.J. Lawlor, Kelly M. East, Meagan E. Cochran, Veronica Greve, Whitley V. Kelley, David E. Gray, Stephanie A. Felker, Hannah Meddaugh, Ashley Cannon, Amanda Luedecke, Kelly E. Jackson, Laura G. Hendon, Hillary M. Janani, Marla Johnston, Lee Ann Merin, Sarah L. Deans, Carly Tuura, Heather Williams, Kelly Laborde, Matthew B. Neu, Jessica Patrick-Esteve, Anna C.E. Hurst, Jegen Kandasamy, Wally Carlo, Kyle B. Brothers, Brian M. Kirmse, Renate Savich, Duane Superneau, Steven B. Spedale, Sara J. Knight, Gregory S. Barsh, Bruce R. Korf, Gregory M. Cooper
Genet Med. Author manuscript; available in PMC 2022 Oct 1.
Published in final edited form as: Genet Med. 2022 Apr; 24(4): 851–861. Published online 2021 Nov 27. doi: 10.1016/j.gim.2021.11.020
PMCID:
PMC8995345
AbstractArticlePDF–197K
4.
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features
Simonetta Rosato, Sheila Unger, Belinda Campos-Xavier, Stefano Giuseppe Caraffi, Laura Beltrami, Marzia Pollazzon, Ivan Ivanovski, Marco Castori, Maria Paola Bonasoni, Giuseppina Comitini, Peter G. J. Nikkels, Kristin Lindstrom, Christine Umandap, Andrea Superti-Furga, Livia Garavelli
Genes (Basel) 2022 Feb; 13(2): 261. Published online 2022 Jan 28. doi: 10.3390/genes13020261
PMCID:
PMC8871755
AbstractArticlePDF–3.6M
5.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Nicole Lesko, Martin Engvall, Britt-Marie Anderlid, Henrik Arnell, Carolina Backman Johansson, Michela Barbaro, Erik Björck, Helene Bruhn, Jesper Eisfeldt, Christoph Freyer, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjö, Maritta Hellström-Pigg, Erik Iwarsson, Anders Jemt, Mikael Laaksonen, Sara Lind Enoksson, Helena Malmgren, Karin Naess, Magnus Nordenskjöld, Mikael Oscarson, Maria Pettersson, Chiara Rasi, Adam Rosenbaum, Ellika Sahlin, Eliane Sardh, Tommy Stödberg, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Ulrika von Döbeln, Daphne Vassiliou, Sofie Vonlanthen, Ann-Charlotte Wikström, Josephine Wincent, Ola Winqvist, Anna Wredenberg, Sofia Ygberg, Rolf H. Zetterström, Per Marits, Maria Johansson Soller, Ann Nordgren, Valtteri Wirta, Anna Lindstrand, Anna Wedell
Genome Med. 2021; 13: 40. Published online 2021 Mar 17. doi: 10.1186/s13073-021-00855-5
PMCID:
PMC7968334
AbstractArticlePDF–1.1M
6.
FAM111A induces nuclear dysfunction in disease and viral restriction
Minghua Nie, Martina Oravcová, Yasaman Jami‐Alahmadi, James A Wohlschlegel, Eros Lazzerini‐Denchi, Michael N Boddy
EMBO Rep. 2021 Feb 3; 22(2): e50803. Published online 2020 Dec 28. doi: 10.15252/embr.202050803
PMCID:
PMC7857424
AbstractArticlePDF–2.9M
7.
FAM111 protease activity undermines cellular fitness and is amplified by gain‐of‐function mutations in human disease
Saskia Hoffmann, Satyakrishna Pentakota, Andreas Mund, Peter Haahr, Fabian Coscia, Marta Gallo, Matthias Mann, Nicholas MI Taylor, Niels Mailand
EMBO Rep. 2020 Oct 5; 21(10): e50662. Published online 2020 Aug 9. doi: 10.15252/embr.202050662
PMCID:
PMC7534640
AbstractArticlePDF–15M
8.
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
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
AbstractArticlePDF–2.5M
9.
Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2
Desirée Deconte, Tulia Cristina Kreusch, Bruna Pavan Salvaro, Wagner Fernando Perin, Maria Angélica Tosi Ferreira, Cristiane Kopacek, Ernani Bohrer da Rosa, Jane Iândora Heringer, Rodrigo Ligabue-Braun, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa, Marilu Fiegenbaum
J Pediatr Genet. 2020 Dec; 9(4): 263–269. Published online 2020 Jan 6. doi: 10.1055/s-0039-3401831
PMCID:
PMC7396477
AbstractArticlePDF–557K
10.
FAM111A protects replication forks from protein obstacles via its trypsin-like domain
Yusuke Kojima, Yuka Machida, Sowmiya Palani, Thomas R. Caulfield, Evette S. Radisky, Scott H. Kaufmann, Yuichi J. Machida
Nat Commun. 2020; 11: 1318. Published online 2020 Mar 12. doi: 10.1038/s41467-020-15170-7
PMCID:
PMC7067828
AbstractArticlePDF–2.7M
11.
Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis
Lara Pemberton, Robert Barker, Anna Cockell, Vijaya Ramachandran, Andrea Haworth, Tessa Homfray
BMC Med Genet. 2020; 21: 7. Published online 2020 Jan 7. doi: 10.1186/s12881-019-0939-z
PMCID:
PMC6947839
AbstractArticlePDF–420K
12.
Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene
Mary B. Abraham, Dong Li, Dave Tang, Susan M. O’Connell, Fiona McKenzie, Ee Mun Lim, Hakon Hakonarson, Michael A. Levine, Catherine S. Choong
Int J Pediatr Endocrinol. 2017; 2017: 1. Published online 2017 Jan 25. doi: 10.1186/s13633-016-0041-7
PMCID:
PMC5264330
AbstractArticlePDF–10M
13.
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
AbstractArticlePDF–1.6M
14.
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
AbstractArticlePDF–960K
15.
Whole exome sequencing to identify genetic causes of short stature
Michael H. Guo, Yiping Shen, Emily C. Walvoord, Timothy C. Miller, Jennifer E. Moon, Joel N Hirschhorn, Andrew Dauber
Horm Res Paediatr. Author manuscript; available in PMC 2015 Jun 20.
Published in final edited form as: Horm Res Paediatr. 2014; 82(1): 44–52. Published online 2014 Jun 20. doi: 10.1159/000360857
PMCID:
PMC4130218
AbstractArticlePDF–68K
16.
FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
Sheila Unger, Maria W. Górna, Antony Le Béchec, Sonia Do Vale-Pereira, Maria Francesca Bedeschi, Stefan Geiberger, Giedre Grigelioniene, Eva Horemuzova, Faustina Lalatta, Ekkehart Lausch, Cinzia Magnani, Sheela Nampoothiri, Gen Nishimura, Duccio Petrella, Francisca Rojas-Ringeling, Akari Utsunomiya, Bernhard Zabel, Sylvain Pradervand, Keith Harshman, Belinda Campos-Xavier, Luisa Bonafé, Giulio Superti-Furga, Brian Stevenson, Andrea Superti-Furga
Am J Hum Genet. 2013 Jun 6; 92(6): 990–995. doi: 10.1016/j.ajhg.2013.04.020
PMCID:
PMC3675238
AbstractArticlePDF–790K

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