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Items: 16

Select item 74972891.

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

Abstract Article PDF–2.5M

Select item 73373192.

Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene

Clara Benoit-Pilven, Alicia Besson, Audrey Putoux, Claire Benetollo, Clément Saccaro, Justine Guguin, Gabriel Sala, Audric Cologne, Marion Delous, Gaetan Lesca, Richard A. Padgett, Anne-Louise Leutenegger, Vincent Lacroix, Patrick Edery, Sylvie Mazoyer

PLoS One. 2020; 15(7): e0235655. Published online 2020 Jul 6. doi: 10.1371/journal.pone.0235655

PMCID:: PMC7337319

Abstract Article PDF–2.6M

Select item 68005103.

New insights into minor splicing—a transcriptomic analysis of cells derived from TALS patients

Audric Cologne, Clara Benoit-Pilven, Alicia Besson, Audrey Putoux, Amandine Campan-Fournier, Michael B. Bober, Christine E.M. De Die-Smulders, Aimee D.C. Paulussen, Lucile Pinson, Annick Toutain, Chaim M. Roifman, Anne-Louise Leutenegger, Sylvie Mazoyer, Patrick Edery, Vincent Lacroix

RNA. 2019 Sep; 25(9): 1130–1149. doi: 10.1261/rna.071423.119

PMCID:: PMC6800510

Abstract Article PDF–6.4M

Select item 67742484.

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

Laura S. Farach, Mary E. Little, Angela L. Duker, Clare V. Logan, Andrew Jackson, Jaqueline T. Hecht, Michael Bober

Am J Med Genet A. Author manuscript; available in PMC 2019 Oct 2.

Published in final edited form as: Am J Med Genet A. 2018 Feb; 176(2): 465–469. Published online 2017 Dec 19. doi: 10.1002/ajmg.a.38581

PMCID:: PMC6774248

Abstract Article PDF–348K

Select item 62306495.

Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome

Ariane Hallermayr, Janine Graf, Udo Koehler, Andreas Laner, Brigitte Schönfeld, Anna Benet‐Pagès, Elke Holinski‐Feder

Clin Case Rep. 2018 Nov; 6(11): 2224–2228. Published online 2018 Oct 11. doi: 10.1002/ccr3.1830

PMCID:: PMC6230649

Abstract Article PDF–246K

Select item 56779506.

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

Yael Dinur Schejter, Adi Ovadia, Roumiana Alexandrova, Bhooma Thiruvahindrapuram, Sergio L. Pereira, David E. Manson, Ajoy Vincent, Daniele Merico, Chaim M. Roifman

NPJ Genom Med. 2017; 2: 23. Published online 2017 Jul 10. doi: 10.1038/s41525-017-0024-5

PMCID:: PMC5677950

Abstract Article PDF–2.6M

Select item 54738767.

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

Delfien J. Bogaert, Melissa Dullaers, Hye Sun Kuehn, Bart P. Leroy, Julie E. Niemela, Hans De Wilde, Sarah De Schryver, Marieke De Bruyne, Frauke Coppieters, Bart N. Lambrecht, Frans De Baets, Sergio D. Rosenzweig, Elfride De Baere, Filomeen Haerynck

Sci Rep. 2017; 7: 3702. Published online 2017 Jun 16. doi: 10.1038/s41598-017-02434-4

PMCID:: PMC5473876

Abstract Article PDF–3.3M

Select item 49324078.

Microcephalic osteodysplastic primordial dwarfism type 1

Steven Ferrell, Aaron Johnson, Waylon Pearson

BMJ Case Rep. 2016; 2016: bcr2016215502. Published online 2016 Jun 16. doi: 10.1136/bcr-2016-215502

PMCID:: PMC4932407

Abstract Article PDF–592K

Select item 47728119.

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1

Anne B. Krøigård, Andrew P. Jackson, Louise S. Bicknell, Emma Baple, Klaus Brusgaard, Lars K. Hansen, Lilian B. Ousager

Clin Dysmorphol. 2016 Apr; 25(2): 68–72. Published online 2016 Mar 7. doi: 10.1097/MCD.0000000000000110

PMCID:: PMC4772811

Article PDF–247K

Select item 466764310.

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

Daniele Merico, Maian Roifman, Ulrich Braunschweig, Ryan K. C. Yuen, Roumiana Alexandrova, Andrea Bates, Brenda Reid, Thomas Nalpathamkalam, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Paul Gray, Alyson Kakakios, Jane Peake, Stephanie Hogarth, David Manson, Raymond Buncic, Sergio L. Pereira, Jo-Anne Herbrick, Benjamin J. Blencowe, Chaim M. Roifman, Stephen W. Scherer

Nat Commun. 2015; 6: 8718. Published online 2015 Nov 2. doi: 10.1038/ncomms9718

PMCID:: PMC4667643

Abstract Article PDF–819K

Select item 454475311.

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

Abstract Article PDF–960K

Select item 411468712.

Biochemical defects in minor spliceosome function in the developmental disorder MOPD I

Faegheh Jafarifar, Rosemary C. Dietrich, James M. Hiznay, Richard A. Padgett

RNA. 2014 Jul; 20(7): 1078–1089. doi: 10.1261/rna.045187.114

PMCID:: PMC4114687

Abstract Article PDF–719K

Select item 381663513.

Microcephalic Osteodysplastic Primordial Dwarfism type I with biallelic mutations in the RNU4ATAC gene

Rebecca Nagy, Heng Wang, Beate Albrecht, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Eric Haan, Peter Meinecke, Albert de la Chapelle, Judith A. Westman

Clin Genet. Author manuscript; available in PMC 2013 Nov 4.

Published in final edited form as: Clin Genet. 2012 Aug; 82(2): 10.1111/j.1399-0004.2011.01756.x. Published online 2011 Aug 28. doi: 10.1111/j.1399-0004.2011.01756.x