PMC Links for Books (Select 4759994) - PMC

Select item 96063821.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P. Adam, Hans T. Bjornsson, Jacqueline Harris, David A. Dyment, Gail E. Graham, Marjan M. Nezarati, Ritu B. Aul, Claudia Castiglioni, Jeroen Breckpot, Koen Devriendt, Helen Stewart, Benito Banos-Pinero, Sarju Mehta, Richard Sandford, Carolyn Dunn, Remi Mathevet, Lionel van Maldergem, Juliette Piard, Elise Brischoux-Boucher, Antonio Vitobello, Laurence Faivre, Marie Bournez, Frederic Tran-Mau, Isabelle Maystadt, Alberto Fernández-Jaén, Sara Alvarez, Irene Díez García-Prieto, Fowzan S. Alkuraya, Hessa S. Alsaif, Zuhair Rahbeeni, Karen El-Akouri, Mariam Al-Mureikhi, Rebecca C. Spillmann, Vandana Shashi, Pedro A. Sanchez-Lara, John M. Graham, Jr., Amy Roberts, Odelia Chorin, Gilad D. Evrony, Minna Kraatari-Tiri, Tracy Dudding-Byth, Anamaria Richardson, David Hunt, Laura Hamilton, Sarah Dyack, Bryce A. Mendelsohn, Nicolás Rodríguez, Rosario Sánchez-Martínez, Jair Tenorio-Castaño, Julián Nevado, Pablo Lapunzina, Pilar Tirado, Maria-Teresa Carminho Amaro Rodrigues, Lina Quteineh, A. Micheil Innes, Antonie D. Kline, P.Y. Billie Au, Rosanna Weksberg

Am J Hum Genet. 2022 Oct 6; 109(10): 1867–1884. Published online 2022 Sep 20. doi: 10.1016/j.ajhg.2022.08.014

PMCID:: PMC9606382

Abstract Article PDF–2.3M

Select item 90019832.

Case Report: Exome and RNA Sequencing Identify a Novel de novo Missense Variant in HNRNPK in a Chinese Patient With Au-Kline Syndrome

Xin Pan, Sihan Liu, Li Liu, Xu Zhang, Hong Yao, Bo Tan

Front Genet. 2022; 13: 853028. Published online 2022 Mar 29. doi: 10.3389/fgene.2022.853028

PMCID:: PMC9001983

Abstract Article PDF–1.9M

Select item 78206213.

A dyadic approach to the delineation of diagnostic entities in clinical genomics

Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne R. Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian Chung, Robin D. Clark, Timothy C. Cox, Cynthia Curry, Mary Beth Palko Dinulos, William B. Dobyns, Philip F. Giampietro, Katta M. Girisha, Ian A. Glass, John M. Graham, Jr., Karen W. Gripp, Chad R. Haldeman-Englert, Bryan D. Hall, A. Micheil Innes, Jennifer M. Kalish, Kim M. Keppler-Noreuil, Kenjiro Kosaki, Beth A. Kozel, Ghayda M. Mirzaa, John J. Mulvihill, Malgorzata J.M. Nowaczyk, Roberta A. Pagon, Kyle Retterer, Alan F. Rope, Pedro A. Sanchez-Lara, Laurie H. Seaver, Joseph T. Shieh, Anne M. Slavotinek, Andrew K. Sobering, Cathy A. Stevens, David A. Stevenson, Tiong Yang Tan, Wen-Hann Tan, Anne C. Tsai, David D. Weaver, Marc S. Williams, Elaine Zackai, Yuri A. Zarate

Am J Hum Genet. 2021 Jan 7; 108(1): 8–15. Published online 2021 Jan 7. doi: 10.1016/j.ajhg.2020.11.013

PMCID:: PMC7820621

Abstract Article PDF–202K

Select item 61172944.

Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature

P. Y. Billie Au, Caitlin Goedhart, Marcia Ferguson, Jeroen Breckpot, Koenraad Devriendt, Klaas Wierenga, Elizabeth Fanning, Dorothy K. Grange, Gail E. Graham, Carolina Galarreta, Marilyn C. Jones, Usha Kini, Helen Stewart, Jillian S. Parboosingh, Antonie D. Kline, A. Micheil Innes, Care for Rare Canada Consortium

Eur J Hum Genet. 2018 Sep; 26(9): 1272–1281. Published online 2018 Jun 14. doi: 10.1038/s41431-018-0187-2

PMCID:: PMC6117294

Abstract Article PDF–836K

Select item 50068485.

A de novo frameshift in HNRNPK causing a Kabuki‐like syndrome with nodular heterotopia

L. Lange, A. T. Pagnamenta, S. Lise, S. Clasper, H. Stewart, E. S. Akha, G. Quaghebeur, S. J. L. Knight, D. A. Keays, J. C. Taylor, U. Kini

Clin Genet. 2016 Sep; 90(3): 258–262. Published online 2016 Apr 1. doi: 10.1111/cge.12773

PMCID:: PMC5006848

Abstract Article PDF–1.1M

Select item 47319256.

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

Abstract Article PDF–1.6M

Select item 46525987.

hnRNP K is a haploinsufficient tumor suppressor that regulates proliferation and differentiation programs in hematologic malignancies

Miguel Gallardo, Hun Ju Lee, Xiaorui Zhang, Carlos Bueso-Ramos, Laura R. Pageon, Mark McArthur, Asha Multani, Aziz Nazha, Taghi Manshouri, Jan Parker-Thornburg, Inmaculada Rapado, Alfonso Quintas-Cardama, Steven M. Kornblau, Joaquin Martinez-Lopez, Sean M. Post

Cancer Cell. Author manuscript; available in PMC 2016 Oct 12.

Published in final edited form as: Cancer Cell. 2015 Oct 12; 28(4): 486–499. Published online 2015 Sep 24. doi: 10.1016/j.ccell.2015.09.001

PMCID:: PMC4652598

Abstract Article PDF–767K

Select item 45892268.

GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK

P.Y. Billie Au, Jing You, Oana Caluseriu, Jeremy Schwartzentruber, Jacek Majewski, Francois P. Bernier, Marcia Ferguson, Care for Rare Canada Consortium, David Valle, Jillian S. Parboosingh, Nara Sobreira, A. Micheil Innes, Antonie D. Kline

Hum Mutat. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Hum Mutat. 2015 Oct; 36(10): 1009–1014. Published online 2015 Aug 6. doi: 10.1002/humu.22837

PMCID:: PMC4589226

Abstract Article PDF–440K

Select item 45447539.

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

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