U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Books

Items: 1 to 20 of 23

1.
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2
Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, Irene Steiner-Wilke, Brigitte Vollmer, Katrin Schulze, Tracy Briggs, Ruth Braden, Adam Vogel, Daisy Thompson-Lake, Chirag Patel, Edward Blair, Himanshu Goel, Samantha Turner, Ute Moog, Angelika Riess, Frederique Liegeois, David A Koolen, David J Amor, Tjitske Kleefstra, Simon E Fisher, Christiane Zweier, Angela T Morgan
J Med Genet. 2023 Jun; 60(6): 597–607. Published online 2022 Nov 3. doi: 10.1136/jmg-2022-108734
PMCID:
PMC10314088
AbstractArticlePDF–691K
2.
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
Antony Kaspi, Michael S. Hildebrand, Victoria E. Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J. Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K. Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold, Shaun Ziegenfusz, Mark F. Bennett, Erandee Robertson, Longfei Wang, Amber Boys, Simon E. Fisher, David J. Amor, Ingrid E. Scheffer, Melanie Bahlo, Angela T. Morgan
Mol Psychiatry. 2023; 28(4): 1647–1663. Published online 2022 Sep 18. doi: 10.1038/s41380-022-01764-8
Correction in:
Mol Psychiatry. 2023; 28(4): 1664–1666.
PMCID:
PMC10208970
AbstractArticlePDF–2.5M
3.
Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature
Miya St John, Olivia van Reyk, David A. Koolen, Bert B. A. de Vries, David J. Amor, Angela T. Morgan
Eur J Hum Genet. 2023 May; 31(5): 531–540. Published online 2022 Dec 19. doi: 10.1038/s41431-022-01230-7
PMCID:
PMC10172335
AbstractArticlePDF–1.2M
4.
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
Maria B. Christensen, Amanda M. Levy, Nazanin A. Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valérie Benoit, Kailash P. Bhatia, Tatjana Bierhals, Christian M. Boßelmann, Julien Buratti, Bert Callewaert, Berten Ceulemans, Perrine Charles, Matthias De Wachter, Mohammadreza Dehghani, Erika D'haenens, Martine Doco‐Fenzy, Michaela Geßner, Cyrielle Gobert, Ulviyya Guliyeva, Tobias B. Haack, Trine B. Hammer, Tilman Heinrich, Maja Hempel, Theresia Herget, Ute Hoffmann, Judit Horvath, Henry Houlden, Boris Keren, Christina Kresge, Candy Kumps, Damien Lederer, Alban Lermine, Francesca Magrinelli, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, Mahdiyeh Moudi, Amelie J. Müller, Anna J. Oostra, Beth A. Pletcher, David Ros‐Pardo, Shanika Samarasekera, Marco Tartaglia, Kristof Van Schil, Julie Vogt, Evangeline Wassmer, Juliane Winkelmann, Maha S. Zaki, Michael Zech, Holger Lerche, Francesca Clementina Radio, Paulino Gomez‐Puertas, Rikke S. Møller, Zeynep Tümer
Clin Genet. 2022 Aug; 102(2): 98–109. Published online 2022 Jun 8. doi: 10.1111/cge.14165
PMCID:
PMC9546172
AbstractArticlePDF–9.2M
5.
Molecular networks of the FOXP2 transcription factor in the brain
Joery den Hoed, Karthikeyan Devaraju, Simon E Fisher
EMBO Rep. 2021 Aug 4; 22(8): e52803. Published online 2021 Jul 14. doi: 10.15252/embr.202152803
PMCID:
PMC8339667
AbstractArticlePDF–1.2M
6.
Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome
Amanda Brignell, Conway Gu, Alison Holm, Bronwyn Carrigg, Daisy A. Sheppard, David J. Amor, Angela T. Morgan
Eur J Hum Genet. 2021 Apr; 29(4): 564–574. Published online 2020 Dec 8. doi: 10.1038/s41431-020-00761-1
Correction in:
Eur J Hum Genet. 2021 Apr; 29(4): 719.
PMCID:
PMC8115660
AbstractArticlePDF–843K
7.
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
8.
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
Kamal Khan, Michael Zech, Angela T. Morgan, David J. Amor, Matej Skorvanek, Tahir N. Khan, Michael S. Hildebrand, Victoria E. Jackson, Thomas S. Scerri, Matthew Coleman, Kristin A. Rigbye, Ingrid E. Scheffer, Melanie Bahlo, Matias Wagner, Daniel D. Lam, Riccardo Berutti, Petra Havránková, Anna Fečíková, Tim M. Strom, Vladimir Han, Petra Dosekova, Zuzana Gdovinova, Franco Laccone, Muhammad Jameel, Marie R. Mooney, Shahid M. Baig, Robert Jech, Erica E. Davis, Nicholas Katsanis, Juliane Winkelmann
Genet Med. Author manuscript; available in PMC 2019 Nov 8.
Published in final edited form as: Genet Med. 2019 Nov; 21(11): 2532–2542. Published online 2019 Apr 30. doi: 10.1038/s41436-019-0523-0
PMCID:
PMC6821592
AbstractArticlePDF–1.3M
9.
Chromatin decondensation by FOXP2 promotes human neuron maturation and expression of neurodevelopmental disease genes
Stephanie L. Hickey, Stefano Berto, Genevieve Konopka
Cell Rep. Author manuscript; available in PMC 2019 Oct 15.
Published in final edited form as: Cell Rep. 2019 May 7; 27(6): 1699–1711.e9. doi: 10.1016/j.celrep.2019.04.044
PMCID:
PMC6794152
AbstractArticlePDF–2.1M
10.
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development
Else Eising, Amaia Carrion-Castillo, Arianna Vino, Edythe A. Strand, Kathy J. Jakielski, Thomas S. Scerri, Michael S. Hildebrand, Richard Webster, Alan Ma, Bernard Mazoyer, Clyde Francks, Melanie Bahlo, Ingrid E. Scheffer, Angela T. Morgan, Lawrence D. Shriberg, Simon E. Fisher
Mol Psychiatry. 2019; 24(7): 1065–1078. Published online 2018 Feb 20. doi: 10.1038/s41380-018-0020-x
PMCID:
PMC6756287
AbstractArticlePDF–1.9M
11.
Interventions for childhood apraxia of speech
Angela T Morgan, Elizabeth Murray, Frederique J Liégeois, Cochrane Developmental, Psychosocial and Learning Problems Group
Cochrane Database Syst Rev. 2018; 2018(5): CD006278. Published online 2018 May 30. doi: 10.1002/14651858.CD006278.pub3
PMCID:
PMC6494637
AbstractArticlePDF–606K
12.
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine B. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie A. Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P. A. Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S. A. Cohen, Ruky Agbahovbe, A. Micheil Innes, P. Y. Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah E. Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H. Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marije Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L. I. van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, The DDD study, John D. Roberts, Robert M. Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G. Brunner, Paul A. Wade, Simon E. Fisher, Philippe M. Campeau
Nat Commun. 2018; 9: 4619. Published online 2018 Nov 5. doi: 10.1038/s41467-018-06014-6
Correction in:
Nat Commun. 2019; 10: 883.
Correction in:
Nat Commun. 2019; 10: 2079.
PMCID:
PMC6218476
AbstractArticlePDF–1.6M
13.
Early neuroimaging markers of FOXP2 intragenic deletion
Frédérique J. Liégeois, Michael S. Hildebrand, Alexandra Bonthrone, Samantha J. Turner, Ingrid E. Scheffer, Melanie Bahlo, Alan Connelly, Angela T. Morgan
Sci Rep. 2016; 6: 35192. Published online 2016 Oct 13. doi: 10.1038/srep35192
PMCID:
PMC5062117
AbstractArticlePDF–821K
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.
De novo TBR1 mutations in sporadic autism disrupt protein functions
Pelagia Deriziotis, Brian J. O’Roak, Sarah A. Graham, Sara B. Estruch, Danai Dimitropoulou, Raphael A. Bernier, Jennifer Gerdts, Jay Shendure, Evan E. Eichler, Simon E. Fisher
Nat Commun. Author manuscript; available in PMC 2015 Mar 18.
Published in final edited form as: Nat Commun. 2014; 5: 4954. Published online 2014 Sep 18. doi: 10.1038/ncomms5954
PMCID:
PMC4212638
AbstractArticlePDF–1.5M
16.
Novel Candidate Genes and Regions for Childhood Apraxia of Speech (CAS) Identified by Array Comparative Genomic Hybridization
Jennifer J.S. Laffin, Gordana Raca, Craig A. Jackson, Edythe A. Strand, Kathy J. Jakielski, Lawrence D. Shriberg
Genet Med. Author manuscript; available in PMC 2013 Nov 1.
Published in final edited form as: Genet Med. 2012 Nov; 14(11): 928–936. Published online 2012 Jul 5. doi: 10.1038/gim.2012.72
Correction in:
volume 15 on page 587
PMCID:
PMC3563158
AbstractArticlePDF–62K
17.
Phenotype of FOXP2 Haploinsufficiency in a Mother and Son
Gregory M. Rice, Gordana Raca, Kathy J. Jakielski, Jennifer J. Laffin, Christina M. Iyama-Kurtycz, Sigan L. Hartley, Rae E. Sprague, Anne T. Heintzelman, Lawrence D. Shriberg
Am J Med Genet A. Author manuscript; available in PMC 2013 Jan 15.
Published in final edited form as: Am J Med Genet A. 2012 Jan; 158A(1): 174–181. Published online 2011 Nov 21. doi: 10.1002/ajmg.a.34354
PMCID:
PMC3319495
AbstractArticlePDF–948K
18.
Prevalence and Phenotype of Childhood Apraxia of Speech In Youth with Galactosemia
Lawrence D. Shriberg, Nancy L. Potter, Edythe A. Strand
J Speech Lang Hear Res. Author manuscript; available in PMC 2012 Apr 1.
Published in final edited form as: J Speech Lang Hear Res. 2011 Apr; 54(2): 487–519. Published online 2010 Oct 21. doi: 10.1044/1092-4388(2010/10-0068)
PMCID:
PMC3070858
AbstractArticlePDF–664K
19.
Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia
Lars Feuk, Aino Kalervo, Marita Lipsanen-Nyman, Jennifer Skaug, Kazuhiko Nakabayashi, Brenda Finucane, Danielle Hartung, Micheil Innes, Batsheva Kerem, Małgorzata J. Nowaczyk, Joseph Rivlin, Wendy Roberts, Lili Senman, Anne Summers, Peter Szatmari, Virginia Wong, John B. Vincent, Susan Zeesman, Lucy R. Osborne, Janis Oram Cardy, Juha Kere, Stephen W. Scherer, Katariina Hannula-Jouppi
Am J Hum Genet. 2006 Nov; 79(5): 965–972. Published online 2006 Sep 27. doi: 10.1086/508902
PMCID:
PMC1698557
AbstractArticlePDF–358K
20.
The SPCH1 Region on Human 7q31: Genomic Characterization of the Critical Interval and Localization of Translocations Associated with Speech and Language Disorder
Cecilia S. L. Lai, Simon E. Fisher, Jane A. Hurst, Elaine R. Levy, Shirley Hodgson, Margaret Fox, Stephen Jeremiah, Susan Povey, D. Curtis Jamison, Eric D. Green, Faraneh Vargha-Khadem, Anthony P. Monaco
Am J Hum Genet. 2000 Aug; 67(2): 357–368. Published online 2000 Jul 5. doi: 10.1086/303011
PMCID:
PMC1287211
AbstractArticlePDF–534K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center