PMC Links for Books (Select 5259680) - PMC

Select item 83850491.

Clinical delineation of SETBP1 haploinsufficiency disorder

Nadieh A. Jansen, Ruth O. Braden, Siddharth Srivastava, Erin F. Otness, Gaetan Lesca, Massimiliano Rossi, Mathilde Nizon, Raphael A. Bernier, Chloé Quelin, Arie van Haeringen, Tjitske Kleefstra, Maggie M. K. Wong, Sandra Whalen, Simon E. Fisher, Angela T. Morgan, Bregje W. van Bon

Eur J Hum Genet. 2021 Aug; 29(8): 1198–1205. Published online 2021 Apr 19. doi: 10.1038/s41431-021-00888-9

PMCID:: PMC8385049

Article PDF–1.5M

Select item 83848742.

Speech and language deficits are central to SETBP1 haploinsufficiency disorder

Angela Morgan, Ruth Braden, Maggie M. K. Wong, Estelle Colin, David Amor, Frederique Liégeois, Siddharth Srivastava, Adam Vogel, Varoona Bizaoui, Kara Ranguin, Simon E. Fisher, Bregje W. van Bon

Eur J Hum Genet. 2021 Aug; 29(8): 1216–1225. Published online 2021 Apr 27. doi: 10.1038/s41431-021-00894-x

PMCID:: PMC8384874

Article PDF–1.0M

Select item 77722013.

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”

Emanuela Leonardi, Elisa Bettella, Maria Federica Pelizza, Maria Cristina Aspromonte, Roberta Polli, Clementina Boniver, Stefano Sartori, Donatella Milani, Alessandra Murgia

Front Neurol. 2020; 11: 593446. Published online 2020 Dec 16. doi: 10.3389/fneur.2020.593446

PMCID:: PMC7772201

Article PDF–989K

Select item 74972894.

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

Article PDF–2.5M

Select item 64946375.

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

Article PDF–606K

Select item 45447536.

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

Article PDF–960K

Select item 41772947.

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld, Bregje W.M. van Bon, Anneke T. Vulto-van Silfhout, Paolo Bosco, Kathryn L. Friend, Carl Baker, Serafino Buono, Lisenka E.L.M. Vissers, Janneke H. Schuurs-Hoeijmakers, Alex Hoischen, Rolph Pfundt, Nik Krumm, Gemma L. Carvill, Deana Li, David Amaral, Natasha Brown, Paul J. Lockhart, Ingrid E Scheffer, Antonino Alberti, Marie Shaw, Rosa Pettinato, Raymond Tervo, Nicole de Leeuw, Margot R.F. Reijnders, Beth S. Torchia, Hilde Peeters, Brian J. O'Roak, Marco Fichera, Jayne Y. Hehir-Kwa, Jay Shendure, Heather C. Mefford, Eric Haan, Jozef Gécz, Bert B.A. de Vries, Corrado Romano, Evan E. Eichler

Nat Genet. Author manuscript; available in PMC 2015 Apr 1.

Published in final edited form as: Nat Genet. 2014 Oct; 46(10): 1063–1071. Published online 2014 Sep 14. doi: 10.1038/ng.3092

PMCID:: PMC4177294

Article PDF–806K

Select item 33030578.

Speech production deficits in early readers: predictors of risk

Judith G. Foy, Virginia A. Mann

Read Writ. 2012; 25(4): 799–830. Published online 2011 Feb 17. doi: 10.1007/s11145-011-9300-4

PMCID:: PMC3303057

Article PDF–341K

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