PMC Links for Books (Select 5411420) - PMC

Select item 82061621.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Maya Chopra, Meriel McEntagart, Jill Clayton-Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha, Anupriya Kaur, Parneet Kaur, Rolph Pfundt, Hermine Veenstra-Knol, Grazia M.S. Mancini, Gerarda Cappuccio, Nicola Brunetti-Pierri, Fanny Kortüm, Maja Hempel, Jonas Denecke, Anna Lehman, CAUSES Study, Tjitske Kleefstra, Kyra E. Stuurman, Martina Wilke, Michelle L. Thompson, E. Martina Bebin, Emilia K. Bijlsma, Mariette J.V. Hoffer, Cacha Peeters-Scholte, Anne Slavotinek, William A. Weiss, Tiffany Yip, Ugur Hodoglugil, Amy Whittle, Janette diMonda, Juanita Neira, Sandra Yang, Amelia Kirby, Hailey Pinz, Rosan Lechner, Frank Sleutels, Ingo Helbig, Sarah McKeown, Katherine Helbig, Rebecca Willaert, Jane Juusola, Jennifer Semotok, Medard Hadonou, John Short, Genomics England Research Consortium, Naomi Yachelevich, Sajel Lala, Alberto Fernández-Jaen, Janvier Porta Pelayo, Chiara Klöckner, Susanne B. Kamphausen, Rami Abou Jamra, Maria Arelin, A. Micheil Innes, Anni Niskakoski, Sam Amin, Maggie Williams, Julie Evans, Sarah Smithson, Damian Smedley, Anna de Burca, Usha Kini, Martin B. Delatycki, Lyndon Gallacher, Alison Yeung, Lynn Pais, Michael Field, Ellenore Martin, Perrine Charles, Thomas Courtin, Boris Keren, Maria Iascone, Anna Cereda, Gemma Poke, Véronique Abadie, Christel Chalouhi, Padmini Parthasarathy, Benjamin J. Halliday, Stephen P. Robertson, Stanislas Lyonnet, Jeanne Amiel, Christopher T. Gordon

Am J Hum Genet. 2021 Jun 3; 108(6): 1138–1150. Published online 2021 Apr 27. doi: 10.1016/j.ajhg.2021.04.007

PMCID:: PMC8206162

Abstract Article PDF–3.0M

Select item 78206212.

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 74972893.

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 71609384.

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability

Živilė Maldžienė, Evelina M. Vaitėnienė, Beata Aleksiūnienė, Algirdas Utkus, Eglė Preikšaitienė

BMC Med Genomics. 2020; 13: 63. Published online 2020 Apr 16. doi: 10.1186/s12920-020-0711-4

PMCID:: PMC7160938

Abstract Article PDF–2.6M

Select item 47713975.

Medical management of epileptic seizures: challenges and solutions

Anand K Sarma, Nabil Khandker, Lisa Kurczewski, Gretchen M Brophy

Neuropsychiatr Dis Treat. 2016; 12: 467–485. Published online 2016 Feb 24. doi: 10.2147/NDT.S80586

PMCID:: PMC4771397

Abstract Article PDF–504K

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

Abstract Article PDF–960K

Select item 26580807.

Identification and Functional Analysis of a Novel Cyclin E/Cdk2 Substrate Ankrd17

Min Deng, Fahui Li, Bryan A. Ballif, Shan Li, Xi Chen, Lin Guo, Xin Ye

J Biol Chem. 2009 Mar 20; 284(12): 7875–7888. doi: 10.1074/jbc.M807827200

PMCID:: PMC2658080

Abstract Article PDF–2.0M

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