PMC Links for Books (Select 5306672) - PMC

Select item 93052071.

Expanding the phenotype of HNRNPU‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature

James Taylor, Michael Spiller, Kara Ranguin, Antonio Vitobello, Christophe Philippe, Ange‐Line Bruel, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Marjolaine Willems, Bertrand Isidor, Kristen Park, Meena Balasubramanian

Am J Med Genet A. 2022 May; 188(5): 1497–1514. Published online 2022 Feb 9. doi: 10.1002/ajmg.a.62677

PMCID:: PMC9305207

Abstract Article PDF–2.6M

Select item 81140482.

Pharmacological Treatment of Severe Breathing Abnormalities in a Case of HNRNPU Epileptic Encephalopathy

Carlotta Spagnoli, Susanna Rizzi, Grazia Gabriella Salerno, Daniele Frattini, Juha Koskenvuo, Carlo Fusco

Mol Syndromol. 2021 Apr; 12(2): 101–105. Published online 2021 Jan 11. doi: 10.1159/000512566

PMCID:: PMC8114048

Abstract Article PDF–210K

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 74697914.

Clinical and genetic characteristics of patients with Doose syndrome

Nodoka Hinokuma, Mitsuko Nakashima, Hideyuki Asai, Kazuyuki Nakamura, Shinjiro Akaboshi, Masataka Fukuoka, Masami Togawa, Shingo Oana, Koyo Ohno, Mariko Kasai, Chikako Ogawa, Kazuna Yamamoto, Kiyohito Okumiya, Pin Fee Chong, Ryutaro Kira, Shumpei Uchino, Tetsuhiro Fukuyama, Tomoe Shinagawa, Yohane Miyata, Yuichi Abe, Akira Hojo, Kozue Kobayashi, Yoshihiro Maegaki, Nobutsune Ishikawa, Hiroko Ikeda, Masano Amamoto, Takeshi Mizuguchi, Kazuhiro Iwama, Toshiyuki Itai, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato

Epilepsia Open. 2020 Sep; 5(3): 442–450. Published online 2020 Jul 23. doi: 10.1002/epi4.12417

PMCID:: PMC7469791

Abstract Article PDF–546K

Select item 65893565.

A map of constrained coding regions in the human genome

James M. Havrilla, Brent S. Pedersen, Ryan M. Layer, Aaron R. Quinlan

Nat Genet. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Nat Genet. 2019 Jan; 51(1): 88–95. Published online 2018 Dec 10. doi: 10.1038/s41588-018-0294-6

PMCID:: PMC6589356

Abstract Article PDF–651K

Select item 65559086.

De Novo Mutations in HNRNPU Result in a Neurodevelopmental Syndrome

T Michael Yates, Pradeep Vasudevan, Kate E Chandler, Deirdre E Donnelly, Zornitza Stark, Simon Sadedin, Josh Willoughby, Broad Center for Mendelian Genomics, DDD study, Meena Balasubramanian

Am J Med Genet A. Author manuscript; available in PMC 2019 Jun 8.

Published in final edited form as: Am J Med Genet A. 2017 Nov; 173(11): 3003–3012. Published online 2017 Sep 25. doi: 10.1002/ajmg.a.38492

PMCID:: PMC6555908

Abstract Article PDF–616K

Select item 54739407.

SAF-A Regulates Interphase Chromosome Structure through Oligomerization with Chromatin-Associated RNAs

Ryu-Suke Nozawa, Lora Boteva, Dinesh C. Soares, Catherine Naughton, Alison R. Dun, Adam Buckle, Bernard Ramsahoye, Peter C. Bruton, Rebecca S. Saleeb, Maria Arnedo, Bill Hill, Rory R. Duncan, Sutherland K. Maciver, Nick Gilbert

Cell. 2017 Jun 15; 169(7): 1214–1227.e18. doi: 10.1016/j.cell.2017.05.029

PMCID:: PMC5473940

Abstract Article

Select item 53608448.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Sandrine Passemard, Sandra Chantot-Bastaraud, Marie-Laure Moutard, Pankaj B. Agrawal, Grace VanNoy, Joan M. Stoler, David J. Amor, Thierry Billette de Villemeur, Diane Doummar, Caroline Alby, Valérie Cormier-Daire, Catherine Garel, Pauline Marzin, Sophie Scheidecker, Anne de Saint-Martin, Edouard Hirsch, Christian Korff, Armand Bottani, Laurence Faivre, Alain Verloes, Christine Orzechowski, Lydie Burglen, Bruno Leheup, Joelle Roume, Joris Andrieux, Frenny Sheth, Chaitanya Datar, Michael J. Parker, Laurent Pasquier, Sylvie Odent, Sophie Naudion, Marie-Ange Delrue, Cédric Le Caignec, Marie Vincent, Bertrand Isidor, Florence Renaldo, Fiona Stewart, Annick Toutain, Udo Koehler, Birgit Häckl, Celina von Stülpnagel, Gerhard Kluger, Rikke S. Møller, Deb Pal, Tord Jonson, Maria Soller, Nienke E. Verbeek, Mieke M. van Haelst, Carolien de Kovel, Bobby Koeleman, Glen Monroe, Gijs van Haaften, DDD Study, Tania Attié-Bitach, Lucile Boutaud, Delphine Héron, Cyril Mignot

Hum Genet. 2017; 136(4): 463–479. Published online 2017 Mar 10. doi: 10.1007/s00439-017-1772-0

PMCID:: PMC5360844

Abstract Article PDF–2.3M

Select item 50239429.

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

Carolien G.F. de Kovel, Eva H. Brilstra, Marjan J.A. van Kempen, Ruben van‘t Slot, Isaac J. Nijman, Zaid Afawi, Peter De Jonghe, Tania Djémié, Renzo Guerrini, Katia Hardies, Ingo Helbig, Rik Hendrickx, Moine Kanaan, Uri Kramer, Anna‐Elina E. Lehesjoki, Johannes R. Lemke, Carla Marini, Davide Mei, Rikke S. Møller, Manuela Pendziwiat, Hannah Stamberger, Arvid Suls, Sarah Weckhuysen, EuroEPINOMICS RES Consortium, Bobby P.C. Koeleman, Balling R, Barisic N, Baulac S, Caglayan HS, Craiu DC, Depienne C, Gormley P, Hjalgrim H, Hoffman‐Zacharska D, Jähn J, Klein KM, Komarek V, LeGuern E, Lerche H, May P, Muhle H, Pal D, Palotie A, Rosenow F, Selmer K, Serratosa JM, Sisodiya SM, Stephani U, Sterbova K, Striano P, Talvik T, van Haelst M, Verbeek N, von Spiczak S, Weber YG

Mol Genet Genomic Med. 2016 Sep; 4(5): 568–580. Published online 2016 Jul 30. doi: 10.1002/mgg3.235

PMCID:: PMC5023942

Abstract Article PDF–392K

Select item 454475310.

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 377301111.

De novo mutations in the classic epileptic encephalopathies

Epi4K and EPGP Investigators

Nature. Author manuscript; available in PMC 2014 Mar 13.

Published in final edited form as: Nature. 2013 Sep 12; 501(7466): 217–221. Published online 2013 Aug 11. doi: 10.1038/nature12439

PMCID:: PMC3773011

Abstract Article PDF–764K

Select item 337506412.

Clinical application of exome sequencing in undiagnosed genetic conditions

Anna C Need, Vandana Shashi, Yuki Hitomi, Kelly Schoch, Kevin V Shianna, Marie T McDonald, Miriam H Meisler, David B Goldstein

J Med Genet. 2012 Jun; 49(6): 353–361. Published online 2012 May 11. doi: 10.1136/jmedgenet-2012-100819

PMCID:: PMC3375064

Abstract Article PDF–221K

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