PMC Articles for MedGen (Select 862776) - PMC

Select item 99908221.

Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia

Puneeth H. Somashekar, Parneet Kaur, Joshi Stephen, Vishal Singh Guleria, Rajagopal Kadavigere, Katta Mohan Girisha, Stephanie Bielas, Priyanka Upadhyai, Anju Shukla

Clin Genet. Author manuscript; available in PMC 2023 Mar 7.

Published in final edited form as: Clin Genet. 2021 Apr; 99(4): 594–600. Published online 2021 Jan 28. doi: 10.1111/cge.13928

PMCID:: PMC9990822

Abstract Article PDF–858K

Select item 83820942.

Risk of sudden cardiac death in EXOSC5-related disease

Daniel G. Calame, Isabella Herman, Jawid M. Fatih, Haowei Du, Gulsen Akay Tayfun, Shalini N. Jhangiani, Zeynep Coban-Akdemir, Dianna M. Milewicz, Richard A. Gibbs, Jennifer E. Posey, Dana Marafi, Jill V. Hunter, Yuxin Fan, James R. Lupski, Christina Y. Miyake

Am J Med Genet A. Author manuscript; available in PMC 2022 Aug 1.

Published in final edited form as: Am J Med Genet A. 2021 Aug; 185(8): 2532–2540. Published online 2021 Jun 4. doi: 10.1002/ajmg.a.62352

PMCID:: PMC8382094

Abstract Article PDF–1010K

Select item 80758753.

Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model

Jose Ichisima, Naoya M. Suzuki, Bumpei Samata, Tomonari Awaya, Jun Takahashi, Masatoshi Hagiwara, Tatsutoshi Nakahata, Megumu K. Saito

J Hum Genet. 2019; 64(5): 445–458. Published online 2019 Mar 8. doi: 10.1038/s10038-019-0574-8

PMCID:: PMC8075875

Abstract Article PDF–3.3M

Select item 77164674.

The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy

Xuyun Hu, Di Wu, Yuchuan Li, Liya Wei, Xiaoqiao Li, Miao Qin, Hongdou Li, Mengting Li, Shaoke Chen, Chunxiu Gong, Yiping Shen

BMC Med Genomics. 2020; 13: 181. Published online 2020 Dec 4. doi: 10.1186/s12920-020-00831-9

PMCID:: PMC7716467

Abstract Article PDF–1.4M

Select item 67313525.

Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1

Norbert F. Ajeawung, Thi Tuyet Mai Nguyen, Linchao Lu, Thomas J. Kucharski, Justine Rousseau, Sirinart Molidperee, Joshua Atienza, Isabel Gamache, Weidong Jin, Sharon E. Plon, Brendan H. Lee, Jose G. Teodoro, Lisa L. Wang, Philippe M. Campeau

Am J Hum Genet. 2019 Sep 5; 105(3): 625–630. Published online 2019 Jul 11. doi: 10.1016/j.ajhg.2019.06.011

PMCID:: PMC6731352

Abstract Article PDF–1.0M

Select item 57869306.

Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation

Anas Salih, Susumu Inoue, Nkechi Onwuzurike

BMJ Case Rep. 2018; 2018: bcr2017222384. Published online 2018 Jan 23. doi: 10.1136/bcr-2017-222384

PMCID:: PMC5786930

Abstract Article PDF–724K

Select item 57259617.

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly and pigmentary abnormalities

Magalie S. Leduc, Zhiyv Niu, Weimin Bi, Wenmiao Zhu, Irene Miloslavskaya, Theodore Chiang, Haley Streff, John R. Seavitt, Steve Murray, Christine Eng, Audrey Chan, Yaping Yang, Seema R. Lalani

Am J Med Genet A. Author manuscript; available in PMC 2017 Dec 12.

Published in final edited form as: Am J Med Genet A. 2016 Aug; 170(8): 2206–2211. Published online 2016 Jun 2. doi: 10.1002/ajmg.a.37780

PMCID:: PMC5725961

Abstract Article PDF–621K

Select item 48053118.

ATR promotes cilia signalling: links to developmental impacts

Tom Stiff, Teresa Casar Tena, Mark O'Driscoll, Penny A. Jeggo, Melanie Philipp

Hum Mol Genet. 2016 Apr 15; 25(8): 1574–1587. Published online 2016 Feb 11. doi: 10.1093/hmg/ddw034

PMCID:: PMC4805311

Abstract Article PDF–1003K

Select item 46134699.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Jianling Ji, Hane Lee, Bob Argiropoulos, Naghmeh Dorrani, John Mann, Julian A Martinez-Agosto, Natalia Gomez-Ospina, Natalie Gallant, Jonathan A Bernstein, Louanne Hudgins, Leah Slattery, Bertrand Isidor, Cédric Le Caignec, Albert David, Ewa Obersztyn, Barbara Wiśniowiecka-Kowalnik, Michelle Fox, Joshua L Deignan, Eric Vilain, Emily Hendricks, Margaret Horton Harr, Sarah E Noon, Jessi R Jackson, Alisha Wilkens, Ghayda Mirzaa, Noriko Salamon, Jeff Abramson, Elaine H Zackai, Ian Krantz, A Micheil Innes, Stanley F Nelson, Wayne W Grody, Fabiola Quintero-Rivera

Eur J Hum Genet. 2015 Oct; 23(11): 1473–1481. Published online 2015 May 6. doi: 10.1038/ejhg.2015.71

PMCID:: PMC4613469

Abstract Article PDF–2.3M

Select item 458777710.

Mutation in WDR4 impairs tRNA m⁷G₄₆ methylation and causes a distinct form of microcephalic primordial dwarfism

Ranad Shaheen, Ghada M H Abdel-Salam, Michael P. Guy, Rana Alomar, Mohamed S. Abdel-Hamid, Hanan H. Afifi, Samira I. Ismail, Bayoumi A. Emam, Eric M. Phizicky, Fowzan S. Alkuraya

Genome Biol. 2015; 16: 210. Published online 2015 Sep 28. doi: 10.1186/s13059-015-0779-x

PMCID:: PMC4587777

Abstract Article PDF–1.6M

Select item 391241911.

Genomic analysis of primordial dwarfism reveals novel disease genes

Ranad Shaheen, Eissa Faqeih, Shinu Ansari, Ghada Abdel-Salam, Zuhair N. Al-Hassnan, Tarfa Al-Shidi, Rana Alomar, Sameera Sogaty, Fowzan S. Alkuraya

Genome Res. 2014 Feb; 24(2): 291–299. doi: 10.1101/gr.160572.113

PMCID:: PMC3912419

Abstract Article PDF–1.4M

Select item 357629412.

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

Aleksander Jamsheer, Anna Sowińska, Dorota Simon, Małgorzata Jamsheer-Bratkowska, Tomasz Trzeciak, Anna Latos-Bieleńska

BMC Med Genet. 2013; 14: 13. Published online 2013 Jan 24. doi: 10.1186/1471-2350-14-13

PMCID:: PMC3576294

Abstract Article PDF–966K

Select item 310951013.

Distinctive Phenotype in 9 Patients with Deletion of Chromosome 1q24-q25

Deepika D’Cunha Burkardt, Jill A. Rosenfeld, Maria Helgeson, Brad Angle, Valerie Banks, Wendy Smith, Karen W. Gripp, Jessica Moline, Rocio Moran, Dmitriy M. Niyazov, Cathy Stevens, Elaine Zackai, Robert Roger Lebel, Douglas Ashley, Nancy Kramer, Ralph S. Lachman, John M. Graham, Jr.

Am J Med Genet A. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: Am J Med Genet A. 2011 Jun; 155(6): 1336–1351. Published online 2011 May 5. doi: 10.1002/ajmg.a.34049

PMCID:: PMC3109510

Abstract Article PDF–4.1M

Select item 306950314.

Identification of a Novel C16orf57 Mutation in Athabaskan Patients with Poikiloderma with Neutropenia

Carol Clericuzio, Karine Harutyunyan, Weidong Jin, Robert P. Erickson, Alan D. Irvine, W.H. Irwin McLean, Yaran Wen, Rochelle Bagatell, Thomas A. Griffin, Tor A. Shwayder, Sharon E. Plon, Lisa L. Wang

Am J Med Genet A. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Am J Med Genet A. 2011 Feb; 155(2): 337–342. Published online 2010 Dec 22. doi: 10.1002/ajmg.a.33807

PMCID:: PMC3069503

Abstract Article PDF–131K

Select item 280174315.

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

Ludovica Volpi, Gaia Roversi, Elisa Adele Colombo, Nico Leijsten, Daniela Concolino, Andrea Calabria, Maria Antonietta Mencarelli, Michele Fimiani, Fabio Macciardi, Rolph Pfundt, Eric F.P.M. Schoenmakers, Lidia Larizza

Am J Hum Genet. 2010 Jan 8; 86(1): 72–76. doi: 10.1016/j.ajhg.2009.11.014