PMC Links for Books (Select 4923270) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 47929632.

CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL

Paulina Bartuzi, Daniel D. Billadeau, Robert Favier, Shunxing Rong, Daphne Dekker, Alina Fedoseienko, Hille Fieten, Melinde Wijers, Johannes H. Levels, Nicolette Huijkman, Niels Kloosterhuis, Henk van der Molen, Gemma Brufau, Albert K. Groen, Alison M. Elliott, Jan Albert Kuivenhoven, Barbara Plecko, Gernot Grangl, Julie McGaughran, Jay D. Horton, Ezra Burstein, Marten H. Hofker, Bart van de Sluis

Nat Commun. 2016; 7: 10961. Published online 2016 Mar 11. doi: 10.1038/ncomms10961

PMCID:: PMC4792963

Abstract Article PDF–2.4M

Select item 45752683.

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies

Catrina M. Loucks, Jillian S. Parboosingh, Ranad Shaheen, Francois P. Bernier, D. Ross McLeod, Mohammed Z. Seidahmed, Erik G. Puffenberger, Carole Ober, Robert A. Hegele, Kym M. Boycott, Fowzan S. Alkuraya, A. Micheil Innes

Hum Mutat. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Hum Mutat. 2015 Oct; 36(10): 1015–1019. Published online 2015 Aug 17. doi: 10.1002/humu.22843

PMCID:: PMC4575268

Abstract Article PDF–419K

Select item 45447534.

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 44026165.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Mateusz Kolanczyk, Peter Krawitz, Jochen Hecht, Anna Hupalowska, Marta Miaczynska, Katrin Marschner, Claire Schlack, Denise Emmerich, Karolina Kobus, Uwe Kornak, Peter N Robinson, Barbara Plecko, Gernot Grangl, Sabine Uhrig, Stefan Mundlos, Denise Horn

Eur J Hum Genet. 2015 May; 23(5): 633–638. Published online 2014 Jun 11. doi: 10.1038/ejhg.2014.109

Correction in:: Eur J Hum Genet. 2015 May; 23(5): 720.

PMCID:: PMC4402616

Abstract Article PDF–1.5M

Select item 43363856.

A rare case of 3C disease: Ritscher–Schinzel syndrome presenting with recurrent talipes equinovarus

Mehmet Nuri Konya, Muhsin Elmas, Sadık Emre Erginoğlu, Murat Yeşil

Int J Surg Case Rep. 2015; 7: 130–133. Published online 2014 Nov 6. doi: 10.1016/j.ijscr.2014.10.098

PMCID:: PMC4336385

Abstract Article PDF–1.6M

Select item 38300017.

Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome

Kaitlyn J Friesen, Bernard N Chodirker, Albert E Chudley, Martin H Reed, Alison M Elliott

Springerplus. 2013; 2: 594. Published online 2013 Nov 7. doi: 10.1186/2193-1801-2-594

PMCID:: PMC3830001

Abstract Article PDF–246K

Select item 36357378.

CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling

Petro Starokadomskyy, Nathan Gluck, Haiying Li, Baozhi Chen, Mathew Wallis, Gabriel N. Maine, Xicheng Mao, Iram W. Zaidi, Marco Y. Hein, Fiona J. McDonald, Steffen Lenzner, Agnes Zecha, Hans-Hilger Ropers, Andreas W. Kuss, Julie McGaughran, Jozef Gecz, Ezra Burstein

J Clin Invest. 2013 May 1; 123(5): 2244–2256. Published online 2013 Apr 8. doi: 10.1172/JCI66466

PMCID:: PMC3635737

Abstract Article PDF–3.3M

Select item 35867449.

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

I Voineagu, L Huang, K Winden, M Lazaro, E Haan, J Nelson, J McGaughran, LS Nguyen, K Friend, A Hackett, M Field, J Gecz, D Geschwind

Mol Psychiatry. Author manuscript; available in PMC 2013 Feb 28.

Published in final edited form as: Mol Psychiatry. 2012 Jan; 17(1): 4–7. Published online 2011 Aug 9. doi: 10.1038/mp.2011.95

PMCID:: PMC3586744

Article PDF–791K

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