PMC Links for Nucleotide (Select 1519473613) - PMC

Select item 67891531.

Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility

Arthur S. Lee, Jannette Rusch, Ana C. Lima, Abul Usmani, Ni Huang, Maarja Lepamets, Katinka A. Vigh-Conrad, Ronald E. Worthington, Reedik Mägi, Xiaobo Wu, Kenneth I. Aston, John P. Atkinson, Douglas T. Carrell, Rex A. Hess, Moira K. O’Bryan, Donald F. Conrad

Nat Commun. 2019; 10: 4626. Published online 2019 Oct 11. doi: 10.1038/s41467-019-12522-w

PMCID:: PMC6789153

Abstract Article PDF–3.5M

Select item 64667122.

Altered expression of the CSMD1 gene in the peripheral blood of schizophrenia patients

Yansong Liu, Xiaoqian Fu, Zhen Tang, Cui Li, Yong Xu, Fuquan Zhang, Deyi Zhou, Chunming Zhu

BMC Psychiatry. 2019; 19: 113. Published online 2019 Apr 15. doi: 10.1186/s12888-019-2089-4

PMCID:: PMC6466712

Abstract Article PDF–627K

Select item 63211393.

Clinical Significance of CUB and Sushi Multiple Domains 1 Inactivation in Head and Neck Squamous Cell Carcinoma

Ah Ra Jung, Young-Gyu Eun, Young Chan Lee, Joo Kyung Noh, Kee Hwan Kwon

Int J Mol Sci. 2018 Dec; 19(12): 3996. Published online 2018 Dec 12. doi: 10.3390/ijms19123996

PMCID:: PMC6321139

Abstract Article PDF–1.6M

Select item 59891564.

Genome-wide oxidative bisulfite sequencing identifies sex-specific methylation differences in the human placenta

Sungsam Gong, Michelle D Johnson, Justyna Dopierala, Francesca Gaccioli, Ulla Sovio, Miguel Constância, Gordon CS Smith, D Stephen Charnock-Jones

Epigenetics. 2018; 13(3): 228–239. Published online 2018 Feb 21. doi: 10.1080/15592294.2018.1429857

PMCID:: PMC5989156

Abstract Article PDF–1.7M

Select item 65465565.

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Hui Guo, Michael H. Duyzend, Bradley P. Coe, Carl Baker, Kendra Hoekzema, Jennifer Gerdts, Tychele N. Turner, Michael C. Zody, Jennifer S. Beighley, Shwetha C. Murali, Bradley J. Nelson, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Deborah A. Nickerson, Raphael A. Bernier, Evan E. Eichler

Genet Med. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Genet Med. 2019 Jul; 21(7): 1611–1620. Published online 2018 Dec 3. doi: 10.1038/s41436-018-0380-2

PMCID:: PMC6546556

Abstract Article PDF–1.0M

Select item 60579936.

Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection

Dragana Vuckovic, Massimo Mezzavilla, Massimiliano Cocca, Anna Morgan, Marco Brumat, Eulalia Catamo, Maria Pina Concas, Ginevra Biino, Annamaria Franzè, Umberto Ambrosetti, Mario Pirastu, Paolo Gasparini, Giorgia Girotto

Eur J Hum Genet. 2018 Aug; 26(8): 1167–1179. Published online 2018 Apr 30. doi: 10.1038/s41431-018-0126-2

PMCID:: PMC6057993

Abstract Article PDF–2.7M

Select item 39295437.

Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly

EI Ramos, GA Bien-Willner, J Li, AEO Hughes, J Giacalone, S Chasnoff, S Kulkarni, M Parmacek, FS Cole, TE Druley

Clin Genet. 2014 May; 85(5): 423–432. Published online 2013 Jun 18. doi: 10.1111/cge.12197

PMCID:: PMC3929543

Abstract Article PDF–907K

Select item 37119108.

Whole Genome SNP Genotyping and Exome Sequencing Reveal Novel Genetic Variants and Putative Causative Genes in Congenital Hyperinsulinism

Maria Carla Proverbio, Eleonora Mangano, Alessandra Gessi, Roberta Bordoni, Roberta Spinelli, Rosanna Asselta, Paola Sogno Valin, Stefania Di Candia, Ilaria Zamproni, Cecilia Diceglie, Stefano Mora, Manuela Caruso-Nicoletti, Alessandro Salvatoni, Gianluca De Bellis, Cristina Battaglia

PLoS One. 2013; 8(7): e68740. Published online 2013 Jul 15. doi: 10.1371/journal.pone.0068740

PMCID:: PMC3711910

Abstract Article PDF–153K

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