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Select item 111206701.

CHD7 Disorder—Not CHARGE Syndrome—Presenting as Isolated Cochleovestibular Dysfunction

Jef Driesen, Helen Van Hoecke, Leen Maes, Sandra Janssens, Frederic Acke, Els De Leenheer

Genes (Basel) 2024 May; 15(5): 643. Published online 2024 May 19. doi: 10.3390/genes15050643

PMCID:: PMC11120670

Abstract Article PDF–3.1M

Select item 105013052.

Expanding the reproductive organ phenotype of CHD7-spectrum disorder

Tomoki T. Nomakuchi, Melinda Danowitz, Blythe Stewart, Jacqueline Leonard, Kosuke Izumi, Ian Krantz, Thomas F. Kolon, David Langdon, Cara Skraban, Jason Van Batavia, Elaine Zackai, Kai Jiao, Rebecca Linn, Caitlin Alexander, Mark Zaontz, Maria G. Vogiatzi, Louise C. Pyle

Am J Med Genet A. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Am J Med Genet A. 2023 May; 191(5): 1418–1424. Published online 2023 Feb 16. doi: 10.1002/ajmg.a.63148

PMCID:: PMC10501305

Abstract Article PDF–329K

Select item 98054273.

Chromatin remodeler CHD7 targets active enhancer region to regulate cell type-specific gene expression in human neural crest cells

Tsukasa Sanosaka, Hironobu Okuno, Noriko Mizota, Tomoko Andoh-Noda, Miki Sato, Ryo Tomooka, Satoe Banno, Jun Kohyama, Hideyuki Okano

Sci Rep. 2022; 12: 22648. Published online 2022 Dec 31. doi: 10.1038/s41598-022-27293-6

PMCID:: PMC9805427

Abstract Article PDF–5.7M

Select item 96723664.

CHD7 regulates otic lineage specification and hair cell differentiation in human inner ear organoids

Jing Nie, Yoshitomo Ueda, Alexander J. Solivais, Eri Hashino

Nat Commun. 2022; 13: 7053. Published online 2022 Nov 17. doi: 10.1038/s41467-022-34759-8

PMCID:: PMC9672366

Abstract Article PDF–10M

Select item 94516695.

Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes

Joshua K. Meisner, Donna M. Martin

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2022 Sep 7.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2020 Mar; 184(1): 81–89. Published online 2019 Dec 13. doi: 10.1002/ajmg.c.31761

PMCID:: PMC9451669

Abstract Article PDF–479K

Select item 85482106.

HERVH-derived lncRNAs negatively regulate chromatin targeting and remodeling mediated by CHD7

Fu-Kai Hsieh, Fei Ji, Manashree Damle, Ruslan I Sadreyev, Robert E Kingston

Life Sci Alliance. 2022 Jan; 5(1): e202101127. Published online 2021 Oct 18. doi: 10.26508/lsa.202101127

PMCID:: PMC8548210

Abstract Article PDF–2.8M

Select item 83530287.

An Intronic Variant of CHD7 Identified in Autism Patients Interferes with Neuronal Differentiation and Development

Ran Zhang, Hui He, Bo Yuan, Ziyan Wu, Xiuzhen Wang, Yasong Du, Yuejun Chen, Zilong Qiu

Neurosci Bull. 2021 Aug; 37(8): 1091–1106. Published online 2021 May 4. doi: 10.1007/s12264-021-00685-w

PMCID:: PMC8353028

Abstract Article PDF–2.4M

Select item 83037918.

Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation

Roberta Onesimo, Daniela Ricci, Cristiana Agazzi, Simona Leone, Maria Petrianni, Lorenzo Orazi, Filippo Amore, Annabella Salerni, Chiara Leoni, Daniela Chieffo, Marco Tartaglia, Eugenio Mercuri, Giuseppe Zampino

Genes (Basel) 2021 Jul; 12(7): 972. Published online 2021 Jun 25. doi: 10.3390/genes12070972

PMCID:: PMC8303791

Abstract Article PDF–874K

Select item 82183309.

Discovery of a Novel CHD7 CHARGE Syndrome Variant by Integrated Omics Analyses

Jorge L Granadillo, Daniel J Wegner, Alexander J Paul, Marcia Willing, Kathleen Sisco, Matthew L Tedder, Bekim Sadikovic, Jennifer A Wambach, Dustin Baldridge, F Sessions Cole

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

Published in final edited form as: Am J Med Genet A. 2021 Feb; 185(2): 544–548. Published online 2020 Nov 13. doi: 10.1002/ajmg.a.61962

PMCID:: PMC8218330

Abstract Article PDF–559K

Select item 750320610.

CHD7 missense variants and clinical characteristics of Chinese males with infertility

Leilei Li, Ruixue Wang, Yang Yu, Hongguo Zhang, Yuting Jiang, Xiao Yang, Ruizhi Liu

Mol Genet Genomic Med. 2020 Sep; 8(9): e1372. Published online 2020 Jun 22. doi: 10.1002/mgg3.1372

PMCID:: PMC7503206

Abstract Article PDF–876K

Select item 695454811.

CHD7 gene polymorphisms in female patients with idiopathic scoliosis

Karolina Borysiak, Piotr Janusz, Mirosław Andrusiewicz, Małgorzata Chmielewska, Mateusz Kozinoga, Tomasz Kotwicki, Małgorzata Kotwicka

BMC Musculoskelet Disord. 2020; 21: 18. Published online 2020 Jan 10. doi: 10.1186/s12891-019-3031-0

PMCID:: PMC6954548

Abstract Article PDF–595K

Select item 687109012.

A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients

Gara Samara Brajadenta, Frédéric Bilan, Brigitte Gilbert-Dussardier, Alain Kitzis, Vincent Thoreau

Eur J Hum Genet. 2019 Nov; 27(11): 1683–1691. Published online 2019 Jul 9. doi: 10.1038/s41431-019-0465-7

PMCID:: PMC6871090

Abstract Article PDF–1.2M

Select item 663760613.

A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Tautvydas Rančelis, Živilė Maldžienė, Aušra Morkūnienė, Jekaterina Byčkova, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė

BMC Med Genet. 2019; 20: 127. Published online 2019 Jul 17. doi: 10.1186/s12881-019-0859-y

PMCID:: PMC6637606

Abstract Article PDF–775K

Select item 654368414.

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants

Xiang Chen, Kai Yan, Yanyan Gao, Huijun Wang, Guoqiang Chen, Bingbing Wu, Qian Qin, Lin Yang, Wenhao Zhou

BMC Med Genet. 2019; 20: 93. Published online 2019 May 30. doi: 10.1186/s12881-019-0813-z

PMCID:: PMC6543684

Abstract Article PDF–863K

Select item 640845515.

CHD7 promotes glioblastoma cell motility and invasiveness through transcriptional modulation of an invasion signature

Raquel A. C. Machado, Hannah Schneider, Carlos DeOcesano-Pereira, Flavio Lichtenstein, Fernando Andrade, André Fujita, Marina Trombetta-Lima, Michael Weller, Christian Bowman-Colin, Mari Cleide Sogayar

Sci Rep. 2019; 9: 3952. Published online 2019 Mar 8. doi: 10.1038/s41598-019-39564-w

PMCID:: PMC6408455

Abstract Article PDF–7.5M

Select item 636733816.

High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism

Catarina Inês Gonçalves, Filipa Marina Patriarca, José Maria Aragüés, Davide Carvalho, Fernando Fonseca, Sofia Martins, Olinda Marques, Bernardo Dias Pereira, José Martinez-de-Oliveira, Manuel Carlos Lemos

Sci Rep. 2019; 9: 1597. Published online 2019 Feb 7. doi: 10.1038/s41598-018-38178-y

PMCID:: PMC6367338

Abstract Article PDF–1.4M

Select item 603499517.

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

Amanda Moccia, Anshika Srivastava, Jennifer M. Skidmore, John A. Bernat, Marsha Wheeler, University of Washington Center for Mendelian Genomics, Jessica X.Chong, Deborah Nickerson, Michael Bamshad, Margaret A. Hefner, Donna M. Martin, Stephanie L. Bielas

Genet Med. Author manuscript; available in PMC 2018 Jul 6.

Published in final edited form as: Genet Med. 2018 Sep; 20(9): 1022–1029. Published online 2018 Jan 4. doi: 10.1038/gim.2017.233

PMCID:: PMC6034995

Abstract Article PDF–432K

Select item 583092918.

Chromatin remodeler CHD7 regulates the stem cell identity of human neural progenitors

MuhChyi Chai, Tsukasa Sanosaka, Hironobu Okuno, Zhi Zhou, Ikuko Koya, Satoe Banno, Tomoko Andoh-Noda, Yoshikuni Tabata, Rieko Shimamura, Tetsutaro Hayashi, Masashi Ebisawa, Yohei Sasagawa, Itoshi Nikaido, Hideyuki Okano, Jun Kohyama

Genes Dev. 2018 Jan 15; 32(2): 165–180. doi: 10.1101/gad.301887.117

PMCID:: PMC5830929

Abstract Article PDF–11M

Select item 579031219.

Reproductive Endocrine Phenotypes relating to CHD7 mutations in humans

Ravikumar Balasubramanian, William F. Crowley, Jr.

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2017 Dec; 175(4): 507–515. Published online 2017 Nov 20. doi: 10.1002/ajmg.c.31585