SYCP2translocation-mediated dysregulation and frameshift variants cause human male infertility

Autor: Frank Tüttelmann, Sizun Jiang, Amy J. MacQueen, Michael E. Talkowski, Samantha L.P. Schilit, Corinna Friedrich, Sabine Kliesch, Ellen Wilch, Tammy Kammin, Shreya Menon, Cynthia C. Morton, Carrie Hanscom

Publikováno v: Schilit, S L P, Menon, S, Friedrich, C, Kammin, T, Wilch, E, Hanscom, C, Jiang, S, Kliesch, S, Talkowski, M E, Tüttelmann, F, Macqueen, A J & Morton, C C 2020, ' SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility ', Am J Hum Genet, vol. 106, no. 1, pp. 41-57 . https://doi.org/10.1016/j.ajhg.2019.11.013
Am J Hum Genet

Unexplained infertility affects 2%–3% of reproductive-aged couples. One approach to identifying genes involved in infertility is to study subjects with this clinical phenotype and a de novo balanced chromosomal aberration (BCA). While BCAs may redu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4607ef50eb8f2a6e979f1b28aab7244e
https://doi.org/10.1101/641928

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

Autor: John T. Hinnant, Deborah A. Nickerson, Abid Jan, A. Eliot Shearer, Zubair M. Ahmed, Joshua D. Smith, Ellen Wilch, Gao Wang, Robert J. Morell, Mohsin Shahzad, Meghan C. Drummond, Abdul Aziz, Saima Riazuddin, Richard J.H. Smith, Wasim Ahmad, Khitab Gul, Shaheen N. Khan, Sheikh Riazuddin, Regie Lyn P. Santos-Cortez, Jay Shendure, Rachel Fisher, Michael J. Bamshad, Kwanghyuk Lee, Karen H. Friderici, Muhammad Ansar, Atteeq U. Rehman, Thomas B. Friedman, Suzanne M. Leal, Xin Wang

Publikováno v: European Journal of Human Genetics

Next-generation sequencing (NGS) of exomes and genomes has accelerated the identification of genes involved in Mendelian phenotypes. However, many NGS studies fall short of identifying causal variants, with estimates for success rates as low as 25% f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0257d00407632ff8cb30824450f2b641
https://doi.org/10.1038/ejhg.2014.266

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression

Autor: C Le Marechal, R Birkenhäger, Jill L. Elfenbein, Rachel Fisher, S M Da Silva-Costa, Arti Pandya, Edi Lúcia Sartorato, Karen H. Friderici, H Bolz, Eberhard Schneider, G. Van Camp, Richard J.H. Smith, Christian Kubisch, Hela Azaiez, Ellen Wilch, Hannie Kremer, Alessandra Murgia, Thomas Haaf, L. H. Hoefsloot, I del Castillo, Wim Wuyts

Publikováno v: Clinical Genetics, 78, 267-74
Clinical Genetics, 78, 3, pp. 267-74
Clinical genetics
Clinical Genetics
Clinical Genetics, Wiley, 2010, 78 (3), pp.267-274. ⟨10.1111/j.1399-0004.2010.01387.x⟩

Contains fulltext : 87760_1.pdf (author's version ) (Open Access) Contains fulltext : 87760_2.pdf (Publisher’s version ) (Closed access) Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-sy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d81a22f13f414b1582a35773d0e8a9c0
https://doi.org/10.1111/j.1399-0004.2010.01387.x

Pedigree Structure and Kinship Measurements of a Mid-Michigan Community: A New North American Population Isolate Identified

Autor: null Joseph D. Bonner, null Rachel Fisher, null James Klein, null Qing Lu, null Ellen Wilch, null Karen H. Friderici, null Jill L. Elfenbein, null Debra L. Schutte, null Brian C. Schutte

Publikováno v: Human Biology. 86:59

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::47078277cfc97a1e841f12435bb207c0
https://doi.org/10.13110/humanbiology.86.1.0059