S
Svetlana A. Yatsenko
Researcher at University of Pittsburgh
Publications - 121
Citations - 4092
Svetlana A. Yatsenko is an academic researcher from University of Pittsburgh. The author has contributed to research in topics: Comparative genomic hybridization & Exome sequencing. The author has an hindex of 30, co-authored 104 publications receiving 3508 citations. Previous affiliations of Svetlana A. Yatsenko include Baylor College of Medicine.
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Journal ArticleDOI
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
Lorraine Potocki,Weimin Bi,Diane Treadwell-Deering,Claudia M.B. Carvalho,Anna Eifert,Anna Eifert,Ellen M. Friedman,Ellen M. Friedman,Daniel G. Glaze,Daniel G. Glaze,Kevin R. Krull,Kevin R. Krull,Jennifer A. Lee,Richard A. Lewis,Roberto Mendoza-Londono,Patricia Robbins-Furman,Chad A. Shaw,Xin Shi,George Weissenberger,Marjorie Withers,Svetlana A. Yatsenko,Elaine H. Zackai,Pawel Stankiewicz,James R. Lupski,James R. Lupski +24 more
TL;DR: The critical region for Potocki-Lupski syndrome is refined to a 1.3-Mb genomic interval that contains the dosage-sensitive RAI1 gene and lends further support for the concept that genomic architecture incites genomic instability.
Journal ArticleDOI
Development and validation of a CGH microarray for clinical cytogenetic diagnosis
Sau Wai Cheung,Chad A. Shaw,Wei Yu,Jiangzham Li,Zhishuo Ou,Ankita Patel,Svetlana A. Yatsenko,M.L. Cooper,Patti Furman,Pawal Stankiewicz,James R. Lupski,A. Craig Chinault,Arthur L. Beaudet +12 more
TL;DR: The chromosome microarray analysis (CMA) results were entirely consistent with previous cytogenetic and FISH findings and is an attractive alternative to telomere FISH and locus-specific FISH, but it does not include uniform coverage across the arms of each chromosome and is not intended to substitute for a standard karyotype.
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X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.
Alexander N. Yatsenko,Andrew Georgiadis,Albrecht Röpke,Andrea J. Berman,Thomas M. Jaffe,Marta Olszewska,Birgit Westernströer,Joseph S. Sanfilippo,Maciej Kurpisz,Aleksandar Rajkovic,Svetlana A. Yatsenko,Sabine Kliesch,Stefan Schlatt,Frank Tüttelmann +13 more
TL;DR: Hemizygous TEX11 mutations were a common cause of meiotic arrest and azoospermia in infertile men and were found to resemble the phenotype of Tex11-deficient male mice.
Journal ArticleDOI
Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases
Xinyan Lu,Chad A. Shaw,Ankita Patel,Jiangzhen Li,M. Lance Cooper,William R. Wells,Cathy Sullivan,Trilochan Sahoo,Svetlana A. Yatsenko,Carlos A. Bacino,Pawel Stankiewicz,Zhishu Ou,A. Craig Chinault,Arthur L. Beaudet,James R. Lupski,Sau Wai Cheung,Patricia A. Ward +16 more
TL;DR: Improved diagnostic potential of CMA is illustrated by 90 cases identified with 51 cryptic microdeletions and 39 predicted apparent reciprocal microduplications in 13 specific chromosomal regions associated with 11 known genomic disorders.
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Hormad1 mutation disrupts synaptonemal complex formation, recombination, and chromosome segregation in mammalian meiosis.
Yong-Hyun Shin,Youngsok Choi,Serpil Uckac Erdin,Svetlana A. Yatsenko,Malgorzata Kloc,Fang Yang,P. Jeremy Wang,Marvin L. Meistrich,Aleksandar Rajkovic,Aleksandar Rajkovic +9 more
TL;DR: Hormad1 deficiency abolishes γH2AX, ATR, and BRCA1 localization to the sex chromosomes and causes transcriptional de-repression on the X chromosome, and HORMAD1 is therefore a critical component of the synaptonemal complex that affects synapsis, recombination, and meiotic sex chromosome inactivation and transcriptional silencing.