Svetlana A Yatsenko

Svetlana A Yatsenko

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Svetlana A Yatsenko

Svetlana A Yatsenko

Publications by authors named "Svetlana A Yatsenko"

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Dermatofibrosarcoma protuberans with fibrosarcomatous transformation: our experience, molecular evaluation of selected cases, and short literature review.

Int J Dermatol 2019 Nov 10;58(11):1246-1252. Epub 2019 Apr 10.

Bone and Soft Tissue Pathology Department, University of Pittsburgh Medical Center Shadyside Hospital, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1111/ijd.14462DOI Listing
November 2019

A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency.

Genet Med 2019 Oct 5;21(10):2275-2284. Epub 2019 Apr 5.

Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.

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http://www.nature.com/articles/s41436-019-0505-2
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http://dx.doi.org/10.1038/s41436-019-0505-2DOI Listing
October 2019

Genetics of human female infertility†.

Biol Reprod 2019 Sep;101(3):549-566

Department of Pathology, University of California San Francisco, San Francisco, CA.

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http://dx.doi.org/10.1093/biolre/ioz084DOI Listing
September 2019

Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation.

Eur J Med Genet 2019 Apr 23;62(4):239-242. Epub 2018 Jul 23.

Medical Genetics & Genomics Laboratories, Magee-Womens Hospital of UPMC, Pittsburgh, PA, Unitetd States; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA, Unitetd States; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, Unitetd States; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, Unitetd States; Magee-Womens Research Institute, Pittsburgh, PA, Unitetd States. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.021DOI Listing
April 2019

Early Bilateral Gonadoblastoma Associated With 45,X/46,XY Mosaicism: The Spectrum of Undifferentiated Gonadal Tissue and Gonadoblastoma in the First Months of Life.

Pediatr Dev Pathol 2019 Jul-Aug;22(4):380-385. Epub 2019 Jan 15.

2 Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.

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http://journals.sagepub.com/doi/10.1177/1093526618824469
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http://dx.doi.org/10.1177/1093526618824469DOI Listing
January 2019

Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes.

Am J Med Genet A 2018 12 10;176(12):2720-2732. Epub 2018 Oct 10.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania.

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http://doi.wiley.com/10.1002/ajmg.a.40646
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http://dx.doi.org/10.1002/ajmg.a.40646DOI Listing
December 2018

Synchronous Bilateral Tubal Serous Carcinomas in a Patient With Exon 13 Duplication and Loss of Function of BRCA1.

Int J Gynecol Pathol 2018 Mar;37(2):117-122

Departments of Pathology, Division of Breast & Gynecologic Pathology (G.T.G., K.M.S., S.A.Y., R.B., E.E.) Obstetrics, Gynecology and Reproductive Sciences (S.A.Y., A.R., A.O.) Radiology (R.A.), University of Pittsburgh School of Medicine Pittsburgh Cytogenetics Laboratory, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC (S.A.Y., A.R.) Magee-Women's Research Institute (MWRI) (A.R., A.O., R.B., E.E.) Department of Human Genetics and Cancer Genetics, University of Pittsburgh (A.R., N.J.C.), Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1097/PGP.0000000000000392DOI Listing
March 2018

Chromosomal instability in women with primary ovarian insufficiency.

Hum Reprod 2018 03;33(3):531-538

Department of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine, University of Pittsburgh, 300 Halket Street, Pittsburgh, PA 15213, USA.

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https://academic.oup.com/humrep/article/33/3/531/4841816
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http://dx.doi.org/10.1093/humrep/dey012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454535PMC
March 2018

Importance of complete phenotyping in prenatal whole exome sequencing.

Hum Genet 2018 Feb 1;137(2):175-181. Epub 2018 Feb 1.

Medical Genetics and Genomics Laboratories, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1007/s00439-017-1860-1DOI Listing
February 2018

Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3.

Am J Med Genet A 2017 Dec 19;173(12):3153-3157. Epub 2017 Oct 19.

Department of Obstetrics, Gynecology, and Reproductive Sciences, Magee-Womens Hospital, University of Pittsburgh, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38497DOI Listing
December 2017

Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region.

J Med Genet 2017 10 8;54(10):705-709. Epub 2017 May 8.

Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.

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http://dx.doi.org/10.1136/jmedgenet-2016-104128DOI Listing
October 2017

High Levels of Sample-to-Sample Variation Confound Data Analysis for Non-Invasive Prenatal Screening of Fetal Microdeletions.

PLoS One 2016 1;11(6):e0153182. Epub 2016 Jun 1.

Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0153182PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4889033PMC
July 2017

Genetic approach to ambiguous genitalia and disorders of sex development: What clinicians need to know.

Semin Perinatol 2017 06 22;41(4):232-243. Epub 2017 May 22.

Division of Pediatric Endocrinology, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, 4401 Penn Ave, Pittsburgh, PA 15224. Electronic address:

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http://dx.doi.org/10.1053/j.semperi.2017.03.016DOI Listing
June 2017

The Genomic Landscape of PAX5, IKZF1, and CDKN2A/B Alterations in B-Cell Precursor Acute Lymphoblastic Leukemia.

Cytogenet Genome Res 2016 18;150(3-4):242-252. Epub 2017 Feb 18.

Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1159/000456572DOI Listing
April 2017

Genomic Characterization of a Metastatic Alveolar Rhabdomyosarcoma Case Using FISH Studies and CGH+SNP Microarray Revealing FOXO1-PAX7 Rearrangement with MYCN and MDM2 Amplification and RB1 Region Loss.

Cytogenet Genome Res 2016 3;150(3-4):253-261. Epub 2017 Mar 3.

Department of Pathology, Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1159/000458167DOI Listing
April 2017

Highly heterogeneous genomic landscape of uterine leiomyomas by whole exome sequencing and genome-wide arrays.

Fertil Steril 2017 02 23;107(2):457-466.e9. Epub 2016 Nov 23.

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania; Department of Pathology, Magee-Women's Hospital of University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania; Magee-Women's Research Institute, Pittsburgh, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2016.10.035DOI Listing
February 2017

Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.

Am J Med Genet A 2017 Jan 20;173(1):221-224. Epub 2016 Sep 20.

Pediatric Endocrinology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37981DOI Listing
January 2017

Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.

Am J Med Genet A 2016 09 10;170(9):2365-71. Epub 2016 Jun 10.

Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37793DOI Listing
September 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

Response to Sahoo et al.

Genet Med 2016 Mar 21;18(3):277. Epub 2016 Jan 21.

Department of Obstetrics, Gynecology, and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.2015.195DOI Listing
March 2016

Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up.

Genet Med 2015 Oct 8;17(10):836-8. Epub 2015 Jan 8.

Department of Obstetrics, Gynecology, and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.2014.197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496325PMC
October 2015

Cell-free nucleic acids as non-invasive biomarkers of gynecological disorders, fetal aneuploidy and constitutional maternal chromosomal mosaicism.

Hum Reprod Update 2015 Sep-Oct;21(5):690-2. Epub 2015 Mar 12.

Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA Center for Fetal Medicine, Magee-Women's Research Institute, Pittsburgh, PA, USA

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https://academic.oup.com/humupd/article-lookup/doi/10.1093/h
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http://dx.doi.org/10.1093/humupd/dmv015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296407PMC
October 2015

CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.

J Neurodev Disord 2015 6;7(1):26. Epub 2015 Aug 6.

Pittsburgh Cytogenetics Laboratory, Center of Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA ; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA ; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.

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http://dx.doi.org/10.1186/s11689-015-9122-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528395PMC
August 2015

Reproductive aging and MCM8/9.

Oncotarget 2015 Jun;6(18):15750-1

Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4599234PMC
http://dx.doi.org/10.18632/oncotarget.4589DOI Listing
June 2015

Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene.

Am J Med Genet A 2015 May 21;167A(5):1047-53. Epub 2015 Mar 21.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36839DOI Listing
May 2015

X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.

N Engl J Med 2015 May 13;372(22):2097-107. Epub 2015 May 13.

From the Departments of Obstetrics, Gynecology, and Reproductive Sciences (A.N.Y., A.P.G., J.S., A. Rajkovic, S.A.Y.) and Urology (T.J.), University of Pittsburgh School of Medicine, and the Department of Biological Sciences, University of Pittsburgh, Kenneth P. Dietrich School of Arts and Sciences (A.J.B.) - all in Pittsburgh; the Institute of Human Genetics (A. Röpke, F.T.) and Center of Reproductive Medicine and Andrology (B.W., S.K., S.S.), University of Münster, Münster, Germany; and the Department of Reproductive Biology and Stem Cells, Institute of Human Genetics, Polish Academy of Sciences, Poznań (M.O., M.K.).

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http://dx.doi.org/10.1056/NEJMoa1406192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470617PMC
May 2015

Recent advances of genomic testing in perinatal medicine.

Semin Perinatol 2015 Feb 28;39(1):44-54. Epub 2014 Nov 28.

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA; Magee-Womens Research Institute, University of Pittsburgh, 204 Craft Ave, Pittsburgh, PA 15213; Department of Pathology, University of Pittsburgh, Pittsburgh, PA; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA.

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http://dx.doi.org/10.1053/j.semperi.2014.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4883661PMC
February 2015

Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype.

Clin Case Rep 2015 Feb 15;3(2):92-5. Epub 2014 Oct 15.

Division of Medical Genetics, Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Hospital of University of Pittsburgh Medical Center Pittsburgh, Pennsylvania ; Department of Pathology, University of Pittsburgh School of Medicine Pittsburgh, Pennsylvania ; Department of Human Genetics, University of Pittsburgh School of Medicine Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1002/ccr3.162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352360PMC
February 2015

MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.

Am J Hum Genet 2014 Dec;95(6):754-62

Department of Obstetrics, Gynecology, and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA 15213, USA; Department of Pathology, University of Pittsburgh, Pittsburgh, PA 15261, USA; Department of Human Genetics, University of Pittsburgh, PA 15261, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259971PMC
December 2014

Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism.

Am J Med Genet A 2014 Oct 29;164A(10):2623-6. Epub 2014 Jul 29.

Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36627DOI Listing
October 2014

Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male.

Mol Cytogenet 2014 Feb 21;7(1):14. Epub 2014 Feb 21.

Institute of Human Genetics Polish Academy of Sciences, Department of Reproductive Biology and Stem Cells, Strzeszynska 32, Poznan 60-479, Poland.

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http://dx.doi.org/10.1186/1755-8166-7-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3944724PMC
February 2014

Prenatal detection of del(10)(q11.2) mosaicism in chorionic villus specimens likely caused by a common chromosomal fragile site FRA10G is associated with a normal phenotype.

Prenat Diagn 2012 Dec 26;32(12):1166-9. Epub 2012 Sep 26.

Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1002/pd.3977DOI Listing
December 2012

Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma.

Pediatr Blood Cancer 2012 May 16;58(5):801-5. Epub 2011 Jun 16.

Texas Children's Cancer Center, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/pbc.23219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3202030PMC
May 2012

Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome.

Am J Med Genet A 2009 Dec;149A(12):2723-30

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.33112DOI Listing
December 2009

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.

Hum Mol Genet 2009 Jun 17;18(11):1924-36. Epub 2009 Mar 17.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/ddp114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2678925PMC
June 2009

Delineation of the proximal 3q microdeletion syndrome.

Am J Med Genet A 2008 Jul;146A(13):1729-35

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.32292DOI Listing
July 2008

Development and validation of a CGH microarray for clinical cytogenetic diagnosis.

Genet Med 2005 Jul-Aug;7(6):422-32

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.109701.GIM.0000170992.63691.32DOI Listing
September 2005

Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.

Am J Med Genet A 2005 Sep;138(1):11-7

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.30910DOI Listing
September 2005

Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)].

Am J Med Genet A 2004 Jul;128A(1):72-7

Department of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children's Hospital, Clinical Care Center, 6621 Fannin, Houston, TX 77030, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30094
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http://dx.doi.org/10.1002/ajmg.a.30094DOI Listing
July 2004