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1

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

Yatsenko, Svetlana A., Witchel, Selma Feldman

Journal:

Seminars in Perinatology

Year:

2017

Language:

english

File:

PDF, 1.46 MB

english, 2017

2

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

Lina Shao, Chad A. Shaw, Xin-Yan Lu, Trilochan Sahoo, Carlos A. Bacino, Seema R. Lalani, Pawel Stankiewicz, Svetlana A. Yatsenko, Yinfeng Li, Sarah Neill, Amber N. Pursley, A. Craig Chinault, Ankita P

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 155 KB

english, 2008

3

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

Oleg A Shchelochkov, M Lance Cooper, Zhishuo Ou, Sandra Peacock, Svetlana A Yatsenko, Chester W Brown, Ping Fang, Pawel Stankiewicz, Sau Wai Cheung

Journal:

Molecular Cytogenetics

Year:

2008

Language:

english

File:

PDF, 2.43 MB

english, 2008

4

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

Tas, Emir, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Sweet, Philip, Yatsenko, Alexander N., Pollock, Nijole, Rajkovic, Aleksandar, Schneck, Francis X., Yatsenko, Svetlana A., Witchel, Selma Feldma

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 244 KB

english, 2016

5

Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency

Ren, Yu, Diao, Feiyang, Katari, Sunita, Yatsenko, Svetlana, Jiang, Huaiyang, Wood-Trageser, Michelle A., Rajkovic, Aleksandar

Journal:

Molecular Genetics & Genomic Medicine

Year:

2018

Language:

english

File:

PDF, 1.42 MB

english, 2018

6

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

Aarabi, Mahmoud, Kessler, Elena, Madan-Khetarpal, Suneeta, Surti, Urvashi, Bellissimo, Daniel, Rajkovic, Aleksandar, Yatsenko, Svetlana A.

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1004 KB

english, 2018

7

Genetics of human female infertility

Yatsenko, Svetlana A, Rajkovic, Aleksandar

Journal:

Biology of Reproduction

Year:

2019

Language:

english

File:

PDF, 425 KB

english, 2019

8

High-Peak-Power Femtosecond Pulse Generation by Nonlinear Compression in a Yb-Doped Hybrid Fiber

Aleshkina, Svetlana S., Yatsenko, Yuri P., Salganskii, Mikhail Yu., Lipatov, Denis S., Senatorov, Andrei K., Tausenev, Anton V., Shepelev, Denis V., Bubnov, Mikhail M., Guryanov, Alexey N., Likhachev,

Journal:

IEEE Photonics Journal

Year:

2019

Language:

english

File:

PDF, 4.00 MB

english, 2019

9

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)]

Svetlana A. Yatsenko, Trilochan Sahoo, Melinda Rosenkranz, Roberto Mendoza-Londono, Rizwan Naeem, Fernando Scaglia

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 183 KB

english, 2004

10

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

Paweł Stankiewicz, Hannelore Thiele, Mike Schlicker, Andrea Cseke-Friedrich, Sylva Bartel-Friedrich, Svetlana A. Yatsenko, James R. Lupski, Ingo Hansmann

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 202 KB

english, 2005

11

Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype

Vijay S. Tonk, Golder N. Wilson, Svetlana A. Yatsenko, Pawel Stankiewicz, James R. Lupski, Robert C. Schutt, J.K. Northup, Gopalrao V.N. Velagaleti

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 185 KB

english, 2005

12

Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications

Svetlana A. Yatsenko, Diane Treadwell-Deering, Kevin Krull, Richard Alan Lewis, Daniel Glaze, Pawel Stankiewicz, James R. Lupski, Lorraine Potocki

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 181 KB

english, 2005

13

Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation

Paweł Stankiewicz, Alma Kuechler, C. Daniel Eller, Trilochan Sahoo, Christiane Baldermann, Ulla Lieser, Martin Hesse, Christiane Gläser, Monika Hagemann, Svetlana A. Yatsenko, Thomas Liehr, Bernhard H

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 1.20 MB

english, 2006

14

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of genitopatellar syndrome

Silke Schlaubitz, Svetlana A. Yatsenko, Laurie D. Smith, Kory L. Keller, Lisenka E. Vissers, Daryl A. Scott, Wei Wen Cai, William Reardon, Omar A. Abdul-Rahman, Edward J. Lammer, Caroline A. Lifchez,

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 285 KB

english, 2007

15

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia

Smita M. Purandare, Roberto Mendoza-Londono, Svetlana A. Yatsenko, Dobrawa Napierala, Daryl A. Scott, Tarek Sibai, Kari Casas, Patrick Wilson, Jiyun Lee, Razia Muneer, Joe C. Leonard, Faridali G. Ramj

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 295 KB

english, 2008

16

Delineation of the proximal 3q microdeletion syndrome

Marcia J. Simovich, Steven D. Bland, Daniel A. Peiffer, Kevin L. Gunderson, Sau Wai Cheung, Svetlana A. Yatsenko, Marwan Shinawi

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 305 KB

english, 2008

17

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

Svetlana A. Yatsenko, Maria del Valle Torrado, Priscilla H. Fernandes, Joanna Wiszniewska, Marta Gallego, Jorge Herrera, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 279 KB

english, 2009

18

Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation

Marcia J. Simovich, Svetlana A. Yatsenko, Sung-Hae L. Kang, Sau Wai Cheung, Martha E. Dudek, Amber Pursley, Patricia A. Ward, Ankita Patel, James R. Lupski

Journal:

Prenatal Diagnosis

Year:

2007

Language:

english

File:

PDF, 166 KB

english, 2007

19

Evidence for involvement ofTRE-2(USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

Zhishuo Ou, Małgorzata Jarmuż, Steven P. Sparagana, Jacques Michaud, Jean-Claude Décarie, Svetlana A. Yatsenko, Beata Nowakowska, Patti Furman, Chad A. Shaw, Lisa G. Shaffer, James R. Lupski, A. Craig

Journal:

Year:

2006

Language:

english

File:

PDF, 624 KB

english, 2006

20

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

Hannah C. Cheung, Svetlana A. Yatsenko, Meena Kadapakkam, Hélène Legay, Jack Su, James R. Lupski, Sharon E. Plon

Journal:

Pediatric Blood & Cancer

Year:

2012

Language:

english

File:

PDF, 363 KB

english, 2012

21

Head Bobber: An Insertional Mutation Causes Inner Ear Defects, Hyperactive Circling, and Deafness

Giuseppina Somma, Heather M. Alger, Ryan M. McGuire, Jim D. Kretlow, Fernanda R. Ruiz, Svetlana A. Yatsenko, Pawel Stankiewicz, Wilbur Harrison, Etai Funk, Antonio Bergamaschi, John S. Oghalai, Antoni

Journal:

Journal of the Association for Research in Otolaryngology

Year:

2012

Language:

english

File:

PDF, 1.08 MB

english, 2012

22

Isolation and characterization of mouse–human microcell hybrid cell clones permissive for infectious HIV particle release

Ayse K. Coskun, Marc van Maanen, David Janka, David Stockton, Pawel Stankiewicsz, Svetlana Yatsenko, Richard E. Sutton

Journal:

Year:

2007

Language:

english

File:

PDF, 798 KB

english, 2007

23

Corrigendum to “Isolation and characterization of mouse–human microcell hybrid cell clones permissive for infectious HIV particle release” [Virology 362 (2007) 283–293]

Ayse K. Coskun, Marc van Maanen, David Janka, David Stockton, Pawel Stankiewicz, Svetlana Yatsenko, Richard E. Sutton

Journal:

Year:

2007

Language:

english

File:

PDF, 67 KB

english, 2007

24

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

Jun Liao, Malini Sathanoori, Svetlana A. Yatsenko, Jie Hu, Sally J. Kochmar, Lori Hoffner, W. Allen Hogge, Urvashi Surti

Journal:

Prenatal Diagnosis

Year:

2012

Language:

english

File:

PDF, 80 KB

english, 2012

25

I1: Molecular mechanisms for rearrangements and their conveyed phenotypes in genomic disorders

Weimin Bi, Naohiro Kurotaki, Jennifer A. Lee, Svetlana A. Yatsenko, Pawel Stankiewicz, James R. Lupski

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 106 KB

english, 2005

26

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization

Yatsenko, Svetlana A., Hixson, Patricia, Roney, Erin K., Scott, Daryl A., Schaaf, Christian P., Ng, Yu-tze, Palmer, Robbin, Fisher, Richard B., Patel, Ankita, Cheung, Sau Wai, Lupski, James R.

Journal:

Year:

2012

Language:

english

File:

PDF, 845 KB

english, 2012

27

Noninvasive Prenatal Diagnosis of a Fetal Microdeletion Syndrome

Peters, David, Chu, Tianjiao, Yatsenko, Svetlana A., Hendrix, Nancy, Hogge, W. Allen, Surti, Urvashi, Bunce, Kimberly, Dunkel, Mary, Shaw, Patricia, Rajkovic, Aleksandar

Journal:

Boston Medical and Surgical Journal

Year:

2011

Language:

english

File:

PDF, 507 KB

english, 2011

28

Familial microduplication of 17q23.1-q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females

Peterson, Jess F., Ghaloul-Gonzalez, Lina, Madan-Khetarpal, Suneeta, Hartman, Jessica, Surti, Urvashi, Rajkovic, Aleksandar, Yatsenko, Svetlana A.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 395 KB

english, 2014

29

Array Comparative Genomic Hybridization Detects Chromosomal Abnormalities in Hematological Cancers That Are Not Detected by Conventional Cytogenetics

Shao, Lina, Kang, Sung-Hae L., Li, Jian, Hixson, Patricia, Taylor, Jesalyn, Yatsenko, Svetlana A., Shaw, Chad A., Milosavljevic, Aleksandar, Chang, Chung-Che, Cheung, Sau Wai, Patel, Ankita

Journal:

The Journal of Molecular Diagnostics

Year:

2010

Language:

english

File:

PDF, 662 KB

english, 2010

30

Comprehensive 5-Year Study of Cytogenetic Aberrations in 668 Infertile Men

Yatsenko, Alexander N., Yatsenko, Svetlana A., Weedin, John W., Lawrence, Amy E., Patel, Ankita, Peacock, Sandra, Matzuk, Martin M., Lamb, Dolores J., Cheung, Sau Wai, Lipshultz, Larry I.

Journal:

The Journal of Urology

Year:

2010

Language:

english

File:

PDF, 572 KB

english, 2010

31

Microarray-Based Comparative Genomic Hybridization Using Sex-Matched Reference DNA Provides Greater Sensitivity for Detection of Sex Chromosome Imbalances than Array-Comparative Genomic Hybridization with Sex-Mismatched Reference DNA

Cheung, Sau Wai, Lupski, James R., Chinault, A. Craig, Beaudet, Arthur L., Yatsenko, Svetlana A., Shaw, Chad A., Ou, Zhishuo, Pursley, Amber N., Patel, Ankita, Bi, Weimin

Journal:

The Journal of Molecular Diagnostics

Year:

2009

Language:

english

File:

PDF, 1.55 MB

english, 2009

32

Cytogenetic and molecular analyses ofde novotranslocation dic(9;13)(p11.2;p12) in an infertile male

Wiland, Ewa, Olszewska, Marta, Georgiadis, Andrew, Huleyuk, Nataliya, Panasiuk, Barbara, Zastavna, Danuta, Yatsenko, Svetlana A, Jedrzejczak, Piotr, Midro, Alina T, Yatsenko, Alexander N, Kurpisz, Mac

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 644 KB

english, 2014

33

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

Mroczkowski, Henry J., Arnold, Georgianne, Schneck, Francis X., Rajkovic, Aleksandar, Yatsenko, Svetlana A.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 456 KB

english, 2014

34

Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

Giorgio, Elisa, Rolyan, Harshvardhan, Kropp, Laura, Chakka, Anish Baswanth, Yatsenko, Svetlana, Gregorio, Eleonora Di, Lacerenza, Daniela, Vaula, Giovanna, Talarico, Flavia, Mandich, Paola, Toro, Cami

Journal:

Year:

2014

Language:

english

File:

PDF, 75 KB

english, 2014

35

Analysis of LMNB 1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

Giorgio, Elisa, Rolyan, Harshvardhan, Kropp, Laura, Chakka, Anish Baswanth, Yatsenko, Svetlana, Gregorio, Eleonora Di, Lacerenza, Daniela, Vaula, Giovanna, Talarico, Flavia, Mandich, Paola, Toro, Cami

Journal:

Year:

2013

Language:

english

File:

PDF, 1.23 MB

english, 2013

36

MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability

Wood-Trageser, Michelle A., Gurbuz, Fatih, Yatsenko, Svetlana A., Jeffries, Elizabeth P., Kotan, L. Damla, Surti, Urvashi, Ketterer, Deborah M., Matic, Jelena, Chipkin, Jacqueline, Jiang, Huaiyang, Tr

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.21 MB

english, 2014

37

Recent advances of genomic testing in perinatal medicine

Peters, David G., Yatsenko, Svetlana A., Surti, Urvashi, Rajkovic, Aleksandar

Journal:

Seminars in Perinatology

Year:

2015

Language:

english

File:

PDF, 2.67 MB

english, 2015

38

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

Yatsenko, Svetlana A., Peters, David G., Saller, Devereux N., Chu, Tianjiao, Clemens, Michelle, Rajkovic, Aleksandar

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 640 KB

english, 2015

39

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

Cheung, Sau W, Shaw, Chad A, Yu, Wei, Li, Jiangzham, Ou, Zhishuo, Patel, Ankita, Yatsenko, Svetlana A, Cooper, Mitchell L, Furman, Patti, Stankiewicz, Pawal, Lupski, James R, Chinault, A Craig, Beaude

Journal:

Genetics in Medicine

Year:

2005

Language:

english

File:

PDF, 2.10 MB

english, 2005

40

Altered DNA methylation in PAH deficient phenylketonuria

Dobrowolski, Steven F., Lyons-Weiler, James, Spridik, Kayla, Biery, Amy, Breck, Jane, Vockley, Jerry, Yatsenko, Svetlana, Sultana, Tamanna

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 305 KB

english, 2015

41

Hormad1 Mutation Disrupts Synaptonemal Complex Formation, Recombination, and Chromosome Segregation in Mammalian Meiosis

Shin, Yong-Hyun, Choi, Youngsok, Erdin, Serpil Uckac, Yatsenko, Svetlana A., Kloc, Malgorzata, Yang, Fang, Wang, P. Jeremy, Meistrich, Marvin L., Rajkovic, Aleksandar, Hawley, R. Scott

Journal:

Year:

2010

Language:

english

File:

PDF, 13.21 MB

english, 2010

42

Cell-free nucleic acids as non-invasive biomarkers of gynecological disorders, fetal aneuploidy and constitutional maternal chromosomal mosaicism: Figure 1

Chu, Tianjiao, Yeniterzi, Suveyda, Yatsenko, Svetlana A., Dunkel, Mary, Rajkovic, Aleksandar, Hogge, W. Allen, Peters, David G.

Journal:

Human Reproduction Update

Year:

2015

Language:

english

File:

PDF, 213 KB

english, 2015

43

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

Campbell, Ian M., Yatsenko, Svetlana A., Hixson, Patricia, Reimschisel, Tyler, Thomas, Matthew, Wilson, William, Dayal, Usha, Wheless, James W., Crunk, Amy, Curry, Cynthia, Parkinson, Nicole, Fishman,

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 941 KB

english, 2012

44

Response to Sahoo et al.

Yatsenko, Svetlana A., Peters, David G., Rajkovic, Aleksandar

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 273 KB

english, 2016

45

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Szafranski, Przemyslaw, Gambin, Tomasz, Dharmadhikari, Avinash V., Akdemir, Kadir Caner, Jhangiani, Shalini N., Schuette, Jennifer, Godiwala, Nihal, Yatsenko, Svetlana A., Sebastian, Jessica, Madan-Kh

Journal:

Year:

2016

Language:

english

File:

PDF, 5.10 MB

english, 2016

46

Evaluation of a Cystic Placenta: Spectrum of Genomic Changes Including GRB10 Microdeletion

Surti, Urvashi, Yatsenko, Svetlana, Hu, Jie, Bellissimo, Daniel, Parks, W. Tony, Hoffner, Lori

Journal:

Cancer Genetics

Year:

2016

Language:

english

File:

PDF, 37 KB

english, 2016

47

CNTN6copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders

Hu, Jie, Liao, Jun, Sathanoori, Malini, Kochmar, Sally, Sebastian, Jessica, Yatsenko, Svetlana A., Surti, Urvashi

Journal:

Journal of Neurodevelopmental Disorders

Year:

2015

Language:

english

File:

PDF, 1.63 MB

english, 2015

48

SPIE Proceedings [SPIE Remote Sensing - Barcelona, Spain (Monday 8 September 2003)] Remote Sensing for Agriculture, Ecosystems, and Hydrology V - A monitoring system for agricultural crops on chlorophyll basis

Kochubey, Svetlana M., Yatsenko, Vitaliy A., Owe, Manfred, D'Urso, Guido, Moreno, Jose F., Calera, Alfonso

Year:

2004

Language:

english

File:

PDF, 865 KB

english, 2004

49

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

Beck, Megan, Peterson, Jess F., McConnell, Juliann, McGuire, Marianne, Asato, Miya, Losee, Joseph E., Surti, Urvashi, Madan-Khetarpal, Suneeta, Rajkovic, Aleksandar, Yatsenko, Svetlana A.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.63 MB

english, 2015

50

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

Bregand-White, Julia, Saller, Devereux N., Clemens, Michele, Surti, Urvashi, Yatsenko, Svetlana A., Rajkovic, Aleksandar

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1.36 MB

english, 2016