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1
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia
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Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

Leipoldt, M ; Erdel, M ; Bien-Willner, GA ; Smyk, M ; Theurl, M ; Yatsenko, SA ; Lupski, JR ; Lane, AH ; Shanske, AL ; Stankiewicz, P ; Scherer, G

Clinical genetics, 2007-01, Vol.71 (1), p.67-75 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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2
Application of chromosomal microarray in the evaluation of abnormal prenatal findings
Application of chromosomal microarray in the evaluation of abnormal prenatal findings
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Application of chromosomal microarray in the evaluation of abnormal prenatal findings

Yatsenko, SA ; Davis, S ; Hendrix, NW ; Surti, U ; Emery, S ; Canavan, T ; Speer, P ; Hill, L ; Clemens, M ; Rajkovic, A

Clinical genetics, 2013-07, Vol.84 (1), p.47-54 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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3
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly
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Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

Yatsenko, S A ; Cheung, S W ; Scott, D A ; Nowaczyk, M J M ; Tarnopolsky, M ; Naidu, S ; Bibat, G ; Patel, A ; Leroy, J G ; Scaglia, F ; Stankiewicz, P ; Lupski, J R

Journal of medical genetics, 2005-04, Vol.42 (4), p.328-335 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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4
Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome
Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome
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Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome

Yatsenko, SA ; Yatsenko, AN ; Szigeti, K ; Craigen, WJ ; Stankiewicz, P ; Cheung, SW ; Lupski, JR

Clinical genetics, 2004-08, Vol.66 (2), p.128-136 [Periódico revisado por pares]

Oxford, UK; Malden, USA: Munksgaard International Publishers

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5
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies
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Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

VISSERS, L. E. L. M ; STANKIEWICZ, P ; BI, W ; GEURTS VAN KESSEL, A ; LUPSKI, J. R ; VELTMAN, J. A ; YATSENKO, S. A ; CRAWFORD, E ; CRESWICK, H ; PROUD, V. K ; DE VRIES, B. B. A ; PFUNDT, R ; MARCELIS, C. L. M ; ZACKOWSKI, J

Human genetics, 2007-07, Vol.121 (6), p.697-709 [Periódico revisado por pares]

Heidelberg: Springer

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6
A natural history of a child with monosomy 5p syndrome (Cat-cry/Cri-du-chat syndrome) during the 18 years of follow-up
A natural history of a child with monosomy 5p syndrome (Cat-cry/Cri-du-chat syndrome) during the 18 years of follow-up
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A natural history of a child with monosomy 5p syndrome (Cat-cry/Cri-du-chat syndrome) during the 18 years of follow-up

Posmyk, R ; Panasiuk, B ; Yatsenko, S A ; Stankiewicz, P ; Midro, A T

Genetic counseling, 2005, Vol.16 (1), p.17 [Periódico revisado por pares]

Switzerland

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7
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
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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, Leona ; Riviello, James J. ; Nowaczyk, Malgorzata J.M. ; Zeesman, Susan ; Rosenfeld, Jill A. ; Bejjani, Bassem A. ; Shaffer, Lisa G. ; Cheung, Sau Wai ; Lupski, James R. ; Stankiewicz, Pawel ; Scaglia, Fernando

Genetics in medicine, 2012-10, Vol.14 (10), p.868-876 [Periódico revisado por pares]

United States: Elsevier Inc

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8
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)]
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)]
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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)]

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

American journal of medical genetics. Part A, 2004-07, Vol.128A (1), p.72-77 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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9
Development and validation of a CGH microarray for clinical cytogenetic diagnosis
Development and validation of a CGH microarray for clinical cytogenetic diagnosis
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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 ; Beaudet, Arthur L.

Genetics in medicine, 2005-07, Vol.7 (6), p.422-432 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Trisomy 17p10‐p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications
Trisomy 17p10‐p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications
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Trisomy 17p10‐p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications

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

American journal of medical genetics. Part A, 2005-10, Vol.138A (2), p.175-180 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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