Works matching AU Yatsenko, Svetlana A.

Results: 61

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

Published in:

JARO - Journal of the Association for Research in Otolaryngology, 2012, v. 13, n. 3, p. 335, doi. 10.1007/s10162-012-0316-5

By:

Somma, Giuseppina;
Alger, Heather;
McGuire, Ryan;
Kretlow, Jim;
Ruiz, Fernanda;
Yatsenko, Svetlana;
Stankiewicz, Pawel;
Harrison, Wilbur;
Funk, Etai;
Bergamaschi, Antonio;
Oghalai, John;
Mikos, Antonios;
Overbeek, Paul;
Pereira, Fred

Publication type:

Article

Recurrent Xp22.31‐Yq11 Unbalanced Translocations: Molecular Diagnosis and Clinical Implications in Three Families.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63913

By:

Daghsni, Marwa;
Sheehan, Elizabeth;
Madan‐Khetarpal, Suneeta;
Aarabi, Mahmoud;
Witchel, Selma F.;
Rajkovic, Aleksandar;
Yatsenko, Svetlana A.

Publication type:

Article

45,X/46,XY mosaicism: Clinical manifestations and long term follow‐up.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63451

By:

Alkhunaizi, Ebba;
Albrecht, Jenna Plamondon;
Aarabi, Mahmoud;
Witchel, Selma F.;
Wherrett, Diane;
Babul‐Hirji, Riyana;
Dupuis, Annie;
Chiniara, Lyne;
Chater‐Diehl, Eric;
Shago, Mary;
Shuman, Cheryl;
Rajkovic, Aleksandar;
Yatsenko, Svetlana A.;
Chitayat, David

Publication type:

Article

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

Published in:

Pediatric & Developmental Pathology, 2019, v. 22, n. 4, p. 380, doi. 10.1177/1093526618824469

By:

Berklite, Lara;
Witchel, Selma F;
Yatsenko, Svetlana A;
Schneck, Francis X;
Reyes-Múgica, Miguel

Publication type:

Article

Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database.

Published in:

Clinical Genetics, 2022, v. 102, n. 2, p. 87, doi. 10.1111/cge.14148

By:

Schmitz, Matthew J.;
Aarabi, Mahmoud;
Bashar, Ali;
Rajkovic, Aleksandar;
Gregg, Anthony R.;
Yatsenko, Svetlana A.

Publication type:

Article

Copy number alterations involving 59 ACMG‐recommended secondary findings genes.

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 577, doi. 10.1111/cge.13852

By:

Yatsenko, Svetlana A.;
Aarabi, Mahmoud;
Hu, Jie;
Surti, Urvashi;
Ortiz, Damara;
Madan‐Khetarpal, Suneeta;
Saller, Devereux N.;
Bellissimo, Daniel;
Rajkovic, Aleksandar

Publication type:

Article

Med12 gain-of-function mutation causes leiomyomas and genomic instability.

Published in:

Journal of Clinical Investigation, 2015, v. 125, n. 8, p. 3280, doi. 10.1172/JCI81534

By:

Mittal, Priya;
Yong-hyun Shin;
Yatsenko, Svetlana A.;
Castro, Carlos A.;
Surti, Urvashi;
Rajkovic, Aleksandar

Publication type:

Article

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.

Published in:

Journal of Clinical Investigation, 2015, v. 125, n. 1, p. 258, doi. 10.1172/jci78473

By:

AlAsiri, Saleh;
Basit, Sulman;
Wood-Trageser, Michelle A.;
Yatsenko, Svetlana A.;
Jeffries, Elizabeth P.;
Surti, Urvashi;
Ketterer, Deborah M.;
Afzal, Sibtain;
Ramzan, Khushnooda;
Haque, Muhammad Faiyaz-UI;
Huaiyang Jiang;
Trakselis, Michael A.;
Rajkovic, Aleksandar

Publication type:

Article

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

Published in:

2015

By:

Tianjiao Chu;
Yeniterzi, Suveyda;
Yatsenko, Svetlana A.;
Dunkel, Mary;
Rajkovic, Aleksandar;
Hogge, W. Allen;
Peters, David G.;
Scalici, Elodie;
Hamamah, Samir

Publication type:

journal article

Discrepancies Between Sex Prediction and Fetal Sex After Prenatal Noninvasive Cell-Free DNA Screening.

Published in:

Journal of the Endocrine Society, 2025, v. 9, n. 2, p. 1, doi. 10.1210/jendso/bvaf007

By:

Witchel, Selma F;
Rajkovic, Aleksandar;
Yatsenko, Svetlana A

Publication type:

Article

Re: X-Linked TEX11 Mutations, Meiotic Arrest and Azoospermia in Infertile Men.

Published in:

2015

By:

Yatsenko, Alexander N.;
Georgiadis, Andrew;
Röpke, Albercht;
Berman, Andrea J.;
Jaffe, Thomas;
Olszewska, Marta;
Westernströer, Birgit;
Sanfilippo, Joseph;
Kurpisz, Maciej;
Rajkovic, Aleksandar;
Yatsenko, Svetlana A.;
Kliesch, Sabine;
Schlatt, Stefan;
Tüttelmann, Frank

Publication type:

Editorial

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

Published in:

Journal of Neurodevelopmental Disorders, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s11689-015-9122-9

By:

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

Publication type:

Article

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

Published in:

2016

By:

Chu, Tianjiao;
Yeniterzi, Suveyda;
Yatsenko, Svetlana A.;
Dunkel, Mary;
Shaw, Patricia A.;
Bunce, Kimberly D.;
Peters, David G.

Publication type:

Correction Notice

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

Published in:

PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0153182

By:

Chu, Tianjiao;
Yeniterzi, Suveyda;
Yatsenko, Svetlana A.;
Dunkel, Mary;
Shaw, Patricia A.;
Bunce, Kimberly D.;
Peters, David G.

Publication type:

Article

Familial Infertility (Azoospermia and Cryptozoospermia) in Two Brothers—Carriers of t(1;7) Complex Chromosomal Rearrangement (CCR): Molecular Cytogenetic Analysis.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 12, p. 4559, doi. 10.3390/ijms21124559

By:

Olszewska, Marta;
Stokowy, Tomasz;
Pollock, Nijole;
Huleyuk, Nataliya;
Georgiadis, Andrew;
Yatsenko, Svetlana;
Zastavna, Danuta;
Yatsenko, Alexander N.;
Kurpisz, Maciej

Publication type:

Article

B-Cell Acute Lymphoblastic Leukemia with iAMP21 in a Patient with Constitutional Ring Chromosome 21.

Published in:

Cytogenetic & Genome Research, 2022, v. 162, n. 5, p. 231, doi. 10.1159/000527025

By:

Baloda, Vandana;
Aggarwal, Nidhi;
Rosado, Flavia G.;
Mackey, Sarah;
Felker, James;
Yatsenko, Svetlana A.

Publication type:

Article

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

Published in:

Cytogenetic & Genome Research, 2017, v. 150, n. 3/4, p. 242, doi. 10.1159/000456572

By:

Ou, Zhishuo;
Sherer, Maureen;
Casey, Jane;
Bakos, Heather a.;
Vitullo, Kathleen;
Hu, Jie;
Friehling, Erika;
Gollin, Susanne M.;
Surti, Urvashi;
Yatsenko, Svetlana a.

Publication type:

Article

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.

Published in:

Cytogenetic & Genome Research, 2017, v. 150, n. 3/4, p. 253, doi. 10.1159/000458167

By:

Karunamurthy, arivarasan;
Hoffner, Lori;
Hu, Jie;
Shaw, Peter;
Ranganathan, Sarangarajan;
Yatsenko, Svetlana a.;
Surti, Urvashi

Publication type:

Article

Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 21, p. 2560, doi. 10.1093/hmg/ddm197

By:

Babcock, Melanie;
Yatsenko, Svetlana;
Hopkins, Janet;
Brenton, Matthew;
Cao, Qing;
de Jong, Pieter;
Stankiewicz, Pawel;
Lupski, James R.;
Sikela, James M;
Morrow, Bernice E.

Publication type:

Article

A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.

Published in:

Journal of the American Heart Association, 2023, v. 12, n. 18, p. 1, doi. 10.1161/JAHA.123.029340

By:

Landis, Benjamin J.;
Helvaty, Lindsey R.;
Geddes, Gabrielle C.;
Lin, Jiuann-Huey Ivy;
Yatsenko, Svetlana A.;
Lo, Cecilia W.;
Border, William L.;
Wechsler, Stephanie Burns;
Murali, Chaya N.;
Azamian, Mahshid S.;
Lalani, Seema R.;
Hinton, Robert B.;
Garg, Vidu;
McBride, Kim L.;
Hodge, Jennelle C.;
Ware, Stephanie M.

Publication type:

Article

Cytogenetic signatures of recurrent pregnancy losses.

Published in:

Prenatal Diagnosis, 2021, v. 41, n. 1, p. 70, doi. 10.1002/pd.5838

By:

Yatsenko, Svetlana A.;
Quesada‐Candela, Cristina;
Saller, Devereux N.;
Beck, Stacy;
Jaffe, Ronald;
Kostadinov, Stefan;
Yanowitz, Judith;
Rajkovic, Aleksandar

Publication type:

Article

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.

Published in:

Prenatal Diagnosis, 2012, v. 32, n. 12, p. 1166, doi. 10.1002/pd.3977

By:

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

Publication type:

Article

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

Published in:

Prenatal Diagnosis, 2007, v. 27, n. 12, p. 1112, doi. 10.1002/pd.1841

By:

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

Publication type:

Article

Case Report: An association of left ventricular outflow tract obstruction with 5p deletions.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1451746

By:

Mascho, Kira;
Yatsenko, Svetlana A.;
Lo, Cecilia W.;
Xinxiu Xu;
Johnson, Jennifer;
Helvaty, Lindsey R.;
Wechsler, Stephanie Burns;
Murali, Chaya N.;
Lalani, Seema R.;
Garg, Vidu;
Hodge, Jennelle C.;
McBride, Kim L.;
Ware, Stephanie M.;
Jiuann-Huey Ivy Lin

Publication type:

Article

Correction: Mu heavy chain disease with MYD88 L265P mutation: An unusual manifestation of lymphoplasmacytic lymphoma.

Published in:

2022

By:

Baloda, Vandana;
Wheeler, Sarah E.;
Murray, David L.;
Kohlhagen, Mindy C.;
Vos, Jeffrey A.;
Yatsenko, Svetlana A.;
Agha, Mounzer E.;
Djokic, Miroslav;
Swerdlow, Steven H.;
Bailey, Nathanael G.

Publication type:

Correction Notice

Mu heavy chain disease with MYD88 L265P mutation: an unusual manifestation of lymphoplasmacytic lymphoma.

Published in:

Diagnostic Pathology, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13000-022-01244-1

By:

Baloda, Vandana;
Wheeler, Sarah E.;
Murray, David L.;
Kohlhagen, Mindy C.;
VosUPMC, Jeffrey A.;
Yatsenko, Svetlana A.;
Agha, Mounzer E.;
Djokic, Miroslav;
Swerdlow, Steven H.;
Bailey, Nathanael G.

Publication type:

Article

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

Published in:

Pediatric Blood & Cancer, 2012, v. 58, n. 5, p. 801, doi. 10.1002/pbc.23219

By:

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

Publication type:

Article

Single-cell morphological and transcriptome analysis unveil inhibitors of polyploid giant breast cancer cells in vitro.

Published in:

Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05674-5

By:

Zhou, Mengli;
Ma, Yushu;
Chiang, Chun-Cheng;
Rock, Edwin C.;
Butler, Samuel Charles;
Anne, Rajiv;
Yatsenko, Svetlana;
Gong, Yinan;
Chen, Yu-Chih

Publication type:

Article

Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants.

Published in:

Human Genetics, 2024, v. 143, n. 2, p. 185, doi. 10.1007/s00439-023-02637-y

By:

Aminbeidokhti, Mona;
Qu, Jia-Hua;
Belur, Shweta;
Cakmak, Hakan;
Jaswa, Eleni;
Lathi, Ruth B.;
Sirota, Marina;
Snyder, Michael P.;
Yatsenko, Svetlana A.;
Rajkovic, Aleksandar

Publication type:

Article

Importance of complete phenotyping in prenatal whole exome sequencing.

Published in:

Human Genetics, 2018, v. 137, n. 2, p. 175, doi. 10.1007/s00439-017-1860-1

By:

Aarabi, Mahmoud;
Sniezek, Olivia;
Jiang, Huaiyang;
Saller, Devereux N.;
Bellissimo, Daniel;
Yatsenko, Svetlana A.;
Rajkovic, Aleksandar

Publication type:

Article

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Published in:

Human Genetics, 2016, v. 135, n. 5, p. 569, doi. 10.1007/s00439-016-1655-9

By:

Szafranski, Przemyslaw;
Gambin, Tomasz;
Dharmadhikari, Avinash;
Akdemir, Kadir;
Jhangiani, Shalini;
Schuette, Jennifer;
Godiwala, Nihal;
Yatsenko, Svetlana;
Sebastian, Jessica;
Madan-Khetarpal, Suneeta;
Surti, Urvashi;
Abellar, Rosanna;
Bateman, David;
Wilson, Ashley;
Markham, Melinda;
Slamon, Jill;
Santos-Simarro, Fernando;
Palomares, María;
Nevado, Julián;
Lapunzina, Pablo

Publication type:

Article

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

Published in:

Human Genetics, 2012, v. 131, n. 12, p. 1895, doi. 10.1007/s00439-012-1216-9

By:

Yatsenko, Svetlana;
Hixson, Patricia;
Roney, Erin;
Scott, Daryl;
Schaaf, Christian;
Ng, Yu-tze;
Palmer, Robbin;
Fisher, Richard;
Patel, Ankita;
Cheung, Sau;
Lupski, James

Publication type:

Article

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

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 227, doi. 10.1007/s00439-006-0200-7

By:

Ou, Zhishuo;
Jarmuż, Małgorzata;
Sparagana, Steven;
Michaud, Jacques;
Décarie, Jean-Claude;
Yatsenko, Svetlana;
Nowakowska, Beata;
Furman, Patti;
Shaw, Chad;
Shaffer, Lisa;
Lupski, James;
Chinault, A.;
Cheung, Sau;
Stankiewicz, Paweł

Publication type:

Article

B‐cell acute lymphoblastic leukemia with iAMP21 in a patient with Down syndrome due to a constitutional isodicentric chromosome 21.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2325, doi. 10.1002/ajmg.a.62864

By:

Verdoni, Angela M.;
Zilla, Megan L.;
Bullock, Grant;
Guinipero, Terri L.;
Meade, Julia;
Yatsenko, Svetlana A.

Publication type:

Article

Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 813, doi. 10.1002/ajmg.a.61482

By:

Hu, Jie;
Ou, Zhishuo;
Surti, Urvashi;
Kochmar, Sally;
Hoffner, Lori;
Madan‐Khetarpal, Suneeta;
Arnold, Georgianne L.;
Walsh, Leslie;
Acquaro, Roxanne;
Sebastian, Jessica;
Yatsenko, Svetlana A.

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2720, doi. 10.1002/ajmg.a.40646

By:

Carson, Jason C.;
Hoffner, Lori;
Conlin, Laura;
Parks, W. Tony;
Fisher, Rosemary A.;
Spinner, Nancy;
Yatsenko, Svetlana A.;
Bonadio, Jeffrey;
Surti, Urvashi

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3153, doi. 10.1002/ajmg.a.38497

By:

Putra, Manesha;
Surti, Urvashi;
Hu, Jie;
Steele, Deana;
Clemens, Michele;
Saller, Devereux N.;
Yatsenko, Svetlana A.;
Rajkovic, Aleksandar

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 221, doi. 10.1002/ajmg.a.37981

By:

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

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2365, doi. 10.1002/ajmg.a.37793

By:

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

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1047, doi. 10.1002/ajmg.a.36839

By:

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

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2623, doi. 10.1002/ajmg.a.36627

By:

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

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 364, doi. 10.1002/ajmg.a.36238

By:

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

Publication type:

Article

Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency.

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 9, p. 2211, doi. 10.1007/s10815-023-02886-w

By:

Vanderschelden, Rachel K;
Rodriguez-Escriba, Marta;
Chan, Serena H.;
Berman, Andrea J.;
Rajkovic, Aleksandar;
Yatsenko, Svetlana A.

Publication type:

Article

Chromosomal instability in women with primary ovarian insufficiency.

Published in:

2018

By:

Katari, Sunita;
Aarabi, Mahmoud;
Kintigh, Angela;
Mann, Susan;
Yatsenko, Svetlana A;
Sanfilippo, Joseph S;
Zeleznik, Anthony J;
Rajkovic, Aleksandar

Publication type:

journal article

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

Published in:

2015

By:

Marinescu, Ponnila S.;
Saller, Devereux N.;
Parks, W. Tony;
Yatsenko, Svetlana A.;
Rajkovic, Aleksandar

Publication type:

Case Study

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

Published in:

International Journal of Dermatology, 2019, v. 58, n. 11, p. 1246, doi. 10.1111/ijd.14462

By:

Lopez, Liurka V.;
Yatsenko, Svetlana A.;
Burgess, Melissa;
Schoedel, Karen;
Rao, Uma N. M.

Publication type:

Article

Blue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials.

Published in:

PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0125700

By:

Luo, Xunda;
Cideciyan, Artur V.;
Iannaccone, Alessandro;
Roman, Alejandro J.;
Ditta, Lauren C.;
Jennings, Barbara J.;
Yatsenko, Svetlana A.;
Sheplock, Rebecca;
Sumaroka, Alexander;
Swider, Malgorzata;
Schwartz, Sharon B.;
Wissinger, Bernd;
Kohl, Susanne;
Jacobson, Samuel G.

Publication type:

Article

Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development.

Published in:

PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0015392

By:

Tannour-Louet, Mounia;
Shuo Han;
Corbett, Sean T.;
Louet, Jean-Francois;
Yatsenko, Svetlana;
Meyers, Lindsay;
Shaw, Chad A.;
Kang, Sung-Hae L.;
Sau Wai Cheung;
Lamb, Dolores J.

Publication type:

Article

Prenatal and fetal diagnosis of trisomy 18 after low‐risk cell‐free fetal DNA screening: A report of four cases.

Published in:

Prenatal Diagnosis, 2023, v. 43, n. 1, p. 36, doi. 10.1002/pd.6273

By:

Sheehan, Elizabeth;
Bacon, Victoria;
Lascurain, Seth;
Stone, Julia;
Yatsenko, Svetlana;
Aarabi, Mahmoud;
Skvarca, Lauren B.;
Clemens, Michele;
Saller, Devereux

Publication type:

Article

Late diagnosis of the X-linked MCT8 deficiency (Allan–Herndon–Dudley syndrome) in a teenage girl with primary ovarian insufficiency.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 4, p. 371, doi. 10.1515/jpem-2023-0070

By:

Sriram, Swetha;
Shahid, Nabiha;
Mysliwiec D, Diana;
Lichter-Konecki, Uta;
Yatsenko, Svetlana A.;
Garibaldi, Luigi R.

Publication type:

Article