S. Yatsenko

S. Yatsenko, S. Witchel, M. Reyes-Múgica, 2019, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

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

S. Yatsenko, S. Witchel, 2017, Seminars in perinatology.

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

Golder N Wilson, P. Stankiewicz, J. Lupski, 2005, American journal of medical genetics. Part A.

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

U. Surti, S. Ranganathan, S. Yatsenko, 2017, Cytogenetic and Genome Research.

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

A. Rajkovic, A. Gregg, M. Aarabi, 2022, Clinical genetics.

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

U. Surti, A. Rajkovic, M. Asato, 2015, American journal of medical genetics. Part A.

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

A. Rajkovic, G. Gurda, R. Bhargava, 2017, International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists.

Chromosomal instability in women with primary ovarian insufficiency

A. Rajkovic, A. Zeleznik, M. Aarabi, 2018, Human reproduction.

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

J. Lupski, S. Plon, Hannah C. Cheung, 2012, Pediatric blood & cancer.

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

Julia Meade, S. Yatsenko, G. Bullock, 2021, American journal of medical genetics. Part A.

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

P. Stankiewicz, J. Lupski, S. Cheung, 2004, Clinical genetics.

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

S. Swerdlow, D. Murray, S. Yatsenko, 2022, Diagnostic Pathology.

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

U. Surti, Huaiyang Jiang, S. Basit, 2015, Journal of Clinical Investigation.

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

U. Surti, Huaiyang Jiang, A. Rajkovic, 2014, American journal of human genetics.

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

A. Rajkovic, S. Yatsenko, F. Schneck, 2014, American journal of medical genetics. Part A.

2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.

A. Popejoy, A. Philp, F. Quintero-Rivera, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Clinicopathologic Characterization of Hypocellular Acute Myeloid Leukemia (AML) Showed Fewer Genetic Abnormalities Involving Cell Proliferation and NPM1 When Compared With Nonhypocellular AML.

S. Yatsenko, E. Carlsen, Yen‐Chun Liu, 2020, American journal of clinical pathology.

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

T. Chu, K. Bunce, D. Peters, 2016, PloS one.

High‐resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X‐linked blue cone monochromacy

U. Surti, A. Rajkovic, A. Iannaccone, 2016, Clinical genetics.

Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model

A. Rajkovic, D. Turkkahraman, L. D. Kotan, 2018, Clinical genetics.

Amplification of mutated NRAS leading to congenital melanoma in neurocutaneous melanocytosis

A. Panigrahy, M. Nikiforova, R. Hamilton, 2015, Melanoma research.

Maternal GRB10 microdeletion is a novel cause of cystic placenta: Spectrum of genomic changes in the etiology of enlarged cystic placenta.

U. Surti, D. Bellissimo, W. Parks, 2017, Placenta.

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

U. Surti, Z. Ou, S. Gollin, 2017, Cytogenetic and Genome Research.

A Novel Integrated Approach for Cytogenomic Evaluation of Plasma Cell Neoplasms.

S. Swerdlow, A. Rajkovic, R. Farah, 2022, The Journal of molecular diagnostics : JMD.

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

U. Surti, A. Rajkovic, S. Yatsenko, 2014, American journal of medical genetics. Part A.

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

A. Rajkovic, S. Yatsenko, A. Yatsenko, 2017, American journal of medical genetics. Part A.

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

P. Stankiewicz, J. Lupski, R. Lewis, 2005, American journal of medical genetics. Part A.

Trisomy 17 p 10p 12 Due to Mosaic Supernumerary Marker Chromosome : Delineation of Molecular Breakpoints and Clinical Phenotype , and Comparison to Other Proximal 17 p Segmental Duplications

P. Stankiewicz, J. Lupski, R. Lewis, 2005 .

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

L. Shaffer, Z. Ou, P. Stankiewicz, 2006, Human Genetics.

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

U. Surti, A. Rajkovic, Priya Mittal, 2015, The Journal of clinical investigation.

Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots

Z. Ou, M. Aarabi, S. Yatsenko, 2022, Psychiatric genetics.

A Case of Agonadism, Skeletal Malformations, Bicuspid Aortic Valve, and Delayed Development with a 16p13.3 Duplication Including GNG13 and SOX8 Upstream Enhancers: Are Either, Both or Neither Involved in the Phenotype?

S. Cheung, R. Erickson, S. Yatsenko, 2010, Molecular Syndromology.

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

Ankita Patel, J. Lupski, S. Cheung, 2012, Human Genetics.

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

S. Swerdlow, D. Murray, S. Yatsenko, 2022, Diagnostic Pathology.

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

A. V. Cideciyan, A. J. Roman, A. Cideciyan, 2015, PloS one.

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene

R. Lovell-Badge, A. Rajkovic, K. McElreavey, 2020, Proceedings of the National Academy of Sciences.

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

Andrew P. Georgiadis, S. Yatsenko, A. Yatsenko, 2014, Molecular Cytogenetics.

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

M. Burgess, U. Rao, S. Yatsenko, 2019, International journal of dermatology.

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

A. Rajkovic, A. Röpke, Andrew P. Georgiadis, 2015, The New England journal of medicine.

Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men.

Ankita Patel, S. Cheung, M. Matzuk, 2010, The Journal of urology.

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

U. Surti, N. Spinner, W. Parks, 2018, American journal of medical genetics. Part A.

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

Andrew P. Georgiadis, S. Yatsenko, A. Yatsenko, 2020, International journal of molecular sciences.

Chromosomal causes of infertility

A. Rajkovic, S. Yatsenko, 2014 .

Genetics of human female infertility†

A. Rajkovic, S. Yatsenko, 2019, Biology of Reproduction.

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

R. Pfundt, B. D. de Vries, P. Stankiewicz, 2007, Human Genetics.

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

P. Stankiewicz, L. Shao, Ankita Patel, 2008, American journal of medical genetics. Part A.

Array comparative genomic hybridization detects chromosomal abnormalities in hematological cancers that are not detected by conventional cytogenetics.

L. Shao, Ankita Patel, C. Shaw, 2010, The Journal of molecular diagnostics : JMD.

Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases

Z. Ou, P. Stankiewicz, M. L. Cooper, 2007, PloS one.

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Kristin M. Scheible, U. Surti, P. Stankiewicz, 2016, Human Genetics.

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.

P. Stankiewicz, J. Lupski, B. Morrow, 2007, Genome research.

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

P. Stankiewicz, J. Mulvihill, Jiyun Lee, 2008, American journal of medical genetics. Part A.

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

P. Stankiewicz, J. Lupski, J. Sikela, 2007, Human molecular genetics.

Reproductive aging and MCM8/9

A. Rajkovic, S. Yatsenko, 2015, Oncotarget.

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

P. Stankiewicz, J. Lupski, T. Liehr, 2006, American journal of medical genetics. Part A.

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

P. Stankiewicz, J. Lupski, S. Bartel-Friedrich, 2005, American journal of medical genetics. Part A.

Expansion of phenotype and genotypic data in CRB2-related syndrome

A. Fulton, D. Schneidman-Duhovny, A. Rajkovic, 2016, European Journal of Human Genetics.

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

A. Vanderver, J. Bouchard, C. Toro, 2013, Human mutation.

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, Pawel Stankiewicz, Weimin Bi, 2007, American journal of human genetics.

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

Chad A Shaw, Ankita Patel, Z. Ou, 2005, Genetics in Medicine.

Copy number alterations involving 59 ACMG‐recommended secondary findings genes

U. Surti, D. Bellissimo, A. Rajkovic, 2020, Clinical genetics.

Integration of microarray analysis into the clinical diagnosis of hematological malignancies: How much can we improve cytogenetic testing?

U. Surti, S. Swerdlow, A. Rajkovic, 2015, Oncotarget.

Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea

U. Surti, A. Rajkovic, J. Locker, 2021, Molecular genetics & genomic medicine.

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

Ankita Patel, J. Lupski, S. Cheung, 2012, Human Genetics.

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

A. C. Chinault, J. Lupski, S. Cheung, 2009, Human molecular genetics.

Cytogenetic signatures of recurrent pregnancy losses

A. Rajkovic, J. Yanowitz, D. Saller, 2020, medRxiv.

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

U. Surti, A. Sood, A. Rajkovic, 2017, Fertility and Sterility.

Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency

A. Rajkovic, D. Toniolo, C. Barbieri, 2021, Human reproduction.

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.

Z. Ou, A. C. Chinault, Ankita Patel, 2009, The Journal of molecular diagnostics : JMD.

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

A. Rajkovic, S. Yatsenko, S. Witchel, 2017, Journal of Medical Genetics.

Pathogenic variants in ZSWIM7 cause Primary Ovarian Insufficiency.

A. Rajkovic, Yingying Qin, A. Topaloğlu, 2022, The Journal of clinical endocrinology and metabolism.

Novel Inactivating Mutation of the FSH Receptor in Two Siblings of Indian Origin With Premature Ovarian Failure.

A. Rajkovic, R. Muzumdar, M. Wood-Trageser, 2015, The Journal of clinical endocrinology and metabolism.

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

P. Stankiewicz, S. Yatsenko, R. Posmyk, 2005, Genetic counseling.

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

U. Surti, W. A. Hogge, S. Yatsenko, 2012, Prenatal diagnosis.

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

U. Surti, A. Rajkovic, D. Saller, 2017, American journal of medical genetics. Part A.

Acute myeloid leukemia with isolated del(5q) is associated with IDH1/IDH2 mutations and better prognosis when compared to acute myeloid leukemia with complex karyotype including del(5q)

S. Yatsenko, Yen‐Chun Liu, N. Aggarwal, 2019, Modern Pathology.

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)]

F. Scaglia, T. Sahoo, R. Naeem, 2004, American journal of medical genetics. Part A.

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

U. Surti, D. Bellissimo, A. Rajkovic, 2019, European journal of medical genetics.

Mixed phenotype acute leukemia in a child associated with a NUP98‐NSD1 fusion and NRAS p.Gly61Arg mutation

S. Yatsenko, M. Djokic, Sunil S. Raikar, 2021, Cancer reports.

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

P. Validire, A. Rajkovic, E. Rajpert-De Meyts, 2018, Human molecular genetics.

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

Huaiyang Jiang, A. Rajkovic, M. Wood-Trageser, 2018, Molecular genetics & genomic medicine.

Importance of complete phenotyping in prenatal whole exome sequencing

Huaiyang Jiang, D. Bellissimo, A. Rajkovic, 2018, Human Genetics.

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

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2012, Genetics in Medicine.

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

Huaiyang Jiang, A. Rajkovic, T. Chu, 2019, Genetics in Medicine.

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.

R. Gibbs, D. Muzny, M. Bainbridge, 2018, Blood.

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

P. Stankiewicz, J. Lupski, W. Bi, 2005 .

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

Z. Ou, P. Stankiewicz, M. L. Cooper, 2008, Molecular Cytogenetics.

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

Laurie D. Smith, P. Stankiewicz, W. Reardon, 2007, American journal of medical genetics. Part A.

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

Urvashi Surti, Jie Hu, U. Surti, 2015, Journal of Neurodevelopmental Disorders.

Histopathologic, immunophenotypic, and mutational landscape of follicular lymphomas with plasmacytic differentiation

S. Swerdlow, S. Yatsenko, Yen‐Chun Liu, 2021, Modern Pathology.

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

S. Swerdlow, D. Murray, S. Yatsenko, 2022, Diagnostic Pathology.

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

A. Rajkovic, W. Parks, D. Saller, 2014, Clinical case reports.

Altered DNA methylation in PAH deficient phenylketonuria.

James Lyons-Weiler, J. Vockley, S. Dobrowolski, 2015, Molecular genetics and metabolism.

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

Ankita Patel, J. Lupski, S. Cheung, 2007, Prenatal diagnosis.

TO JMG Deletion 9 q 34 . 3 syndrome : genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

P. Stankiewicz, J. Lupski, S. Cheung, 2005 .

Delineation of the proximal 3q microdeletion syndrome

K. Gunderson, S. Cheung, D. Peiffer, 2008, American Journal of Medical Genetics. Part A.

Clinical Report Delineation of the Proximal 3q Microdeletion Syndrome

K. Gunderson, S. Cheung, D. Peiffer, 2008 .

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

P. Stankiewicz, A. Mikos, Heather M. Alger, 2012, Journal of the Association for Research in Otolaryngology.

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

U. Surti, Z. Ou, S. Yatsenko, 2020, American journal of medical genetics. Part A.

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

U. Surti, S. Yatsenko, Jie Hu, 2015, Journal of Neurodevelopmental Disorders.

Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency

A. Rajkovic, S. Yatsenko, A. Berman, 2023, Journal of Assisted Reproduction and Genetics.

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

P. Stankiewicz, M. Smyk, G. Scherer, 2006, Clinical genetics.

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

S. Yatsenko, F. Rosado, James Felker, 2022, Cytogenetic and Genome Research.

Preimplantation Genetic Testing

A. Rajkovic, S. Yatsenko, 2022, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.

Enhancing Molecular and Cytogenetic Fellow Education With an Integrative Hematopathology/Molecular Genetic Pathology Joint Conference.

S. Swerdlow, S. Yatsenko, A. Verdoni, 2022, American journal of clinical pathology.

Preimplantation Genetic Testing

A. Rajkovic, S. Yatsenko, 2022, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.

Identification of critical regions for clinical features of distal 10q deletion syndrome

Z. Ou, S. Cheung, D. Peiffer, 2009, Clinical genetics.

Maternal GRB10 microdeletion is a novel cause of cystic placenta: Spectrum of genomic changes in the etiology of enlarged cystic placenta.

U. Surti, D. Bellissimo, S. Yatsenko, 2017, Placenta.

High‐resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X‐linked blue cone monochromacy

U. Surti, A. Rajkovic, M. Wood-Trageser, 2016, Clinical genetics.

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

U. Surti, A. Rajkovic, Priya Mittal, 2015, The Journal of clinical investigation.

Supplemental Material for : Med 12 Gain-of-Function Mutation Causes Leiomyomas and Genomic Instability

U. Surti, A. Rajkovic, Priya Mittal, 2015 .

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

U. Surti, Huaiyang Jiang, S. Basit, 2015, The Journal of clinical investigation.

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

A. C. Chinault, J. Lupski, S. Cheung, 2009, Human molecular genetics.

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

S. Yatsenko, E. Jaswa, M. Aminbeidokhti, 2024, Human genetics.