Aleksandar Rajkovic, PhD, MD
Professor
Pathology
School of Medicine

He serves as the UCSF Chief Genomics Officer and is the Medical Director and Chief of the Center for Genetic and Genomic Medicine (CGGM) that organizes, coordinates and oversees Clinical Genetics and Genomics Services across the entire UCSF Health System. He also serves as the Director of the Genomic Medicine Initiative.

Rajkovic lab investigates the genetic underpinnings of the formation and differentiation of gametes and reproductive tract, their role of these genes in human disease, embryo lethality and origin of heritable human disorders. The lab studies transcriptional regulation of ovarian follicle activation and oocyte survival and how these processes are essential to produce healthy egg. Early stages of ovarian follicle formation, beginning with the breakdown of germ cell cysts, formation of primordial follicles and transition to primary and secondary follicles, are critical in determining the reproductive life span and fertility. Transcription of numerous germ cell specific genes, necessary and essential for follicular development, is initiated during these early stages of follicle formation. With mouse models, his laboratory discovered numerous transcriptional regulators such as Sohlh1, Sohlh2, Lhx8, and Nobox that regulate gamete development and reproductive tract development. These transcription factors are necessary to drive oocyte growth, and synthesis of maternal effect genes that are essential for early embryogenesis and are likely involved in setting of epigenetic marks. Mutations in these oocyte-specific transcriptional regulators associate with human condition of premature ovarian insufficiency and infertility, emphasizing the importance of these pathways to women’s health. Recent epidemiologic studies have suggested that reproductive tract development abnormalities and associated pathologies such as infertility, ovarian insufficiency and premature menopause are associated with higher mortality and morbidity. Whole genome human studies in his laboratory discovered that DNA damage repair genes such as MCM8 and MCM9 are mutated in women with infertility and the lab is exploring the link between DNA damage repair genes with infertility phenotypes and accelerated overall aging, as well as the effect of these genes on the overall health of offspring and genesis of structural birth defects. These and other studies indicate that many of the reproductive disorders are developmental in origin. The lab is also investigating the genetic underpinnings of uterine leiomyomas, better known as fibroid tumors. Fibroid tumors are clinically apparent in nearly 25% of women by age 45, and they cause major morbidity in American women. We have discovered numerous genomic rearrangements that associate with this tumor and we also discovered that 70% of American women harbor mutations within one gene, MED12, regardless of the karyotype abnormality of the tumors. We are currently investigating the mechanisms of MED12 action in leiomyomas and therapies directed towards eliminating such tumors in symptomatic women.

The lab has also been at the forefront of applying cutting edge OMICS technologies to diagnosing infertility, gonadal dysgenesis, and prenatal disorders. The lab made significant contributions to non-invasive diagnosis of submicroscopic deletions, design and utility of dense X chromosome arrays, and utility of genomewide detection of copy number variants in prenatal diagnosis among others. The lab is currently investigating non-invasive OMICS both prior and post-implantation to predict and prevent human disorders.

• Preconception Genetic Carrier Screening for Miscarriage Risk Assessment: A Bioinformatic Approach to Identifying Candidate Lethal Genes and Variants.
  medRxiv : the preprint server for health sciences 2023 Aminbeidokhti M, Qu JH, Belur S, Cakmak H, Jaswa E, Lathi RB, Sirota M, Snyder MP, Yatsenko SA, Rajkovic A
• Sohlh1 loss of function male and female infertility model impacts overall health beyond gonadal dysfunction in mice†.
  Biology of reproduction 2023 Rodríguez-Escribà M, Rodríguez-Alonso B, Belur S, Rajkovic A
• Leveraging electronic health records to identify risk factors for recurrent pregnancy loss across two medical centers: a case-control study.
  Research square 2023 Roger J, Xie F, Costello J, Tang A, Liu J, Oskotsky T, Woldemariam S, Kosti I, Le B, Snyder MP, Giudice LC, Torgerson D, Shaw GM, Stevenson DK, Rajkovic A, Glymour MM, Aghaeepour N, Cakmak H, Lathi RB…
• Single-cell sequencing reveals novel cellular heterogeneity in uterine leiomyomas.
  Human reproduction (Oxford, England) 2022 Goad J, Rudolph J, Zandigohar M, Tae M, Dai Y, Wei JJ, Bulun SE, Chakravarti D, Rajkovic A
• A Novel Integrated Approach for Cytogenomic Evaluation of Plasma Cell Neoplasms.
  The Journal of molecular diagnostics : JMD 2022 Aarabi M, Yoest JM, Farah R, Rajkovic A, Swerdlow SH, Yatsenko SA
• Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database.
  Clinical genetics 2022 Schmitz MJ, Aarabi M, Bashar A, Rajkovic A, Gregg AR, Yatsenko SA
• Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency.
  The Journal of clinical endocrinology and metabolism 2022 Yatsenko SA, Gurbuz F, Topaloglu AK, Berman AJ, Martin PM, Rodrigue-Escribà M, Qin Y, Rajkovic A
• Primordial follicle activation: to be or not to be takes another twist.
  Biology of reproduction 2022 Rajkovic A
• Deletion of Gremlin-2 alters estrous cyclicity and disrupts female fertility in mice†.
  Biology of reproduction 2021 Rydze RT, Patton BK, Briley SM, Salazar Torralba H, Gipson G, James R, Rajkovic A, Thompson T, Pangas SA
• Correction to: Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
  Genetics in medicine : official journal of the American College of Medical Genetics 2021 Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS, ACMG Professional Practice and Guidelines Committee
• Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
  Genetics in medicine : official journal of the American College of Medical Genetics 2021 Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS, ACMG Professional Practice and Guidelines Committee
• Reproductive outcomes in individuals with chromosomal reciprocal translocations.
  Genetics in medicine : official journal of the American College of Medical Genetics 2021 Verdoni A, Hu J, Surti U, Babcock M, Sheehan E, Clemens M, Drewes S, Walsh L, Clark R, Katari S, Sanfilippo J, Saller DN, Rajkovic A, Yatsenko SA
• Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.
  Molecular genetics & genomic medicine 2021 Liao J, Coffman KA, Locker J, Padiath QS, Nmezi B, Filipink RA, Hu J, Sathanoori M, Madan-Khetarpal S, McGuire M, Schreiber A, Moran R, Friedman N, Hoffner L, Rajkovic A, Yatsenko SA, Surti U
• Motifs of the C-terminal domain of MCM9 direct localization to sites of mitomycin-C damage for RAD51 recruitment.
  The Journal of biological chemistry 2021 McKinzey DR, Gomathinayagam S, Griffin WC, Klinzing KN, Jeffries EP, Rajkovic A, Trakselis MA
• Female reproductive tract has low concentration of SARS-CoV2 receptors.
  PloS one 2020 Goad J, Rudolph J, Rajkovic A
• Copy number alterations involving 59 ACMG-recommended secondary findings genes.
  Clinical genetics 2020 Yatsenko SA, Aarabi M, Hu J, Surti U, Ortiz D, Madan-Khetarpal S, Saller DN, Bellissimo D, Rajkovic A
• Cytogenetic signatures of recurrent pregnancy losses.
  Prenatal diagnosis 2020 Yatsenko SA, Quesada-Candela C, Saller DN, Beck S, Jaffe R, Kostadinov S, Yanowitz J, Rajkovic A
• Female reproductive tract has low concentration of SARS-CoV2 receptors.
  bioRxiv : the preprint server for biology 2020 Goad J, Rudolph J, Rajkovic A
• Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.
  Proceedings of the National Academy of Sciences of the United States of America 2020 Eozenou C, Gonen N, Touzon MS, Jorgensen A, Yatsenko SA, Fusee L, Kamel AK, Gellen B, Guercio G, Singh P, Witchel S, Berman AJ, Mainpal R, Totonchi M, Mohseni Meybodi A, Askari M, Merel-Chali T, …
• Loss of Cx43 in Murine Sertoli Cells Leads to Altered Prepubertal Sertoli Cell Maturation and Impairment of the Mitosis-Meiosis Switch.
  Cells 2020 Hilbold E, Distl O, Hoedemaker M, Wilkening S, Behr R, Rajkovic A, Langeheine M, Rode K, Jung K, Metzger J, Brehm RHJ
• Genetics of human female infertility†.
  Biology of reproduction 2019 Yatsenko SA, Rajkovic A
• A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency.
  Genetics in medicine : official journal of the American College of Medical Genetics 2019 Yatsenko SA, Wood-Trageser M, Chu T, Jiang H, Rajkovic A
• Cell-Free DNA Screening During Pregnancy.
  JAMA 2019 Gregg AR, Rajkovic A
• Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.
  Journal of assisted reproduction and genetics 2018 Yang X, Touraine P, Desai S, Humphreys G, Jiang H, Yatsenko A, Rajkovic A
• X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
  Scientific reports 2018 Khan MJ, Pollock N, Jiang H, Castro C, Nazli R, Ahmed J, Basit S, Rajkovic A, Yatsenko AN
• Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation.
  European journal of medical genetics 2018 Aarabi M, Kessler E, Madan-Khetarpal S, Surti U, Bellissimo D, Rajkovic A, Yatsenko SA
• Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
  Human molecular genetics 2018 Portnoi MF, Dumargne MC, Rojo S, Witchel SF, Duncan AJ, Eozenou C, Bignon-Topalovic J, Yatsenko SA, Rajkovic A, Reyes-Mugica M, Almstrup K, Fusee L, Srivastava Y, Chantot-Bastaraud S, Hyon C, Louis-…
• Chromosomal instability in women with primary ovarian insufficiency.
  Human reproduction (Oxford, England) 2018 Katari S, Aarabi M, Kintigh A, Mann S, Yatsenko SA, Sanfilippo JS, Zeleznik AJ, Rajkovic A
• Synchronous Bilateral Tubal Serous Carcinomas in a Patient With Exon 13 Duplication and Loss of Function of BRCA1.
  International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists 2018 Gurda GT, Serdy KM, Yatsenko SA, Rajkovic A, Carter NJ, Ahmed R, Olawaiye AB, Bhargava R, Elishaev E
• Importance of complete phenotyping in prenatal whole exome sequencing.
  Human genetics 2018 Aarabi M, Sniezek O, Jiang H, Saller DN, Bellissimo D, Yatsenko SA, Rajkovic A
• Ovarian Follicular Theca Cell Recruitment, Differentiation, and Impact on Fertility: 2017 Update.
  Endocrine reviews 2018 Richards JS, Ren YA, Candelaria N, Adams JE, Rajkovic A
• Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency.
  Molecular genetics & genomic medicine 2018 Ren Y, Diao F, Katari S, Yatsenko S, Jiang H, Wood-Trageser MA, Rajkovic A
• Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3.
  American journal of medical genetics. Part A 2017 Putra M, Surti U, Hu J, Steele D, Clemens M, Saller DN, Yatsenko SA, Rajkovic A
• Ovary as a Biomarker of Health and Longevity: Insights from Genetics.
  Seminars in reproductive medicine 2017 Rajkovic A, Pangas S
• Transcription factors SOHLH1 and SOHLH2 coordinate oocyte differentiation without affecting meiosis I.
  The Journal of clinical investigation 2017 Shin YH, Ren Y, Suzuki H, Golnoski KJ, Ahn HW, Mico V, Rajkovic A
• Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region.
  Journal of medical genetics 2017 Dangle P, Touzon MS, Reyes-Múgica M, Witchel SF, Rajkovic A, Schneck FX, Yatsenko SA
• Genetics of Reproductive Aging from Gonadal Dysgenesis through Menopause.
  Seminars in reproductive medicine 2017 Desai S, Rajkovic A
• MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency.
  The Journal of clinical endocrinology and metabolism 2017 Desai S, Wood-Trageser M, Matic J, Chipkin J, Jiang H, Bachelot A, Dulon J, Sala C, Barbieri C, Cocca M, Toniolo D, Touraine P, Witchel S, Rajkovic A
• Med12 regulates ovarian steroidogenesis, uterine development and maternal effects in the mammalian egg.
  Biology of reproduction 2017 Wang X, Mittal P, Castro CA, Rajkovic G, Rajkovic A
• Highly heterogeneous genomic landscape of uterine leiomyomas by whole exome sequencing and genome-wide arrays.
  Fertility and sterility 2016 Yatsenko SA, Mittal P, Wood-Trageser MA, Jones MW, Surti U, Edwards RP, Sood AK, Rajkovic A
• A design thinking approach to primary ovarian insufficiency.
  Panminerva medica 2016 Martin LA, Porter AG, Pelligrini VA, Schnatz PF, Jiang X, Kleinstreuer N, Hall JE, Verbiest S, Olmstead J, Fair R, Falorni A, Persani L, Rajkovic A, Mehta K, Nelson LM, Rachel's Well Primary Ovarian …
• Subpallial Enhancer Transgenic Lines: a Data and Tool Resource to Study Transcriptional Regulation of GABAergic Cell Fate.
  Neuron 2016 Silberberg SN, Taher L, Lindtner S, Sandberg M, Nord AS, Vogt D, Mckinsey GL, Hoch R, Pattabiraman K, Zhang D, Ferran JL, Rajkovic A, Golonzhka O, Kim C, Zeng H, Puelles L, Visel A, Rubenstein JLR
• Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.
  American journal of medical genetics. Part A 2016 Tas E, Sebastian J, Madan-Khetarpal S, Sweet P, Yatsenko AN, Pollock N, Rajkovic A, Schneck FX, Yatsenko SA, Witchel SF
• TAF4b Regulates Oocyte-Specific Genes Essential for Meiosis.
  PLoS genetics 2016 Grive KJ, Gustafson EA, Seymour KA, Baddoo M, Schorl C, Golnoski K, Rajkovic A, Brodsky AS, Freiman RN
• Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.
  American journal of medical genetics. Part A 2016 Bregand-White J, Saller DN, Clemens M, Surti U, Yatsenko SA, Rajkovic A
• Expansion of phenotype and genotypic data in CRB2-related syndrome.
  European journal of human genetics : EJHG 2016 Lamont RE, Tan WH, Innes AM, Parboosingh JS, Schneidman-Duhovny D, Rajkovic A, Pappas J, Altschwager P, DeWard S, Fulton A, Gray KJ, Krall M, Mehta L, Rodan LH, Saller DN, Steele D, Stein D, Yatsenko …
• Response to Sahoo et al.
  Genetics in medicine : official journal of the American College of Medical Genetics 2016 Yatsenko SA, Peters DG, Rajkovic A
• Integration of microarray analysis into the clinical diagnosis of hematological malignancies: How much can we improve cytogenetic testing?
  Oncotarget 2015 Peterson JF, Aggarwal N, Smith CA, Gollin SM, Surti U, Rajkovic A, Swerdlow SH, Yatsenko SA
• Med12 gain-of-function mutation causes leiomyomas and genomic instability.
  The Journal of clinical investigation 2015 Mittal P, Shin YH, Yatsenko SA, Castro CA, Surti U, Rajkovic A
• Prenatal whole-exome sequencing: parental attitudes.
  Prenatal diagnosis 2015 Kalynchuk EJ, Althouse A, Parker LS, Saller DN, Rajkovic A
• Reproductive aging and MCM8/9.
  Oncotarget 2015 Yatsenko SA, Rajkovic A
• Lhx8 regulates primordial follicle activation and postnatal folliculogenesis.
  BMC biology 2015 Ren Y, Suzuki H, Jagarlamudi K, Golnoski K, McGuire M, Lopes R, Pachnis V, Rajkovic A
• X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.
  The New England journal of medicine 2015 Yatsenko AN, Georgiadis AP, Röpke A, Berman AJ, Jaffe T, Olszewska M, Westernströer B, Sanfilippo J, Kurpisz M, Rajkovic A, Yatsenko SA, Kliesch S, Schlatt S, Tüttelmann F
• Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene.
  American journal of medical genetics. Part A 2015 Beck M, Peterson JF, McConnell J, McGuire M, Asato M, Losee JE, Surti U, Madan-Khetarpal S, Rajkovic A, Yatsenko SA
• Cell-free nucleic acids as non-invasive biomarkers of gynecological disorders, fetal aneuploidy and constitutional maternal chromosomal mosaicism.
  Human reproduction update 2015 Chu T, Yeniterzi S, Yatsenko SA, Dunkel M, Rajkovic A, Hogge WA, Peters DG
• Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up.
  Genetics in medicine : official journal of the American College of Medical Genetics 2015 Yatsenko SA, Peters DG, Saller DN, Chu T, Clemens M, Rajkovic A
• MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.
  American journal of human genetics 2014 Wood-Trageser MA, Gurbuz F, Yatsenko SA, Jeffries EP, Kotan LD, Surti U, Ketterer DM, Matic J, Chipkin J, Jiang H, Trakselis MA, Topaloglu AK, Rajkovic A
• Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.
  The Journal of clinical investigation 2014 AlAsiri S, Basit S, Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, Ketterer DM, Afzal S, Ramzan K, Faiyaz-Ul Haque M, Jiang H, Trakselis MA, Rajkovic A
• Recent advances of genomic testing in perinatal medicine.
  Seminars in perinatology 2014 Peters DG, Yatsenko SA, Surti U, Rajkovic A
• Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype.
  Clinical case reports 2014 Marinescu PS, Saller DN, Parks WT, Yatsenko SA, Rajkovic A
• High quality RNA in semen and sperm: isolation, analysis and potential application in clinical testing.
  The Journal of urology 2014 Georgiadis AP, Kishore A, Zorrilla M, Jaffe TM, Sanfilippo JS, Volk E, Rajkovic A, Yatsenko AN
• Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism.
  American journal of medical genetics. Part A 2014 Mroczkowski HJ, Arnold G, Schneck FX, Rajkovic A, Yatsenko SA
• Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease.
  Case reports in genetics 2014 Thakur P, Speer P, Rajkovic A
• The transition from stem cell to progenitor spermatogonia and male fertility requires the SHP2 protein tyrosine phosphatase.
  Stem cells (Dayton, Ohio) 2014 Puri P, Phillips BT, Suzuki H, Orwig KE, Rajkovic A, Lapinski PE, King PD, Feng GS, Walker WH
• High resolution non-invasive detection of a fetal microdeletion using the GCREM algorithm.
  Prenatal diagnosis 2014 Chu T, Yeniterzi S, Rajkovic A, Hogge WA, Dunkel M, Shaw P, Bunce K, Peters DG
• Meta-analysis of loci associated with age at natural menopause in African-American women.
  Human molecular genetics 2014 Chen CT, Liu CT, Chen GK, Andrews JS, Arnold AM, Dreyfus J, Franceschini N, Garcia ME, Kerr KF, Li G, Lohman KK, Musani SK, Nalls MA, Raffel LJ, Smith J, Ambrosone CB, Bandera EV, Bernstein L, Britton…
• Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.
  American journal of medical genetics. Part A 2014 Peterson JF, Ghaloul-Gonzalez L, Madan-Khetarpal S, Hartman J, Surti U, Rajkovic A, Yatsenko SA
• Spermatogonial SOHLH1 nucleocytoplasmic shuttling associates with initiation of spermatogenesis in the rhesus monkey (Macaca mulatta).
  Molecular human reproduction 2013 Ramaswamy S, Razack BS, Roslund RM, Suzuki H, Marshall GR, Rajkovic A, Plant TM
• Genomic markers of ovarian reserve.
  Seminars in reproductive medicine 2013 Wood MA, Rajkovic A
• Mouse HORMAD1 is a meiosis i checkpoint protein that modulates DNA double- strand break repair during female meiosis.
  Biology of reproduction 2013 Shin YH, McGuire MM, Rajkovic A
• Genome-wide association study of age at menarche in African-American women.
  Human molecular genetics 2013 Demerath EW, Liu CT, Franceschini N, Chen G, Palmer JR, Smith EN, Chen CT, Ambrosone CB, Arnold AM, Bandera EV, Berenson GS, Bernstein L, Britton A, Cappola AR, Carlson CS, Chanock SJ, Chen W, Chen Z,…
• Granulocyte colony-stimulating factor with or without stem cell factor extends time to premature ovarian insufficiency in female mice treated with alkylating chemotherapy.
  Fertility and sterility 2013 Skaznik-Wikiel ME, McGuire MM, Sukhwani M, Donohue J, Chu T, Krivak TC, Rajkovic A, Orwig KE
• Genetic variation and reproductive timing: African American women from the Population Architecture using Genomics and Epidemiology (PAGE) Study.
  PloS one 2013 Spencer KL, Malinowski J, Carty CL, Franceschini N, Fernández-Rhodes L, Young A, Cheng I, Ritchie MD, Haiman CA, Wilkens L, Matise TC, Carlson CS, Brennan K, Park A, Rajkovic A, Hindorff LA, Buyske S,…
• A systematic mapping approach of 16q12.2/FTO and BMI in more than 20,000 African Americans narrows in on the underlying functional variation: results from the Population Architecture using Genomics and Epidemiology (PAGE) study.
  PLoS genetics 2013 Peters U, North KE, Sethupathy P, Buyske S, Haessler J, Jiao S, Fesinmeyer MD, Jackson RD, Kuller LH, Rajkovic A, Lim U, Cheng I, Schumacher F, Wilkens L, Li R, Monda K, Ehret G, Nguyen KD, Cooper R, …
• Generation of a germ cell-specific mouse transgenic CHERRY reporter, Sohlh1-mCherryFlag.
  Genesis (New York, N.Y. : 2000) 2012 Suzuki H, Dann CT, Rajkovic A
• Biological significance of HORMA domain containing protein 1 (HORMAD1) in epithelial ovarian carcinoma.
  Cancer letters 2012 Shahzad MM, Shin YH, Matsuo K, Lu C, Nishimura M, Shen DY, Kang Y, Hu W, Mora EM, Rodriguez-Aguayo C, Kapur A, Bottsford-Miller J, Lopez-Berestein G, Rajkovic A, Sood AK
• Prenatal diagnosis of 2q32 deletion syndrome characterized by multiple segmental deletions and complex chromosomal rearrangement involving chromosomes 2, 5 and 7.
  Fetal diagnosis and therapy 2012 Thorson HL, Surti U, Sathanoori M, Kochmar SJ, Torchia B, Rajkovic A
• Whole exome sequencing in a random sample of North American women with leiomyomas identifies MED12 mutations in majority of uterine leiomyomas.
  PloS one 2012 McGuire MM, Yatsenko A, Hoffner L, Jones M, Surti U, Rajkovic A
• Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.
  Fetal diagnosis and therapy 2011 Hendrix NW, Clemens M, Canavan TP, Surti U, Rajkovic A
• Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study.
  Human molecular genetics 2011 Chen CT, Fernández-Rhodes L, Brzyski RG, Carlson CS, Chen Z, Heiss G, North KE, Woods NF, Rajkovic A, Kooperberg C, Franceschini N
• Noninvasive prenatal diagnosis of a fetal microdeletion syndrome.
  The New England journal of medicine 2011 Peters D, Chu T, Yatsenko SA, Hendrix N, Hogge WA, Surti U, Bunce K, Dunkel M, Shaw P, Rajkovic A
• SOHLH1 and SOHLH2 coordinate spermatogonial differentiation.
  Developmental biology 2011 Suzuki H, Ahn HW, Chu T, Bowden W, Gassei K, Orwig K, Rajkovic A
• Oogenesis: transcriptional regulators and mouse models.
  Molecular and cellular endocrinology 2011 Jagarlamudi K, Rajkovic A
• Complex X chromosome rearrangement delineated by array comparative genome hybridization in a woman with premature ovarian insufficiency.
  Fertility and sterility 2011 Ochalski ME, Engle N, Wakim A, Ravnan BJ, Hoffner L, Rajkovic A, Surti U
• Premature ovarian failure in nobox-deficient mice is caused by defects in somatic cell invasion and germ cell cyst breakdown.
  Journal of assisted reproduction and genetics 2011 Lechowska A, Bilinski S, Choi Y, Shin Y, Kloc M, Rajkovic A
• Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure.
  Fertility and sterility 2011 McGuire MM, Bowden W, Engel NJ, Ahn HW, Kovanci E, Rajkovic A
• Body size phenotypes and inflammation in the Women's Health Initiative Observational Study.
  Obesity (Silver Spring, Md.) 2011 Wildman RP, Kaplan R, Manson JE, Rajkovic A, Connelly SA, Mackey RH, Tinker LF, Curb JD, Eaton CB, Wassertheil-Smoller S
• Characterization of the association between 8q24 and colon cancer: gene-environment exploration and meta-analysis.
  BMC cancer 2010 Hutter CM, Slattery ML, Duggan DJ, Muehling J, Curtin K, Hsu L, Beresford SA, Rajkovic A, Sarto GE, Marshall JR, Hammad N, Wallace R, Makar KW, Prentice RL, Caan BJ, Potter JD, Peters U
• Hormad1 mutation disrupts synaptonemal complex formation, recombination, and chromosome segregation in mammalian meiosis.
  PLoS genetics 2010 Shin YH, Choi Y, Erdin SU, Yatsenko SA, Kloc M, Yang F, Wang PJ, Meistrich ML, Rajkovic A
• Characterization of 9p24 risk locus and colorectal adenoma and cancer: gene-environment interaction and meta-analysis.
  Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010 Kocarnik JD, Hutter CM, Slattery ML, Berndt SI, Hsu L, Duggan DJ, Muehling J, Caan BJ, Beresford SA, Rajkovic A, Sarto GE, Marshall JR, Hammad N, Wallace RB, Makar KW, Prentice RL, Potter JD, Hayes RB…
• Estrogen plus progestin and breast cancer incidence and mortality in postmenopausal women.
  JAMA 2010 Chlebowski RT, Anderson GL, Gass M, Lane DS, Aragaki AK, Kuller LH, Manson JE, Stefanick ML, Ockene J, Sarto GE, Johnson KC, Wactawski-Wende J, Ravdin PM, Schenken R, Hendrix SL, Rajkovic A, Rohan TE,…
• Family history of cancer and risk of pancreatic cancer: a pooled analysis from the Pancreatic Cancer Cohort Consortium (PanScan).
  International journal of cancer 2010 Jacobs EJ, Chanock SJ, Fuchs CS, Lacroix A, McWilliams RR, Steplowski E, Stolzenberg-Solomon RZ, Arslan AA, Bueno-de-Mesquita HB, Gross M, Helzlsouer K, Petersen G, Zheng W, Agalliu I, Allen NE, …
• The oocyte-specific transcription factor, Nobox, regulates the expression of Pad6, a peptidylarginine deiminase in the oocyte.
  FEBS letters 2010 Choi M, Lee OH, Jeon S, Park M, Lee DR, Ko JJ, Yoon TK, Rajkovic A, Choi Y
• Mutations in SOHLH1 gene associate with nonobstructive azoospermia.
  Human mutation 2010 Choi Y, Jeon S, Choi M, Lee MH, Park M, Lee DR, Jun KY, Kwon Y, Lee OH, Song SH, Kim JY, Lee KA, Yoon TK, Rajkovic A, Shim SH
• The effects of postmenopausal hormone therapy on serum estrogen, progesterone, and sex hormone-binding globulin levels in healthy postmenopausal women.
  Menopause (New York, N.Y.) 2010 Edlefsen KL, Jackson RD, Prentice RL, Janssen I, Rajkovic A, O'Sullivan MJ, Anderson G
• MicroRNA transcriptome in the newborn mouse ovaries determined by massive parallel sequencing.
  Molecular human reproduction 2010 Ahn HW, Morin RD, Zhao H, Harris RA, Coarfa C, Chen ZJ, Milosavljevic A, Marra MA, Rajkovic A
• Low-fat dietary pattern and lipoprotein risk factors: the Women's Health Initiative Dietary Modification Trial.
  The American journal of clinical nutrition 2010 Howard BV, Curb JD, Eaton CB, Kooperberg C, Ockene J, Kostis JB, Pettinger M, Rajkovic A, Robinson JG, Rossouw J, Sarto G, Shikany JM, Van Horn L
• Pancreatic cancer risk and ABO blood group alleles: results from the pancreatic cancer cohort consortium.
  Cancer research 2010 Wolpin BM, Kraft P, Gross M, Helzlsouer K, Bueno-de-Mesquita HB, Steplowski E, Stolzenberg-Solomon RZ, Arslan AA, Jacobs EJ, Lacroix A, Petersen G, Zheng W, Albanes D, Allen NE, Amundadottir L, …
• A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.
  Nature genetics 2010 Petersen GM, Amundadottir L, Fuchs CS, Kraft P, Stolzenberg-Solomon RZ, Jacobs KB, Arslan AA, Bueno-de-Mesquita HB, Gallinger S, Gross M, Helzlsouer K, Holly EA, Jacobs EJ, Klein AP, LaCroix A, Li D, …
• Vasomotor symptoms, adoption of a low-fat dietary pattern, and risk of invasive breast cancer: a secondary analysis of the Women's Health Initiative randomized controlled dietary modification trial.
  Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2009 Caan BJ, Aragaki A, Thomson CA, Stefanick ML, Chlebowski R, Hubbell FA, Tinker L, Vitolins M, Rajkovic A, Bueche M, Ockene J
• Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer.
  Nature genetics 2009 Amundadottir L, Kraft P, Stolzenberg-Solomon RZ, Fuchs CS, Petersen GM, Arslan AA, Bueno-de-Mesquita HB, Gross M, Helzlsouer K, Jacobs EJ, LaCroix A, Zheng W, Albanes D, Bamlet W, Berg CD, Berrino F, …
• Detection of novel copy number variants in uterine leiomyomas using high-resolution SNP arrays.
  Molecular human reproduction 2009 Bowden W, Skorupski J, Kovanci E, Rajkovic A
• Relaxin signaling in uterine fibroids.
  Annals of the New York Academy of Sciences 2009 Li Z, Burzawa JK, Troung A, Feng S, Agoulnik IU, Tong X, Anderson ML, Kovanci E, Rajkovic A, Agoulnik AI
• Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.
  Nature genetics 2009 Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, Platte R, Morrison J, Maranian M, Pooley KA, Luben R, Eccles D, Evans DG, Fletcher O, Johnson N, dos Santos Silva I, Peto J, Stratton MR, …
• Breast cancer after use of estrogen plus progestin in postmenopausal women.
  The New England journal of medicine 2009 Chlebowski RT, Kuller LH, Prentice RL, Stefanick ML, Manson JE, Gass M, Aragaki AK, Ockene JK, Lane DS, Sarto GE, Rajkovic A, Schenken R, Hendrix SL, Ravdin PM, Rohan TE, Yasmeen S, Anderson G, WHI …
• MicroRNAs and mammalian ovarian development.
  Seminars in reproductive medicine 2008 Zhao H, Rajkovic A
• Germ cell-specific transcriptional regulator sohlh2 is essential for early mouse folliculogenesis and oocyte-specific gene expression.
  Biology of reproduction 2008 Choi Y, Yuan D, Rajkovic A
• Expression and localization of the novel and highly conserved gametocyte-specific factor 1 during oogenesis and spermatogenesis.
  Fertility and sterility 2008 Krotz SP, Ballow DJ, Choi Y, Rajkovic A
• Lim homeobox gene, lhx8, is essential for mouse oocyte differentiation and survival.
  Biology of reproduction 2008 Choi Y, Ballow DJ, Xin Y, Rajkovic A
• Transcription factor FIGLA is mutated in patients with premature ovarian failure.
  American journal of human genetics 2008 Zhao H, Chen ZJ, Qin Y, Shi Y, Wang S, Choi Y, Simpson JL, Rajkovic A
• Placenta percreta at 7th week of pregnancy in a woman with previous caesarean section.
  Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2008 Tanyi JL, Coleman NM, Johnston ND, Ayensu-Coker L, Rajkovic A
• Analysis of LHX8 mutation in premature ovarian failure.
  Fertility and sterility 2007 Qin Y, Zhao H, Kovanci E, Simpson JL, Chen ZJ, Rajkovic A
• NOBOX homeobox mutation causes premature ovarian failure.
  American journal of human genetics 2007 Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A
• Analysis of TATA-binding protein 2 (TBP2) and TBP expression suggests different roles for the two proteins in regulation of gene expression during oogenesis and early mouse development.
  Reproduction (Cambridge, England) 2007 Gazdag E, Rajkovic A, Torres-Padilla ME, Tora L
• Genetics of ovarian failure and development.
  Seminars in reproductive medicine 2007 Rajkovic A
• Microarray analyses of newborn mouse ovaries lacking Nobox.
  Biology of reproduction 2007 Choi Y, Qin Y, Berger MF, Ballow DJ, Bulyk ML, Rajkovic A
• Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure.
  Fertility and sterility 2007 Zhao H, Qin Y, Kovanci E, Simpson JL, Chen ZJ, Rajkovic A
• Mutation analysis of NANOS3 in 80 Chinese and 88 Caucasian women with premature ovarian failure.
  Fertility and sterility 2007 Qin Y, Zhao H, Kovanci E, Simpson JL, Chen ZJ, Rajkovic A
• Candidate genes for premature ovarian failure.
  Current medicinal chemistry 2007 Suzumori N, Pangas SA, Rajkovic A
• Characterization of NOBOX DNA binding specificity and its regulation of Gdf9 and Pou5f1 promoters.
  The Journal of biological chemistry 2006 Choi Y, Rajkovic A
• Oogenesis requires germ cell-specific transcriptional regulators Sohlh1 and Lhx8.
  Proceedings of the National Academy of Sciences of the United States of America 2006 Pangas SA, Choi Y, Ballow DJ, Zhao Y, Westphal H, Matzuk MM, Rajkovic A
• Sohlh2 is a germ cell-specific bHLH transcription factor.
  Gene expression patterns : GEP 2006 Ballow DJ, Xin Y, Choi Y, Pangas SA, Rajkovic A
• TEX14 is essential for intercellular bridges and fertility in male mice.
  Proceedings of the National Academy of Sciences of the United States of America 2006 Greenbaum MP, Yan W, Wu MH, Lin YN, Agno JE, Sharma M, Braun RE, Rajkovic A, Matzuk MM
• Transcriptional regulation of early oogenesis: in search of masters.
  Human reproduction update 2005 Pangas SA, Rajkovic A
• Restricted germ cell expression of a gene encoding a novel mammalian HORMA domain-containing protein.
  Gene expression patterns : GEP 2004 Pangas SA, Yan W, Matzuk MM, Rajkovic A
• NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression.
  Science (New York, N.Y.) 2004 Rajkovic A, Pangas SA, Ballow D, Suzumori N, Matzuk MM
• Identification of expressed sequence tags preferentially expressed in human placentas by in silico subtraction.
  Prenatal diagnosis 2003 Miner D, Rajkovic A
• Sequence and expression of testis-expressed gene 14 (Tex14): a gene encoding a protein kinase preferentially expressed during spermatogenesis.
  Gene expression patterns : GEP 2003 Wu MH, Rajkovic A, Burns KH, Yan W, Lin YN, Matzuk MM
• Expression of Drosophila neoplastic tumor suppressor genes discslarge, scribble, and lethal giant larvae in the mammalian ovary.
  Gene expression patterns : GEP 2003 Huang JH, Rajkovic A, Szafranski P, Ochsner S, Richards J, Goode S
• Identification of Gasz, an evolutionarily conserved gene expressed exclusively in germ cells and encoding a protein with four ankyrin repeats, a sterile-alpha motif, and a basic leucine zipper.
  Molecular endocrinology (Baltimore, Md.) 2002 Yan W, Rajkovic A, Viveiros MM, Burns KH, Eppig JJ, Matzuk MM
• Obox, a family of homeobox genes preferentially expressed in germ cells.
  Genomics 2002 Rajkovic A, Yan C, Yan W, Klysik M, Matzuk MM
• Functional analysis of oocyte-expressed genes using transgenic models.
  Molecular and cellular endocrinology 2002 Rajkovic A, Matzuk MM
• Nobox is a homeobox-encoding gene preferentially expressed in primordial and growing oocytes.
  Mechanisms of development 2002 Suzumori N, Yan C, Matzuk MM, Rajkovic A