Aleksandar Rajkovic, PhD, MD

Chief Genomics Officer and Professor of Pathology
Program Lead: 'Omics Technologies
Committee Members

Aleksandar Rajkovic is a Professor of Pathology and Obstetrics/Gynecology and Reproductive Sciences. He is a Stuart Lindsay Distinguished Professor in Experimental Pathology I. 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.


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

American journal of medical genetics. Part A

Alkhunaizi E, Albrecht JP, Aarabi M, Witchel SF, Wherrett D, Babul-Hirji R, Dupuis A, Chiniara L, Chater-Diehl E, Shago M, Shuman C, Rajkovic A, Yatsenko SA, Chitayat D

Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency.

Journal of assisted reproduction and genetics

Vanderschelden RK, Rodriguez-Escriba M, Chan SH, Berman AJ, Rajkovic A, Yatsenko SA

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

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

Rodr?guez-Escrib? M, Rodr?guez-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

Roger J, Xie F, Costello J, Tang A, Liu J, Oskotsky T, Woldemariam S, Kosti I, Le B, Snyder M, Giudice L, Torgerson D, Shaw G, Stevenson D, Rajkovic A, Aghaeepour N, Glymour M, Cakmak H, Lathi R, Sirota M

Single-cell sequencing reveals novel cellular heterogeneity in uterine leiomyomas.

Human reproduction (Oxford, England)

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

Aarabi M, Yoest JM, Farah R, Rajkovic A, Swerdlow SH, Yatsenko SA

Pathogenic variants in ZSWIM7 cause Primary Ovarian Insufficiency.

The Journal of clinical endocrinology and metabolism

Yatsenko SA, Gurbuz F, Topaloglu AK, Berman AJ, Martin PM, Rodriguez-Escribà M, Qin Y, Rajkovic A

Deletion of Gremlin-2 alters estrous cyclicity and disrupts female fertility in mice.

Biology of reproduction

Rydze RT, Patton B, 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

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

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

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

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

McKinzey DR, Gomathinayagam S, Griffin WC, Klinzing KN, Jeffries EP, Rajkovic A, Trakselis MA

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

Clinical genetics

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

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

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

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, Bignon-Topalovic J, Migale R, Costanzo M, Marino R, Ramirez P, Perez Garrido N, Berensztein E, Mekkawy MK, Schimenti JC, Bertalan R, Mazen I, McElreavey K, Belgorosky A, Lovell-Badge R, Rajkovic A, Bashamboo A

Loss of Cx43 in Murine Sertoli Cells Leads to Altered Prepubertal Sertoli Cell Maturation and Impairment of the Mitosis-Meiosis Switch.


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

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

Yatsenko SA, Wood-Trageser M, Chu T, Jiang H, Rajkovic A

Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.

Journal of assisted reproduction and genetics

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

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

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

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-Sylvestre C, Validire P, de Malleray Pichard C, Ravel C, Christin-Maitre S, Brauner R, Rossetti R, Persani L, Charreau EH, Dain L, Chiauzzi VA, Mazen I, Rouba H, Schluth-Bolard C, MacGowan S, McLean WHI, Patin E, Rajpert-De Meyts E, Jauch R, Achermann JC, Siffroi JP, McElreavey K, Bashamboo A

Chromosomal instability in women with primary ovarian insufficiency.

Human reproduction (Oxford, England)

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

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

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

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

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

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

Rajkovic A, Pangas S

Transcription factors SOHLH1 and SOHLH2 coordinate oocyte differentiation without affecting meiosis I.

The Journal of clinical investigation

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

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

Desai S, Rajkovic A

MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency.

The Journal of clinical endocrinology and metabolism

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

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

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

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

Subpallial Enhancer Transgenic Lines: a Data and Tool Resource to Study Transcriptional Regulation of GABAergic Cell Fate.


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

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

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

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

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 SA, Bernier FP, Slavotinek AM

Response to Sahoo et al.

Genetics in medicine : official journal of the American College of Medical Genetics

Yatsenko SA, Peters DG, Rajkovic A

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


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

Mittal P, Shin YH, Yatsenko SA, Castro CA, Surti U, Rajkovic A

Prenatal whole-exome sequencing: parental attitudes.

Prenatal diagnosis

Kalynchuk EJ, Althouse A, Parker LS, Saller DN, Rajkovic A

Reproductive aging and MCM8/9.


Yatsenko SA, Rajkovic A

Lhx8 regulates primordial follicle activation and postnatal folliculogenesis.

BMC biology

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

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

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

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

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

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

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

Peters DG, Yatsenko SA, Surti U, Rajkovic A

High quality RNA in semen and sperm: isolation, analysis and potential application in clinical testing.

The Journal of urology

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

Mroczkowski HJ, Arnold G, Schneck FX, Rajkovic A, Yatsenko SA

The transition from stem cell to progenitor spermatogonia and male fertility requires the SHP2 protein tyrosine phosphatase.

Stem cells (Dayton, Ohio)

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

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

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 A, Brzyski RG, Cappola A, Carlson CS, Couper D, Deming SL, Goodarzi MO, Heiss G, John EM, Lu X, Le Marchand L, Marciante K, Mcknight B, Millikan R, Nock NL, Olshan AF, Press MF, Vaiyda D, Woods NF, Taylor HA, Zhao W, Zheng W, Evans MK, Harris TB, Henderson BE, Kardia SL, Kooperberg C, Liu Y, Mosley TH, Psaty B, Wellons M, Windham BG, Zonderman AB, Cupples LA, Demerath EW, Haiman C, Murabito JM, Rajkovic A

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

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

Ramaswamy S, Razack BS, Roslund RM, Suzuki H, Marshall GR, Rajkovic A, Plant TM

Genomic markers of ovarian reserve.

Seminars in reproductive medicine

Wood MA, Rajkovic A

Genome-wide association study of age at menarche in African-American women.

Human molecular genetics

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, Deming SL, Elks CE, Evans MK, Gajdos Z, Henderson BE, Hu JJ, Ingles S, John EM, Kerr KF, Kolonel LN, Le Marchand L, Lu X, Millikan RC, Musani SK, Nock NL, North K, Nyante S, Press MF, Rodriquez-Gil JL, Ruiz-Narvaez EA, Schork NJ, Srinivasan SR, Woods NF, Zheng W, Ziegler RG, Zonderman A, Heiss G, Gwen Windham B, Wellons M, Murray SS, Nalls M, Pastinen T, Rajkovic A, Hirschhorn J, Adrienne Cupples L, Kooperberg C, Murabito JM, Haiman CA

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

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

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, Crawford DC

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

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, Lewis CE, Leppert M, Irvin MR, Gu CC, Houston D, Buzkova P, Ritchie M, Matise TC, Le Marchand L, Hindorff LA, Crawford DC, Haiman CA, Kooperberg C

Generation of a germ cell-specific mouse transgenic CHERRY reporter, Sohlh1-mCherryFlag.

Genesis (New York, N.Y. : 2000)

Suzuki H, Dann CT, Rajkovic A

Biological significance of HORMA domain containing protein 1 (HORMAD1) in epithelial ovarian carcinoma.

Cancer letters

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

Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.

Fetal diagnosis and therapy

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

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

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

Suzuki H, Ahn HW, Chu T, Bowden W, Gassei K, Orwig K, Rajkovic A

Oogenesis: transcriptional regulators and mouse models.

Molecular and cellular endocrinology

Jagarlamudi K, Rajkovic A

Complex X chromosome rearrangement delineated by array comparative genome hybridization in a woman with premature ovarian insufficiency.

Fertility and sterility

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

Lechowska A, Bilinski S, Choi Y, Shin Y, Kloc M, Rajkovic A

Body size phenotypes and inflammation in the Women's Health Initiative Observational Study.

Obesity (Silver Spring, Md.)

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

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

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

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, Peters U

Estrogen plus progestin and breast cancer incidence and mortality in postmenopausal women.


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, Yasmeen S, Prentice RL

Family history of cancer and risk of pancreatic cancer: a pooled analysis from the Pancreatic Cancer Cohort Consortium (PanScan).

International journal of cancer

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, Amundadottir L, Boutron-Ruault MC, Buring JE, Canzian F, Clipp S, Dorronsoro M, Gaziano JM, Giovannucci EL, Hankinson SE, Hartge P, Hoover RN, Hunter DJ, Jacobs KB, Jenab M, Kraft P, Kooperberg C, Lynch SM, Sund M, Mendelsohn JB, Mouw T, Newton CC, Overvad K, Palli D, Peeters PH, Rajkovic A, Shu XO, Thomas G, Tobias GS, Trichopoulos D, Virtamo J, Wactawski-Wende J, Wolpin BM, Yu K, Zeleniuch-Jacquotte A

The oocyte-specific transcription factor, Nobox, regulates the expression of Pad6, a peptidylarginine deiminase in the oocyte.

FEBS letters

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

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.)

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

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

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

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, Anderson G, Boutron-Ruault MC, Buring JE, Canzian F, Chanock SJ, Clipp S, Gaziano JM, Giovannucci EL, Hallmans G, Hankinson SE, Hoover RN, Hunter DJ, Hutchinson A, Jacobs K, Kooperberg C, Lynch SM, Mendelsohn JB, Michaud DS, Overvad K, Patel AV, Rajkovic A, Sanchéz MJ, Shu XO, Slimani N, Thomas G, Tobias GS, Trichopoulos D, Vineis P, Virtamo J, Wactawski-Wende J, Yu K, Zeleniuch-Jacquotte A, Hartge P, Fuchs CS

A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.

Nature genetics

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, Mandelson MT, Olson SH, Risch HA, Zheng W, Albanes D, Bamlet WR, Berg CD, Boutron-Ruault MC, Buring JE, Bracci PM, Canzian F, Clipp S, Cotterchio M, de Andrade M, Duell EJ, Gaziano JM, Giovannucci EL, Goggins M, Hallmans G, Hankinson SE, Hassan M, Howard B, Hunter DJ, Hutchinson A, Jenab M, Kaaks R, Kooperberg C, Krogh V, Kurtz RC, Lynch SM, McWilliams RR, Mendelsohn JB, Michaud DS, Parikh H, Patel AV, Peeters PH, Rajkovic A, Riboli E, Rodriguez L, Seminara D, Shu XO, Thomas G, Tjønneland A, Tobias GS, Trichopoulos D, Van Den Eeden SK, Virtamo J, Wactawski-Wende J, Wang Z, Wolpin BM, Yu H, Yu K, Zeleniuch-Jacquotte A, Fraumeni JF, Hoover RN, Hartge P, Chanock SJ

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

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

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, Bingham S, Buring JE, Bracci PM, Canzian F, Clavel-Chapelon F, Clipp S, Cotterchio M, de Andrade M, Duell EJ, Fox JW, Gallinger S, Gaziano JM, Giovannucci EL, Goggins M, González CA, Hallmans G, Hankinson SE, Hassan M, Holly EA, Hunter DJ, Hutchinson A, Jackson R, Jacobs KB, Jenab M, Kaaks R, Klein AP, Kooperberg C, Kurtz RC, Li D, Lynch SM, Mandelson M, McWilliams RR, Mendelsohn JB, Michaud DS, Olson SH, Overvad K, Patel AV, Peeters PH, Rajkovic A, Riboli E, Risch HA, Shu XO, Thomas G, Tobias GS, Trichopoulos D, Van Den Eeden SK, Virtamo J, Wactawski-Wende J, Wolpin BM, Yu H, Yu K, Zeleniuch-Jacquotte A, Chanock SJ, Hartge P, Hoover RN

Detection of novel copy number variants in uterine leiomyomas using high-resolution SNP arrays.

Molecular human reproduction

Bowden W, Skorupski J, Kovanci E, Rajkovic A

Relaxin signaling in uterine fibroids.

Annals of the New York Academy of Sciences

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

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, Rahman N, Jacobs K, Prentice R, Anderson GL, Rajkovic A, Curb JD, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Diver WR, Bojesen S, Nordestgaard BG, Flyger H, Dörk T, Schürmann P, Hillemanns P, Karstens JH, Bogdanova NV, Antonenkova NN, Zalutsky IV, Bermisheva M, Fedorova S, Khusnutdinova E, Kang D, Yoo KY, Noh DY, Ahn SH, Devilee P, van Asperen CJ, Tollenaar RA, Seynaeve C, Garcia-Closas M, Lissowska J, Brinton L, Peplonska B, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Hopper JL, Southey MC, Smith L, Spurdle AB, Schmidt MK, Broeks A, van Hien RR, Cornelissen S, Milne RL, Ribas G, González-Neira A, Benitez J, Schmutzler RK, Burwinkel B, Bartram CR, Meindl A, Brauch H, Justenhoven C, Hamann U, Chang-Claude J, Hein R, Wang-Gohrke S, Lindblom A, Margolin S, Mannermaa A, Kosma VM, Kataja V, Olson JE, Wang X, Fredericksen Z, Giles GG, Severi G, Baglietto L, English DR, Hankinson SE, Cox DG, Kraft P, Vatten LJ, Hveem K, Kumle M, Sigurdson A, Doody M, Bhatti P, Alexander BH, Hooning MJ, van den Ouweland AM, Oldenburg RA, Schutte M, Hall P, Czene K, Liu J, Li Y, Cox A, Elliott G, Brock I, Reed MW, Shen CY, Yu JC, Hsu GC, Chen ST, Anton-Culver H, Ziogas A, Andrulis IL, Knight JA, Beesley J, Goode EL, Couch F, Chenevix-Trench G, Hoover RN, Ponder BA, Hunter DJ, Pharoah PD, Dunning AM, Chanock SJ, Easton DF

Breast cancer after use of estrogen plus progestin in postmenopausal women.

The New England journal of medicine

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

MicroRNAs and mammalian ovarian development.

Seminars in reproductive medicine

Zhao H, Rajkovic A

Lim homeobox gene, lhx8, is essential for mouse oocyte differentiation and survival.

Biology of reproduction

Choi Y, Ballow DJ, Xin Y, Rajkovic A

Transcription factor FIGLA is mutated in patients with premature ovarian failure.

American journal of human genetics

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

Tanyi JL, Coleman NM, Johnston ND, Ayensu-Coker L, Rajkovic A

Analysis of LHX8 mutation in premature ovarian failure.

Fertility and sterility

Qin Y, Zhao H, Kovanci E, Simpson JL, Chen ZJ, Rajkovic A

NOBOX homeobox mutation causes premature ovarian failure.

American journal of human genetics

Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A

Genetics of ovarian failure and development.

Seminars in reproductive medicine

Rajkovic A

Microarray analyses of newborn mouse ovaries lacking Nobox.

Biology of reproduction

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

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

Qin Y, Zhao H, Kovanci E, Simpson JL, Chen ZJ, Rajkovic A

Candidate genes for premature ovarian failure.

Current medicinal chemistry

Suzumori N, Pangas SA, 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

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

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

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

Pangas SA, Rajkovic A

Restricted germ cell expression of a gene encoding a novel mammalian HORMA domain-containing protein.

Gene expression patterns : GEP

Pangas SA, Yan W, Matzuk MM, Rajkovic A

NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression.

Science (New York, N.Y.)

Rajkovic A, Pangas SA, Ballow D, Suzumori N, Matzuk MM

Expression of Drosophila neoplastic tumor suppressor genes discslarge, scribble, and lethal giant larvae in the mammalian ovary.

Gene expression patterns : GEP

Huang JH, Rajkovic A, Szafranski P, Ochsner S, Richards J, Goode S

Obox, a family of homeobox genes preferentially expressed in germ cells.


Rajkovic A, Yan C, Yan W, Klysik M, Matzuk MM

Functional analysis of oocyte-expressed genes using transgenic models.

Molecular and cellular endocrinology

Rajkovic A, Matzuk MM

Nobox is a homeobox-encoding gene preferentially expressed in primordial and growing oocytes.

Mechanisms of development

Suzumori N, Yan C, Matzuk MM, Rajkovic A