
Professor
Pathology
+1 415 502-4961
Aleksandar Rajkovic, PhD is the Chief Genomics Officer of UCSF Health. His research interests lie in basic and translational reproductive genomics, studying reproductive tract pathologies in the context of developmental biology.
Publications
Assessing the Utilization of Electronic Consultations in Genetics: Seven-Year Retrospective Study.
JMIR formative research
Uterine Fibroids.
Physiological reviews
Uterine fibroids at single-cell resolution: unveiling cellular heterogeneity to improve understanding of pathogenesis and guide future therapies.
American journal of obstetrics and gynecology
Clinical implementation of preemptive pharmacogenomics testing for personalized medicine at an academic medical center.
Journal of the American Medical Informatics Association : JAMIA
Discrepancies Between Sex Prediction and Fetal Sex After Prenatal Noninvasive Cell-Free DNA Screening.
Journal of the Endocrine Society
Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0.
American journal of human genetics
Protocol for handling and using SOD1 mice for amyotrophic lateral sclerosis pre-clinical studies.
STAR protocols
MGA loss-of-function variants cause premature ovarian insufficiency.
The Journal of clinical investigation
Recurrent Xp22.31-Yq11 Unbalanced Translocations: Molecular Diagnosis and Clinical Implications in Three Families.
American journal of medical genetics. Part A
Translational challenges in amyotrophic lateral sclerosis therapy with macrophage migration inhibitory factor.
Neural regeneration research
Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic Testing.
The Journal of molecular diagnostics : JMD
Copy-number variants in the ACMG secondary finding genes: A reporting framework for clinical cytogeneticists.
Genetics in medicine open
Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants.
Human genetics
45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.
American journal of medical genetics. Part A
Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency.
Journal of assisted reproduction and genetics
Pharmacogenomics and Personalized Medicine for Neonatal Care.
The Journal of pediatrics
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
Sohlh1 loss of function male and female infertility model impacts overall health beyond gonadal dysfunction in mice†.
Biology of reproduction
Leveraging electronic health records to identify risk factors for recurrent pregnancy loss across two medical centers: a case-control study.
Research square
Single-cell sequencing reveals novel cellular heterogeneity in uterine leiomyomas.
Human reproduction (Oxford, England)
A Novel Integrated Approach for Cytogenomic Evaluation of Plasma Cell Neoplasms.
The Journal of molecular diagnostics : JMD
Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database.
Clinical genetics
Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency.
The Journal of clinical endocrinology and metabolism
Primordial follicle activation: to be or not to be takes another twist.
Biology of reproduction
Deletion of Gremlin-2 alters estrous cyclicity and disrupts female fertility in mice†.
Biology of reproduction
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
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
Reproductive outcomes in individuals with chromosomal reciprocal translocations.
Genetics in medicine : official journal of the American College of Medical Genetics
Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.
Molecular genetics & genomic medicine
Motifs of the C-terminal domain of MCM9 direct localization to sites of mitomycin-C damage for RAD51 recruitment.
The Journal of biological chemistry
Cytogenetic signatures of recurrent pregnancy losses.
Prenatal diagnosis
Female reproductive tract has low concentration of SARS-CoV2 receptors.
bioRxiv : the preprint server for biology
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
Genetics of human female infertility†.
Biology of reproduction
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
Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.
Journal of assisted reproduction and genetics
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Scientific reports
Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation.
European journal of medical genetics
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Human molecular genetics
Chromosomal instability in women with primary ovarian insufficiency.
Human reproduction (Oxford, England)
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
Ovarian Follicular Theca Cell Recruitment, Differentiation, and Impact on Fertility: 2017 Update.
Endocrine reviews
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
Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3.
American journal of medical genetics. Part A
Ovary as a Biomarker of Health and Longevity: Insights from Genetics.
Seminars in reproductive medicine
Transcription factors SOHLH1 and SOHLH2 coordinate oocyte differentiation without affecting meiosis I.
The Journal of clinical investigation
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
Genetics of Reproductive Aging from Gonadal Dysgenesis through Menopause.
Seminars in reproductive medicine
MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency.
The Journal of clinical endocrinology and metabolism
Med12 regulates ovarian steroidogenesis, uterine development and maternal effects in the mammalian egg.
Biology of reproduction
Highly heterogeneous genomic landscape of uterine leiomyomas by whole exome sequencing and genome-wide arrays.
Fertility and sterility
A design thinking approach to primary ovarian insufficiency.
Panminerva medica
Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.
American journal of medical genetics. Part A
Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.
American journal of medical genetics. Part A
Expansion of phenotype and genotypic data in CRB2-related syndrome.
European journal of human genetics : EJHG
Response to Sahoo et al.
Genetics in medicine : official journal of the American College of Medical Genetics
Med12 gain-of-function mutation causes leiomyomas and genomic instability.
The Journal of clinical investigation
Prenatal whole-exome sequencing: parental attitudes.
Prenatal diagnosis
Reproductive aging and MCM8/9.
Oncotarget
X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.
The New England journal of medicine
Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene.
American journal of medical genetics. Part A
Cell-free nucleic acids as non-invasive biomarkers of gynecological disorders, fetal aneuploidy and constitutional maternal chromosomal mosaicism.
Human reproduction update
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
MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.
American journal of human genetics
Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.
The Journal of clinical investigation
Recent advances of genomic testing in perinatal medicine.
Seminars in perinatology
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
High quality RNA in semen and sperm: isolation, analysis and potential application in clinical testing.
The Journal of urology
Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism.
American journal of medical genetics. Part A
Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease.
Case reports in genetics
The transition from stem cell to progenitor spermatogonia and male fertility requires the SHP2 protein tyrosine phosphatase.
Stem cells (Dayton, Ohio)
High resolution non-invasive detection of a fetal microdeletion using the GCREM algorithm.
Prenatal diagnosis
Meta-analysis of loci associated with age at natural menopause in African-American women.
Human molecular genetics
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
Spermatogonial SOHLH1 nucleocytoplasmic shuttling associates with initiation of spermatogenesis in the rhesus monkey (Macaca mulatta).
Molecular human reproduction
Genomic markers of ovarian reserve.
Seminars in reproductive medicine
Mouse HORMAD1 is a meiosis i checkpoint protein that modulates DNA double- strand break repair during female meiosis.
Biology of reproduction
Genome-wide association study of age at menarche in African-American women.
Human molecular genetics
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
Generation of a germ cell-specific mouse transgenic CHERRY reporter, Sohlh1-mCherryFlag.
Genesis (New York, N.Y. : 2000)
Biological significance of HORMA domain containing protein 1 (HORMAD1) in epithelial ovarian carcinoma.
Cancer letters
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
Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.
Fetal diagnosis and therapy
Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study.
Human molecular genetics
Noninvasive prenatal diagnosis of a fetal microdeletion syndrome.
The New England journal of medicine
SOHLH1 and SOHLH2 coordinate spermatogonial differentiation.
Developmental biology
Oogenesis: transcriptional regulators and mouse models.
Molecular and cellular endocrinology
Complex X chromosome rearrangement delineated by array comparative genome hybridization in a woman with premature ovarian insufficiency.
Fertility and sterility
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
Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure.
Fertility and sterility
Body size phenotypes and inflammation in the Women's Health Initiative Observational Study.
Obesity (Silver Spring, Md.)
Hormad1 mutation disrupts synaptonemal complex formation, recombination, and chromosome segregation in mammalian meiosis.
PLoS genetics
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
Family history of cancer and risk of pancreatic cancer: a pooled analysis from the Pancreatic Cancer Cohort Consortium (PanScan).
International journal of cancer
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.)
MicroRNA transcriptome in the newborn mouse ovaries determined by massive parallel sequencing.
Molecular human reproduction
Low-fat dietary pattern and lipoprotein risk factors: the Women's Health Initiative Dietary Modification Trial.
The American journal of clinical nutrition
Pancreatic cancer risk and ABO blood group alleles: results from the pancreatic cancer cohort consortium.
Cancer research
A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.
Nature genetics
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
Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer.
Nature genetics
Detection of novel copy number variants in uterine leiomyomas using high-resolution SNP arrays.
Molecular human reproduction
Relaxin signaling in uterine fibroids.
Annals of the New York Academy of Sciences
Breast cancer after use of estrogen plus progestin in postmenopausal women.
The New England journal of medicine
MicroRNAs and mammalian ovarian development.
Seminars in reproductive medicine
Germ cell-specific transcriptional regulator sohlh2 is essential for early mouse folliculogenesis and oocyte-specific gene expression.
Biology of reproduction
Expression and localization of the novel and highly conserved gametocyte-specific factor 1 during oogenesis and spermatogenesis.
Fertility and sterility
Lim homeobox gene, lhx8, is essential for mouse oocyte differentiation and survival.
Biology of reproduction
Transcription factor FIGLA is mutated in patients with premature ovarian failure.
American journal of human genetics
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
Analysis of LHX8 mutation in premature ovarian failure.
Fertility and sterility
NOBOX homeobox mutation causes premature ovarian failure.
American journal of human genetics
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)
Genetics of ovarian failure and development.
Seminars in reproductive medicine
Microarray analyses of newborn mouse ovaries lacking Nobox.
Biology of reproduction
Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure.
Fertility and sterility
Mutation analysis of NANOS3 in 80 Chinese and 88 Caucasian women with premature ovarian failure.
Fertility and sterility
Candidate genes for premature ovarian failure.
Current medicinal chemistry
Characterization of NOBOX DNA binding specificity and its regulation of Gdf9 and Pou5f1 promoters.
The Journal of biological chemistry
Oogenesis requires germ cell-specific transcriptional regulators Sohlh1 and Lhx8.
Proceedings of the National Academy of Sciences of the United States of America
Sohlh2 is a germ cell-specific bHLH transcription factor.
Gene expression patterns : GEP
TEX14 is essential for intercellular bridges and fertility in male mice.
Proceedings of the National Academy of Sciences of the United States of America
Transcriptional regulation of early oogenesis: in search of masters.
Human reproduction update
Restricted germ cell expression of a gene encoding a novel mammalian HORMA domain-containing protein.
Gene expression patterns : GEP
NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression.
Science (New York, N.Y.)
Identification of expressed sequence tags preferentially expressed in human placentas by in silico subtraction.
Prenatal diagnosis
Sequence and expression of testis-expressed gene 14 (Tex14): a gene encoding a protein kinase preferentially expressed during spermatogenesis.
Gene expression patterns : GEP
Expression of Drosophila neoplastic tumor suppressor genes discslarge, scribble, and lethal giant larvae in the mammalian ovary.
Gene expression patterns : GEP
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.)
The ret finger protein-like 4 gene, Rfpl4, encodes a putative E3 ubiquitin-protein ligase expressed in adult germ cells.
Mechanisms of development
Functional analysis of oocyte-expressed genes using transgenic models.
Molecular and cellular endocrinology
Nobox is a homeobox-encoding gene preferentially expressed in primordial and growing oocytes.
Mechanisms of development