Author details

Full Name

Aleksandar Rajkovic

Affiliation

ORCID

Career Start Year

1985

Papers

167

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37882230	45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.	Am J Med Genet A	2024
36723967	Sohlh1 loss of function male and female infertility model impacts overall health beyond gonadal dysfunction in miceâ¿ .		2023
36445717	Copy Number Loss at Chromosome 14q11.2 Correlates With the Proportion of T Cells in Biopsies and Helps Identify T-Cell Neoplasms.		2023
36585450	Multiomics in primary and metastatic breast tumors from the AURORA US network finds microenvironment and epigenetic drivers of metastasis.	Nat Cancer	2023
37453019	Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency.		2023
36869713	DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis.	J Clin Endocrinol Metab	2023
37353149	Pharmacogenomics and Personalized Medicine for Neonatal Care.		2023
35243492	Primordial follicle activation: to be or not to be takes another twist.	Biology of Reproduction	2022
35532184	Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database.	Clinical Genetics	2022
35437714	Modeling primary ovarian insufficiency-associated loci in C. elegans identifies novel pathogenic allele of MSH5.		2022
36001050	Single-cell sequencing reveals novel cellular heterogeneity in uterine leiomyomas.	Human Reproduction	2022
35940519	A Novel Integrated Approach for Cytogenomic Evaluation of Plasma Cell Neoplasms.	Journal of Molecular Diagnostics	2022
35218660	Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency.	Journal of Clinical Endocrinology and Metabolism	2022
34718612	Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.	J Clin Endocrinol Metab	2022
34480478	Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.	Human Reproduction	2021
33972719	Reproductive outcomes in individuals with chromosomal reciprocal translocations.	Genet Med	2021
33539926	Motifs of the C-terminal domain of MCM9 direct localization to sites of mitomycin-C damage for RAD51 recruitment.	Journal of Biological Chemistry	2021
34285390	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).	Genet Med	2021
33666368	Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.	Mol Genet Genomic Med	2021
34333627	Deletion of Gremlin-2 alters estrous cyclicity and disrupts female fertility in miceâ¿ .	Biology of Reproduction	2021
33015842	Cytogenetic signatures of recurrent pregnancy losses.	Prenatal Diagnosis	2021
34453133	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).	Genet Med	2021
34849445	Association of 17q22 Amplicon Via Cell-Free DNA With Platinum Chemotherapy Response in Metastatic Triple-Negative Breast Cancer.	JCO Precis Oncol	2021
32607512	Female reproductive tract has low concentration of SARS-CoV2 receptors.		2020
31729099	Knowledge and opinions regarding BRCA1 and BRCA2 genetic testing among primary care physicians.	Journal of Genetic Counseling	2020
32164318	Loss of Cx43 in Murine Sertoli Cells Leads to Altered Prepubertal Sertoli Cell Maturation and Impairment of the Mitosis-Meiosis Switch.	Cells	2020
32493750	Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (<i>WT1</i>) gene.	Proc Natl Acad Sci U S A	2020
33315943	Female reproductive tract has low concentration of SARS-CoV2 receptors.	PLoS ONE	2020
33009833	Copy number alterations involving 59 ACMG-recommended secondary findings genes.	Clin Genet	2020
30667496	Cell-Free DNA Screening During Pregnancy.	JAMA - Journal of the American Medical Association	2019
31704792	Loss of the E2 SUMO-conjugating enzyme in oocytes during ovarian folliculogenesis causes infertility in mice.	Development (Cambridge)	2019
30406445	Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.	J Assist Reprod Genet	2019
30048823	Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation.	Eur J Med Genet	2019
31077289	Genetics of human female infertilityâ¿ .	Biology of Reproduction	2019
30948856	A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency.	Genet Med	2019
29363275	Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency.	Mol Genet Genomic Med	2018
28463906	Synchronous Bilateral Tubal Serous Carcinomas in a Patient With Exon 13 Duplication and Loss of Function of BRCA1.	International Journal of Gynecological Pathology	2018
29028960	Ovarian Follicular Theca Cell Recruitment, Differentiation, and Impact on Fertility: 2017 Update.	Endocrine Reviews	2018
30016538	A novel homozygous frame-shift variant in the LHCGR gene is associated with primary ovarian insufficiency in a Pakistani family.	Clin Genet	2018
30389958	X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.	Sci Rep	2018
29392406	Importance of complete phenotyping in prenatal whole exome sequencing.	Hum Genet	2018
29178422	Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.	Clin Genet	2018
29425284	Chromosomal instability in women with primary ovarian insufficiency.	Human Reproduction	2018
29373757	Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.	Human Molecular Genetics	2018
28306738	Comparative evaluation of the Minimally-Invasive Karyotyping (MINK) algorithm for non-invasive prenatal testing.	PLoS One	2017
28504655	Transcription factors SOHLH1 and SOHLH2 coordinate oocyte differentiation without affecting meiosis I.	Journal of Clinical Investigation	2017
28483799	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
28658706	Ovary as a Biomarker of Health and Longevity: Insights from Genetics.	Seminars in Reproductive Medicine	2017
29048729	Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3.	Am J Med Genet A	2017
29126187	Med12 regulates ovarian steroidogenesis, uterine development and maternal effects in the mammalian egg.	Biology of Reproduction	2017