University of PittsBurgh
Member Details

Alexander N Yatsenko
Associate Professor
University of Pittsburgh
School of Medicine
204 Craft Avenue
A206 Pittsburgh
PA 15213


Team Members


  • Chris Pombar – PhD Student
  • Rachel Hvasta – Masters Student
  • Catino Marin – BS Student

The genomics working group will focus on setting standards for performing, analyzing and sharing data from genomics studies.

Member Description

The Yatsenko Research Group utilizes molecular DNA, RNA and novel genomic high-through put approaches to decipher genetic defects underlying male infertility. Their goal is to improve genetic diagnosis for infertile men via application of new procedures and scientific findings into clinical practice. Currently, the diagnosis for male infertility is limited to testing of a small proportion of patients for chromosome aberrations. Current therapies available for this condition are IVF and ICSI procedures, while there is no single feature that has been shown to accurately predict the success rate for these procedures or the future health of children born via these technologies.

Using cytogenetic, DNA and RNA sequencing, array comparative genomic hybridization (CGH), and next generation sequencing, the group examines hundreds of patients of several disease categories with male infertility for various genetic defects that would cause or influence male infertility. All genetic findings are subject for careful examination via statistical, computational and functional in vitro and/or vivo approaches. Priorities are given to novel or known molecular mechanisms causing male infertility that can be modified by medication.


Ding X, Singh P, Schimenti K et al. (2023) In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes. Proc Natl Acad Sci USA. 120(30): e2219925120.

Qureshi S, Hardy JJ, Pombar C et al. (2023) Genomic study of TEX15 variants: prevalence and allelic heterogeneity in men with spermatogenic failure. Front. Genet.

Wyrwoll MJ, Wabschke R, Röpke A et al. (2022) Analysis of copy number variation in men with non-obstructive azoospermia. Andrology.

Malcher A, Stokowy T, Berman A et al. (2022) Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia. Andrology.

Hardy J, Pollock N, Gingrich T et al. (2022) Genomic testing for copy number and single nucleotide variants in spermatogenic failure. J Assist Reprod Genet. 39(9):2103-2114.

Hardy JJ, Wyrwoll MJ, Mcfadden W et al. (2021) Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure. Human Genetics, 140(8), 1169–1182.

Bhargava V, Goldstein CD, Russell L et al. (2020) GCNA Preserves Genome Integrity and Fertility Across Species. Developmental Cell, 52(1), 38-52.e10.

Kim O, Park EY, Klinkebiel DL et al. (2020) In vivo modeling of metastatic human high-grade serous ovarian cancer in mice. PLOS Genetics, 16(6), e1008808.

Olszewska M, Stokowy T, Pollock N et al. (2020)Familial Infertility (Azoospermia and Cryptozoospermia) in Two Brothers—Carriers of t(1;7) Complex Chromosomal Rearrangement (CCR): Molecular Cytogenetic Analysis. International Journal of Molecular Sciences, 21(12), 4559.

 Khan MJ, Pollock N, Jiang H et al. (2018) X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family. Sci Rep. 8(1):16280.

Yatsenko AN, Georgiadis AP, Röpke A, et al (2015) X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men. N Engl J Med 372:2097–2107.


P50 NIH Grant HD096723 Title: Genetics of Male Infertility: A Marker of Overall Health – Project 1