Benn P (2021) Uniparental disomy: origin, frequency, and clinical significance. Prenat Diagn 41(5):564–572

Article  CAS  PubMed  Google Scholar 

Bis DM, Schüle R, Reichbauer J, Synofzik M, Rattay TW, Soehn A, de Jonghe P, Schöls L, Züchner S (2017) Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias. Mol Genet Genom Med 5(3):280–286

Article  CAS  Google Scholar 

Chien S-C, Chen C-P, Liou J-D (2022) Prenatal diagnosis and genetic counseling of uniparental disomy. Taiwan J Obstet Gynecol 61(2):210–215

Article  PubMed  Google Scholar 

Cohen T, Vardi-Saliternik R, Friedlander Y (2004) Consanguinity, intracommunity and intercommunity marriages in a population sample of Israeli jews. Ann Hum Biol 31(1):38–48

Article  CAS  PubMed  Google Scholar 

Del Gaudio D, Shinawi M, Astbury C, Tayeh MK, Deak KL, Raca G (2020) Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). Genet Medicine: Official J Am Coll Med Genet 22(7):1133–1141

Article  Google Scholar 

Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, Gu S, Shaw CA, Smith JL, Lalani S, Stankiewicz P, Cheung S-W, Bacino CA, Patel A, Breman AM, Wang X, Meng L, Xiao R, Xia F, Muzny D, Gibbs RA, Beaudet AL, Eng CM, Lupski JR, Yang Y, Bi W (2019) Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome medicine 11(1):30

Eggermann T (2020) Prenatal Detection of Uniparental Disomies (UPD): intended and Incidental Finding in the era of Next Generation Genomics. Genes 11(12)

Eggermann T, Mackay JG, Tümer D Z (2018) Uniparental Disomy and Imprinting disorders. obm Genet 2(3):1

Article  Google Scholar 

Engel E, DeLozier-Blanchet CD (1991) Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection. Am J Med Genet 40(4):432–439

Article  CAS  PubMed  Google Scholar 

Erger F, Burau K, Elsässer M, Zimmermann K, Moog U, Netzer C (2018) Uniparental isodisomy as a cause of recessive mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses. Eur J Hum Genetics: EJHG 26(9):1392–1395

Article  CAS  PubMed  Google Scholar 

Fridman C, Koiffmann CP (2000) Origin of uniparental disomy 15 in patients with prader-willi or Angelman syndrome. Am J Med Genet 94(3):249–253

Article  CAS  PubMed  Google Scholar 

Gonzales PR, Andersen EF, Brown TR, Horner VL, Horwitz J, Rehder CW, Rudy NL, Robin NH, Thorland EC, On Behalf Of The Acmg Laboratory Quality Assurance, Committee (2022) Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Medicine: Official J Am Coll Med Genet 24(2):255–261

Article  CAS  Google Scholar 

Hoppman N, Rumilla K, Lauer E, Kearney H, Thorland E (2018) Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays. Genet Medicine: Official J Am Coll Med Genet 20(12):1522–1527

Article  CAS  Google Scholar 

Kotzot D (2001) Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements. J Med Genet 38(8):497–507

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kotzot D (2002) Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence? J Med Genet 39(10):775–778

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kotzot D, Utermann G (2005) Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated. Am J Med Genet: A 136(3):287–305

Article  PubMed  Google Scholar 

Liehr T (2010) Cytogenetic contribution to uniparental disomy (UPD). Mol Cytogenet 3:8

Article  PubMed  PubMed Central  Google Scholar 

Liehr T (2022) Uniparental disomy is a chromosomic disorder in the first place. Mol Cytogenet 15(1):5

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liehr T (2023) Cases with uniparental disomy. https://cs-tl.de/DB/CA/UPD/0-Start.html [accessed on 13.02.2023.]

Moch J, Radtke M, Gburek-Augustat J, Karnstedt M, Schönnagel S, Drukewitz SH, Pilgram L, Hentschel J, Schumann I (2023) Case report: complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis. Front Genet 14:1297754

Article  PubMed  PubMed Central  Google Scholar 

Nakka P, Pattillo Smith S, O’Donnell-Luria AH, McManus KF, Mountain JL, Ramachandran S, Sathirapongsasuti JF (2019) Characterization of Prevalence and Health Consequences of Uniparental Disomy in four million individuals from the General Population. Am J Hum Genet 105(5):921–932

Article  CAS  PubMed  PubMed Central  Google Scholar 

Papenhausen P, Schwartz S, Risheg H, Keitges E, Gadi I, Burnside RD, Jaswaney V, Pappas J, Pasion R, Friedman K, Tepperberg J (2011) UPD detection using homozygosity profiling with a SNP genotyping microarray. American journal of medical genetics. Part A 155A(4):757–768

Google Scholar 

Radtke M, Moch J, Hentschel J, Schumann I (2023) altAFplotter: a web app for reliable UPD detection in NGS diagnostics. bioRxiv:2023.08.08.546838

Robinson WP (2000) Mechanisms leading to uniparental disomy and their clinical consequences. BioEssays 22(5):452–459

Article  CAS  PubMed  Google Scholar 

Scuffins J, Keller-Ramey J, Dyer L, Douglas G, Torene R, Gainullin V, Juusola J, Meck J, Retterer K (2021) Uniparental disomy in a population of 32,067 clinical exome trios. Genet Medicine: Official J Am Coll Med Genet 23(6):1101–1107

Article  CAS  Google Scholar 

Tran Mau-Them F, Duffourd Y, Vitobello A, Bruel A-L, Denommé-Pichon A-S, Nambot S, Delanne J, Moutton S, Sorlin A, Couturier V, Bourgeois V, Chevarin M, Poe C, Mosca-Boidron A-L, Callier P, Safraou H, Faivre L, Philippe C, Thauvin-Robinet C (2021) Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases. Mol Genet Genom Med 9(12):e1836

Article  CAS  Google Scholar 

Veltman MWM, Craig EE, Bolton PF (2005) Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review. Psychiatr Genet 15(4):243–254

Article  PubMed  Google Scholar 

Wang L, Liu P, Bi W, Sim T, Wang X, Walkiewicz M, Leduc MS, Meng L, Xia F, Eng CM, Yang Y, Yuan B, Dai H (2021) Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. Mol Genet Genom Med 9(11):e1792

Article  CAS  Google Scholar 

Yauy K, de Leeuw N, Yntema HG, Pfundt R, Gilissen C (2020) Accurate detection of clinically relevant uniparental disomy from exome sequencing data. Genet Medicine: Official J Am Coll Med Genet 22(4):803–808. https://doi.org/10.1038/s41436-019-0704-x

Article  CAS  Google Scholar