Uniparental disomy (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Uniparental disomy" in English language version.

refsWebsite

Global rank English rank

13nih.gov

4^th place

6doi.org

2^nd place

3worldcat.org

5^th place

1semanticscholar.org

11^th place

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1archive.org

6^th place

1ufl.edu

921^st place

644^th place

1web.archive.org

1^st place

1omim.org

4,380^th place

4,305^th place

1diseasesdatabase.com

low place

1archive.today

14^th place

archive.org

Human Molecular Genetics 3. Garland Science. pp. 58. ISBN 0-8153-4183-0.

archive.today

Bhatt, Arpan; Liehr, Thomas; Bakshi, Sonal R. (2013). "Phenotypic spectrum in uniparental disomy: Low incidence or lack of study". Indian Journal of Human Genetics. 19 (3): 131–34. doi:10.4103/0971-6866.120819. PMC 3841555. PMID 24339543. Archived from the original on 2014-02-20.{{cite journal}}: CS1 maint: unfit URL (link)

diseasesdatabase.com

Duncan, Malcolm (1 September 2020). "Chromosome 14 uniparental disomy syndrome information Diseases Database". www.diseasesdatabase.com. Retrieved 1 September 2020.

doi.org

Robinson WP (May 2000). "Mechanisms leading to uniparental disomy and their clinical consequences". BioEssays. 22 (5): 452–9. doi:10.1002/(SICI)1521-1878(200005)22:5<452::AID-BIES7>3.0.CO;2-K. PMID 10797485. S2CID 19446912.
King DA (2013). "A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders". Genome Research. 24 (4): 673–687. doi:10.1101/gr.160465.113. PMC 3975066. PMID 24356988.
Nakka, Priyanka; Smith, Samuel Pattillo; O'Donnell-Luria, Anne H.; McManus, Kimberly F.; Agee, Michelle; Auton, Adam; Bell, Robert K.; Bryc, Katarzyna; Elson, Sarah L.; Fontanillas, Pierre; Furlotte, Nicholas A. (2019-11-07). "Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population". The American Journal of Human Genetics. 105 (5): 921–932. doi:10.1016/j.ajhg.2019.09.016. ISSN 0002-9297. PMC 6848996. PMID 31607426.
Bhatt, Arpan; Liehr, Thomas; Bakshi, Sonal R. (2013). "Phenotypic spectrum in uniparental disomy: Low incidence or lack of study". Indian Journal of Human Genetics. 19 (3): 131–34. doi:10.4103/0971-6866.120819. PMC 3841555. PMID 24339543. Archived from the original on 2014-02-20.{{cite journal}}: CS1 maint: unfit URL (link)
Bens, Susanne; Luedeke, Manuel; Richter, Tanja; Graf, Melanie; Kolarova, Julia; Barbi, Gotthold; Lato, Krisztian; Barth, Thomas F.; Siebert, Reiner (2017). "Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge". Clinical Epigenetics. 9: 111. doi:10.1186/s13148-017-0410-y. ISSN 1868-7083. PMC 5640928. PMID 29046733.
del Gaudio, Daniela; Shinawi, Marwan; Astbury, Caroline; Tayeh, Marwan K.; Deak, Kristen L.; Raca, Gordana (2020-07-01). "Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)". Genetics in Medicine. 22 (7): 1133–1141. doi:10.1038/s41436-020-0782-9. PMID 32296163.

nih.gov

pubmed.ncbi.nlm.nih.gov

Robinson WP (May 2000). "Mechanisms leading to uniparental disomy and their clinical consequences". BioEssays. 22 (5): 452–9. doi:10.1002/(SICI)1521-1878(200005)22:5<452::AID-BIES7>3.0.CO;2-K. PMID 10797485. S2CID 19446912.
King DA (2013). "A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders". Genome Research. 24 (4): 673–687. doi:10.1101/gr.160465.113. PMC 3975066. PMID 24356988.
Nakka, Priyanka; Smith, Samuel Pattillo; O'Donnell-Luria, Anne H.; McManus, Kimberly F.; Agee, Michelle; Auton, Adam; Bell, Robert K.; Bryc, Katarzyna; Elson, Sarah L.; Fontanillas, Pierre; Furlotte, Nicholas A. (2019-11-07). "Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population". The American Journal of Human Genetics. 105 (5): 921–932. doi:10.1016/j.ajhg.2019.09.016. ISSN 0002-9297. PMC 6848996. PMID 31607426.
Bhatt, Arpan; Liehr, Thomas; Bakshi, Sonal R. (2013). "Phenotypic spectrum in uniparental disomy: Low incidence or lack of study". Indian Journal of Human Genetics. 19 (3): 131–34. doi:10.4103/0971-6866.120819. PMC 3841555. PMID 24339543. Archived from the original on 2014-02-20.{{cite journal}}: CS1 maint: unfit URL (link)
Bens, Susanne; Luedeke, Manuel; Richter, Tanja; Graf, Melanie; Kolarova, Julia; Barbi, Gotthold; Lato, Krisztian; Barth, Thomas F.; Siebert, Reiner (2017). "Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge". Clinical Epigenetics. 9: 111. doi:10.1186/s13148-017-0410-y. ISSN 1868-7083. PMC 5640928. PMID 29046733.
Engel, E. (1980-03-01). "A new genetic concept: the uniparental disomy and its potential effect, the isodisomy (author's transl)". Journal de Génétique Humaine. 28 (1): 11–22. ISSN 0021-7743. PMID 7400781.
del Gaudio, Daniela; Shinawi, Marwan; Astbury, Caroline; Tayeh, Marwan K.; Deak, Kristen L.; Raca, Gordana (2020-07-01). "Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)". Genetics in Medicine. 22 (7): 1133–1141. doi:10.1038/s41436-020-0782-9. PMID 32296163.
Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL (1988). "Uniparental disomy as a mechanism for human genetic disease". American Journal of Human Genetics. 42 (2): 217–226. PMC 1715272. PMID 2893543.

ncbi.nlm.nih.gov

King DA (2013). "A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders". Genome Research. 24 (4): 673–687. doi:10.1101/gr.160465.113. PMC 3975066. PMID 24356988.
Nakka, Priyanka; Smith, Samuel Pattillo; O'Donnell-Luria, Anne H.; McManus, Kimberly F.; Agee, Michelle; Auton, Adam; Bell, Robert K.; Bryc, Katarzyna; Elson, Sarah L.; Fontanillas, Pierre; Furlotte, Nicholas A. (2019-11-07). "Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population". The American Journal of Human Genetics. 105 (5): 921–932. doi:10.1016/j.ajhg.2019.09.016. ISSN 0002-9297. PMC 6848996. PMID 31607426.
Bhatt, Arpan; Liehr, Thomas; Bakshi, Sonal R. (2013). "Phenotypic spectrum in uniparental disomy: Low incidence or lack of study". Indian Journal of Human Genetics. 19 (3): 131–34. doi:10.4103/0971-6866.120819. PMC 3841555. PMID 24339543. Archived from the original on 2014-02-20.{{cite journal}}: CS1 maint: unfit URL (link)
Bens, Susanne; Luedeke, Manuel; Richter, Tanja; Graf, Melanie; Kolarova, Julia; Barbi, Gotthold; Lato, Krisztian; Barth, Thomas F.; Siebert, Reiner (2017). "Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge". Clinical Epigenetics. 9: 111. doi:10.1186/s13148-017-0410-y. ISSN 1868-7083. PMC 5640928. PMID 29046733.
Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL (1988). "Uniparental disomy as a mechanism for human genetic disease". American Journal of Human Genetics. 42 (2): 217–226. PMC 1715272. PMID 2893543.

omim.org

"OMIM Entry - # 608149 - KAGAMI-OGATA SYNDROME". omim.org. Retrieved 1 September 2020.

semanticscholar.org

api.semanticscholar.org

Robinson WP (May 2000). "Mechanisms leading to uniparental disomy and their clinical consequences". BioEssays. 22 (5): 452–9. doi:10.1002/(SICI)1521-1878(200005)22:5<452::AID-BIES7>3.0.CO;2-K. PMID 10797485. S2CID 19446912.

ufl.edu

peds.ufl.edu

"Meiosis: Uniparental Disomy". Retrieved 29 February 2016.

web.archive.org

Angelman Syndrome, Online Mendelian Inheritance in Man

worldcat.org

search.worldcat.org

Nakka, Priyanka; Smith, Samuel Pattillo; O'Donnell-Luria, Anne H.; McManus, Kimberly F.; Agee, Michelle; Auton, Adam; Bell, Robert K.; Bryc, Katarzyna; Elson, Sarah L.; Fontanillas, Pierre; Furlotte, Nicholas A. (2019-11-07). "Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population". The American Journal of Human Genetics. 105 (5): 921–932. doi:10.1016/j.ajhg.2019.09.016. ISSN 0002-9297. PMC 6848996. PMID 31607426.
Bens, Susanne; Luedeke, Manuel; Richter, Tanja; Graf, Melanie; Kolarova, Julia; Barbi, Gotthold; Lato, Krisztian; Barth, Thomas F.; Siebert, Reiner (2017). "Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge". Clinical Epigenetics. 9: 111. doi:10.1186/s13148-017-0410-y. ISSN 1868-7083. PMC 5640928. PMID 29046733.
Engel, E. (1980-03-01). "A new genetic concept: the uniparental disomy and its potential effect, the isodisomy (author's transl)". Journal de Génétique Humaine. 28 (1): 11–22. ISSN 0021-7743. PMID 7400781.