Bosch–Boonstra–Schaaf optic atrophy syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Bosch–Boonstra–Schaaf optic atrophy syndrome" in English language version.

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4nih.gov

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3doi.org

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3worldcat.org

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1omim.org

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doi.org

Bosch, Daniëlle G.M.; Boonstra, F. Nienke; Gonzaga-Jauregui, Claudia; Xu, Mafei; de Ligt, Joep; Jhangiani, Shalini; Wiszniewski, Wojciech; Muzny, Donna M.; Yntema, Helger G.; Pfundt, Rolph; Vissers, Lisenka E.L.M.; Spruijt, Liesbeth; Blokland, Ellen A.W.; Chen, Chun-An; Lewis, Richard A.; Tsai, Sophia Y.; Gibbs, Richard A.; Tsai, Ming-Jer; Lupski, James R.; Zoghbi, Huda Y.; Cremers, Frans P.M.; de Vries, Bert B.A.; Schaaf, Christian P. (2014). "NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability". The American Journal of Human Genetics. 94 (2). Elsevier BV: 303–309. doi:10.1016/j.ajhg.2014.01.002. ISSN 0002-9297. PMC 3928641. PMID 24462372.
Chen, Chun-An; Bosch, Daniëlle G.M.; Cho, Megan T.; Rosenfeld, Jill A.; Shinawi, Marwan; Lewis, Richard Alan; Mann, John; Jayakar, Parul; Payne, Katelyn; Walsh, Laurence; Moss, Timothy; Schreiber, Allison; Schoonveld, Cheri; Monaghan, Kristin G.; Elmslie, Frances; Douglas, Ganka; Boonstra, F. Nienke; Millan, Francisca; Cremers, Frans P.M.; McKnight, Dianalee; Richard, Gabriele; Juusola, Jane; Kendall, Fran; Ramsey, Keri; Anyane-Yeboa, Kwame; Malkin, Elfrida; Chung, Wendy K.; Niyazov, Dmitriy; Pascual, Juan M.; Walkiewicz, Magdalena; Veluchamy, Vivekanand; Li, Chumei; Hisama, Fuki M.; de Vries, Bert B.A.; Schaaf, Christian (2016). "The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations". Genetics in Medicine. 18 (11). Elsevier BV: 1143–1150. doi:10.1038/gim.2016.18. ISSN 1098-3600.
Chen, Chun-An; Wang, Wei; Pedersen, Steen E; Raman, Ayush; Seymour, Michelle L; Ruiz, Fernanda R; Xia, Anping; van der Heijden, Meike E; Wang, Li; Yin, Jiani; Lopez, Joanna; Rech, Megan E; Lewis, Richard A; Wu, Samuel M; Liu, Zhandong; Pereira, Fred A; Pautler, Robia G; Zoghbi, Huda Y; Schaaf, Christian P (2020-03-27). "Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity". Human Molecular Genetics. 29 (5): 705–715. doi:10.1093/hmg/ddz233. ISSN 0964-6906. PMC 7104670. PMID 31600777.

nih.gov

ncbi.nlm.nih.gov

Bosch, Daniëlle G.M.; Boonstra, F. Nienke; Gonzaga-Jauregui, Claudia; Xu, Mafei; de Ligt, Joep; Jhangiani, Shalini; Wiszniewski, Wojciech; Muzny, Donna M.; Yntema, Helger G.; Pfundt, Rolph; Vissers, Lisenka E.L.M.; Spruijt, Liesbeth; Blokland, Ellen A.W.; Chen, Chun-An; Lewis, Richard A.; Tsai, Sophia Y.; Gibbs, Richard A.; Tsai, Ming-Jer; Lupski, James R.; Zoghbi, Huda Y.; Cremers, Frans P.M.; de Vries, Bert B.A.; Schaaf, Christian P. (2014). "NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability". The American Journal of Human Genetics. 94 (2). Elsevier BV: 303–309. doi:10.1016/j.ajhg.2014.01.002. ISSN 0002-9297. PMC 3928641. PMID 24462372.
Chen, Chun-An; Wang, Wei; Pedersen, Steen E; Raman, Ayush; Seymour, Michelle L; Ruiz, Fernanda R; Xia, Anping; van der Heijden, Meike E; Wang, Li; Yin, Jiani; Lopez, Joanna; Rech, Megan E; Lewis, Richard A; Wu, Samuel M; Liu, Zhandong; Pereira, Fred A; Pautler, Robia G; Zoghbi, Huda Y; Schaaf, Christian P (2020-03-27). "Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity". Human Molecular Genetics. 29 (5): 705–715. doi:10.1093/hmg/ddz233. ISSN 0964-6906. PMC 7104670. PMID 31600777.

pubmed.ncbi.nlm.nih.gov

Bosch, Daniëlle G.M.; Boonstra, F. Nienke; Gonzaga-Jauregui, Claudia; Xu, Mafei; de Ligt, Joep; Jhangiani, Shalini; Wiszniewski, Wojciech; Muzny, Donna M.; Yntema, Helger G.; Pfundt, Rolph; Vissers, Lisenka E.L.M.; Spruijt, Liesbeth; Blokland, Ellen A.W.; Chen, Chun-An; Lewis, Richard A.; Tsai, Sophia Y.; Gibbs, Richard A.; Tsai, Ming-Jer; Lupski, James R.; Zoghbi, Huda Y.; Cremers, Frans P.M.; de Vries, Bert B.A.; Schaaf, Christian P. (2014). "NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability". The American Journal of Human Genetics. 94 (2). Elsevier BV: 303–309. doi:10.1016/j.ajhg.2014.01.002. ISSN 0002-9297. PMC 3928641. PMID 24462372.
Chen, Chun-An; Wang, Wei; Pedersen, Steen E; Raman, Ayush; Seymour, Michelle L; Ruiz, Fernanda R; Xia, Anping; van der Heijden, Meike E; Wang, Li; Yin, Jiani; Lopez, Joanna; Rech, Megan E; Lewis, Richard A; Wu, Samuel M; Liu, Zhandong; Pereira, Fred A; Pautler, Robia G; Zoghbi, Huda Y; Schaaf, Christian P (2020-03-27). "Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity". Human Molecular Genetics. 29 (5): 705–715. doi:10.1093/hmg/ddz233. ISSN 0964-6906. PMC 7104670. PMID 31600777.

omim.org

"OMIM Entry – # 615722 – Bosch-Boonstra-Schaaf Optic Atrophy Syndrome; BBSOAS". omim.org. Retrieved 19 January 2020.

worldcat.org

search.worldcat.org

Bosch, Daniëlle G.M.; Boonstra, F. Nienke; Gonzaga-Jauregui, Claudia; Xu, Mafei; de Ligt, Joep; Jhangiani, Shalini; Wiszniewski, Wojciech; Muzny, Donna M.; Yntema, Helger G.; Pfundt, Rolph; Vissers, Lisenka E.L.M.; Spruijt, Liesbeth; Blokland, Ellen A.W.; Chen, Chun-An; Lewis, Richard A.; Tsai, Sophia Y.; Gibbs, Richard A.; Tsai, Ming-Jer; Lupski, James R.; Zoghbi, Huda Y.; Cremers, Frans P.M.; de Vries, Bert B.A.; Schaaf, Christian P. (2014). "NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability". The American Journal of Human Genetics. 94 (2). Elsevier BV: 303–309. doi:10.1016/j.ajhg.2014.01.002. ISSN 0002-9297. PMC 3928641. PMID 24462372.
Chen, Chun-An; Bosch, Daniëlle G.M.; Cho, Megan T.; Rosenfeld, Jill A.; Shinawi, Marwan; Lewis, Richard Alan; Mann, John; Jayakar, Parul; Payne, Katelyn; Walsh, Laurence; Moss, Timothy; Schreiber, Allison; Schoonveld, Cheri; Monaghan, Kristin G.; Elmslie, Frances; Douglas, Ganka; Boonstra, F. Nienke; Millan, Francisca; Cremers, Frans P.M.; McKnight, Dianalee; Richard, Gabriele; Juusola, Jane; Kendall, Fran; Ramsey, Keri; Anyane-Yeboa, Kwame; Malkin, Elfrida; Chung, Wendy K.; Niyazov, Dmitriy; Pascual, Juan M.; Walkiewicz, Magdalena; Veluchamy, Vivekanand; Li, Chumei; Hisama, Fuki M.; de Vries, Bert B.A.; Schaaf, Christian (2016). "The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations". Genetics in Medicine. 18 (11). Elsevier BV: 1143–1150. doi:10.1038/gim.2016.18. ISSN 1098-3600.
Chen, Chun-An; Wang, Wei; Pedersen, Steen E; Raman, Ayush; Seymour, Michelle L; Ruiz, Fernanda R; Xia, Anping; van der Heijden, Meike E; Wang, Li; Yin, Jiani; Lopez, Joanna; Rech, Megan E; Lewis, Richard A; Wu, Samuel M; Liu, Zhandong; Pereira, Fred A; Pautler, Robia G; Zoghbi, Huda Y; Schaaf, Christian P (2020-03-27). "Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity". Human Molecular Genetics. 29 (5): 705–715. doi:10.1093/hmg/ddz233. ISSN 0964-6906. PMC 7104670. PMID 31600777.