Wieacker syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Wieacker syndrome" in English language version.

refsWebsite

Global rank English rank

14nih.gov

4^th place

8doi.org

2^nd place

8worldcat.org

5^th place

2rarediseases.org

5,181^st place

3,260^th place

2orpha.net

3,537^th place

7,177^th place

1omim.org

4,380^th place

4,305^th place

1oup.com

485^th place

440^th place

1wiley.com

222^nd place

297^th place

1semanticscholar.org

11^th place

8^th place

doi.org

Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; McMichael, Gai; Hu, Hao; Hambrock, Melanie; Papon, Marie-Amélie; Fischer, Ute; Marouillat, Sylviane; Ding, Can; Alirol, Servane (May 2013). "ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity". The American Journal of Human Genetics. 92 (5): 681–695. doi:10.1016/j.ajhg.2013.03.021. ISSN 0002-9297. PMC 3644645. PMID 23623388.
Hirata, Hiromi; et al. (2013-05-02). "ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity". The American Journal of Human Genetics. 92 (5): 681–695. doi:10.1016/j.ajhg.2013.03.021. ISSN 0002-9297. PMC 3644645. PMID 23623388.
May, Melanie; Hwang, Kyu-Seok; Miles, Judith; Williams, Charlie; Niranjan, Tejasvi; Kahler, Stephen G.; Chiurazzi, Pietro; Steindl, Katharina; Van Der Spek, Peter J.; Swagemakers, Sigrid; Mueller, Jennifer (2015-09-01). "ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons". Human Molecular Genetics. 24 (17): 4848–4861. doi:10.1093/hmg/ddv208. ISSN 0964-6906. PMC 4527488. PMID 26056227.
Miles, Judith H.; Carpenter, Nancy J. (1991). "Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31". American Journal of Medical Genetics. 38 (2–3): 215–223. doi:10.1002/ajmg.1320380209. ISSN 1096-8628. PMID 2018061.
Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; McMichael, Gai; Hu, Hao; Hambrock, Melanie; Papon, Marie-Amélie; Fischer, Ute; Marouillat, Sylviane; Ding, Can; Alirol, Servane (2013-05-02). "ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity". American Journal of Human Genetics. 92 (5): 681–695. doi:10.1016/j.ajhg.2013.03.021. ISSN 1537-6605. PMC 3644645. PMID 23623388.
Hennekam, R. C.; Barth, P. G.; Van Lookeren Campagne, W.; De Visser, M.; Dingemans, K. P. (July 1991). "A family with severe X-linked arthrogryposis". European Journal of Pediatrics. 150 (9): 656–660. doi:10.1007/BF02072628. ISSN 0340-6199. PMID 1915520. S2CID 27658255.
May, Melanie; Hwang, Kyu-Seok; Miles, Judith; Williams, Charlie; Niranjan, Tejasvi; Kahler, Stephen G.; Chiurazzi, Pietro; Steindl, Katharina; Van Der Spek, Peter J.; Swagemakers, Sigrid; Mueller, Jennifer (2015-09-01). "ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons". Human Molecular Genetics. 24 (17): 4848–4861. doi:10.1093/hmg/ddv208. ISSN 1460-2083. PMC 4527488. PMID 26056227.
Frints, Suzanna G. M.; Hennig, Friederike; Colombo, Roberto; Jacquemont, Sebastien; Terhal, Paulien; Zimmerman, Holly H.; Hunt, David; Mendelsohn, Bryce A.; Kordaß, Ulrike; Webster, Richard; Sinnema, Margje (December 2019). "Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita". Human Mutation. 40 (12): 2270–2285. doi:10.1002/humu.23841. ISSN 1098-1004. PMC 6874899. PMID 31206972.

nih.gov

pubmed.ncbi.nlm.nih.gov

Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; McMichael, Gai; Hu, Hao; Hambrock, Melanie; Papon, Marie-Amélie; Fischer, Ute; Marouillat, Sylviane; Ding, Can; Alirol, Servane (May 2013). "ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity". The American Journal of Human Genetics. 92 (5): 681–695. doi:10.1016/j.ajhg.2013.03.021. ISSN 0002-9297. PMC 3644645. PMID 23623388.
Hirata, Hiromi; et al. (2013-05-02). "ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity". The American Journal of Human Genetics. 92 (5): 681–695. doi:10.1016/j.ajhg.2013.03.021. ISSN 0002-9297. PMC 3644645. PMID 23623388.
May, Melanie; Hwang, Kyu-Seok; Miles, Judith; Williams, Charlie; Niranjan, Tejasvi; Kahler, Stephen G.; Chiurazzi, Pietro; Steindl, Katharina; Van Der Spek, Peter J.; Swagemakers, Sigrid; Mueller, Jennifer (2015-09-01). "ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons". Human Molecular Genetics. 24 (17): 4848–4861. doi:10.1093/hmg/ddv208. ISSN 0964-6906. PMC 4527488. PMID 26056227.
Miles, Judith H.; Carpenter, Nancy J. (1991). "Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31". American Journal of Medical Genetics. 38 (2–3): 215–223. doi:10.1002/ajmg.1320380209. ISSN 1096-8628. PMID 2018061.
Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; McMichael, Gai; Hu, Hao; Hambrock, Melanie; Papon, Marie-Amélie; Fischer, Ute; Marouillat, Sylviane; Ding, Can; Alirol, Servane (2013-05-02). "ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity". American Journal of Human Genetics. 92 (5): 681–695. doi:10.1016/j.ajhg.2013.03.021. ISSN 1537-6605. PMC 3644645. PMID 23623388.
Hennekam, R. C.; Barth, P. G.; Van Lookeren Campagne, W.; De Visser, M.; Dingemans, K. P. (July 1991). "A family with severe X-linked arthrogryposis". European Journal of Pediatrics. 150 (9): 656–660. doi:10.1007/BF02072628. ISSN 0340-6199. PMID 1915520. S2CID 27658255.
May, Melanie; Hwang, Kyu-Seok; Miles, Judith; Williams, Charlie; Niranjan, Tejasvi; Kahler, Stephen G.; Chiurazzi, Pietro; Steindl, Katharina; Van Der Spek, Peter J.; Swagemakers, Sigrid; Mueller, Jennifer (2015-09-01). "ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons". Human Molecular Genetics. 24 (17): 4848–4861. doi:10.1093/hmg/ddv208. ISSN 1460-2083. PMC 4527488. PMID 26056227.
Frints, Suzanna G. M.; Hennig, Friederike; Colombo, Roberto; Jacquemont, Sebastien; Terhal, Paulien; Zimmerman, Holly H.; Hunt, David; Mendelsohn, Bryce A.; Kordaß, Ulrike; Webster, Richard; Sinnema, Margje (December 2019). "Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita". Human Mutation. 40 (12): 2270–2285. doi:10.1002/humu.23841. ISSN 1098-1004. PMC 6874899. PMID 31206972.

ncbi.nlm.nih.gov

Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; McMichael, Gai; Hu, Hao; Hambrock, Melanie; Papon, Marie-Amélie; Fischer, Ute; Marouillat, Sylviane; Ding, Can; Alirol, Servane (May 2013). "ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity". The American Journal of Human Genetics. 92 (5): 681–695. doi:10.1016/j.ajhg.2013.03.021. ISSN 0002-9297. PMC 3644645. PMID 23623388.
Hirata, Hiromi; et al. (2013-05-02). "ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity". The American Journal of Human Genetics. 92 (5): 681–695. doi:10.1016/j.ajhg.2013.03.021. ISSN 0002-9297. PMC 3644645. PMID 23623388.
May, Melanie; Hwang, Kyu-Seok; Miles, Judith; Williams, Charlie; Niranjan, Tejasvi; Kahler, Stephen G.; Chiurazzi, Pietro; Steindl, Katharina; Van Der Spek, Peter J.; Swagemakers, Sigrid; Mueller, Jennifer (2015-09-01). "ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons". Human Molecular Genetics. 24 (17): 4848–4861. doi:10.1093/hmg/ddv208. ISSN 0964-6906. PMC 4527488. PMID 26056227.
Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; McMichael, Gai; Hu, Hao; Hambrock, Melanie; Papon, Marie-Amélie; Fischer, Ute; Marouillat, Sylviane; Ding, Can; Alirol, Servane (2013-05-02). "ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity". American Journal of Human Genetics. 92 (5): 681–695. doi:10.1016/j.ajhg.2013.03.021. ISSN 1537-6605. PMC 3644645. PMID 23623388.
May, Melanie; Hwang, Kyu-Seok; Miles, Judith; Williams, Charlie; Niranjan, Tejasvi; Kahler, Stephen G.; Chiurazzi, Pietro; Steindl, Katharina; Van Der Spek, Peter J.; Swagemakers, Sigrid; Mueller, Jennifer (2015-09-01). "ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons". Human Molecular Genetics. 24 (17): 4848–4861. doi:10.1093/hmg/ddv208. ISSN 1460-2083. PMC 4527488. PMID 26056227.
Frints, Suzanna G. M.; Hennig, Friederike; Colombo, Roberto; Jacquemont, Sebastien; Terhal, Paulien; Zimmerman, Holly H.; Hunt, David; Mendelsohn, Bryce A.; Kordaß, Ulrike; Webster, Richard; Sinnema, Margje (December 2019). "Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita". Human Mutation. 40 (12): 2270–2285. doi:10.1002/humu.23841. ISSN 1098-1004. PMC 6874899. PMID 31206972.

omim.org

"OMIM Entry # 314580 - WIEACKER-WOLFF SYNDROME; WRWF". www.omim.org.

orpha.net

RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Intellectual disability developmental delay contractures syndrome". www.orpha.net.{{cite web}}: CS1 maint: numeric names: authors list (link)
RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Wieacker Wolff syndrome". www.orpha.net. Retrieved 2021-04-26.{{cite web}}: CS1 maint: numeric names: authors list (link)

oup.com

academic.oup.com

May, Melanie; Hwang, Kyu-Seok; Miles, Judith; Williams, Charlie; Niranjan, Tejasvi; Kahler, Stephen G.; Chiurazzi, Pietro; Steindl, Katharina; Van Der Spek, Peter J.; Swagemakers, Sigrid; Mueller, Jennifer (2015-09-01). "ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons". Human Molecular Genetics. 24 (17): 4848–4861. doi:10.1093/hmg/ddv208. ISSN 0964-6906. PMC 4527488. PMID 26056227.

rarediseases.org

"Wieacker Syndrome - NORD (National Organization for Rare Disorders)".
"Wieacker Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-04-26.

semanticscholar.org

api.semanticscholar.org

Hennekam, R. C.; Barth, P. G.; Van Lookeren Campagne, W.; De Visser, M.; Dingemans, K. P. (July 1991). "A family with severe X-linked arthrogryposis". European Journal of Pediatrics. 150 (9): 656–660. doi:10.1007/BF02072628. ISSN 0340-6199. PMID 1915520. S2CID 27658255.

wiley.com

onlinelibrary.wiley.com

Miles, Judith H.; Carpenter, Nancy J. (1991). "Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31". American Journal of Medical Genetics. 38 (2–3): 215–223. doi:10.1002/ajmg.1320380209. ISSN 1096-8628. PMID 2018061.

worldcat.org

Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; McMichael, Gai; Hu, Hao; Hambrock, Melanie; Papon, Marie-Amélie; Fischer, Ute; Marouillat, Sylviane; Ding, Can; Alirol, Servane (May 2013). "ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity". The American Journal of Human Genetics. 92 (5): 681–695. doi:10.1016/j.ajhg.2013.03.021. ISSN 0002-9297. PMC 3644645. PMID 23623388.
Hirata, Hiromi; et al. (2013-05-02). "ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity". The American Journal of Human Genetics. 92 (5): 681–695. doi:10.1016/j.ajhg.2013.03.021. ISSN 0002-9297. PMC 3644645. PMID 23623388.
May, Melanie; Hwang, Kyu-Seok; Miles, Judith; Williams, Charlie; Niranjan, Tejasvi; Kahler, Stephen G.; Chiurazzi, Pietro; Steindl, Katharina; Van Der Spek, Peter J.; Swagemakers, Sigrid; Mueller, Jennifer (2015-09-01). "ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons". Human Molecular Genetics. 24 (17): 4848–4861. doi:10.1093/hmg/ddv208. ISSN 0964-6906. PMC 4527488. PMID 26056227.
Miles, Judith H.; Carpenter, Nancy J. (1991). "Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31". American Journal of Medical Genetics. 38 (2–3): 215–223. doi:10.1002/ajmg.1320380209. ISSN 1096-8628. PMID 2018061.
Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; McMichael, Gai; Hu, Hao; Hambrock, Melanie; Papon, Marie-Amélie; Fischer, Ute; Marouillat, Sylviane; Ding, Can; Alirol, Servane (2013-05-02). "ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity". American Journal of Human Genetics. 92 (5): 681–695. doi:10.1016/j.ajhg.2013.03.021. ISSN 1537-6605. PMC 3644645. PMID 23623388.
Hennekam, R. C.; Barth, P. G.; Van Lookeren Campagne, W.; De Visser, M.; Dingemans, K. P. (July 1991). "A family with severe X-linked arthrogryposis". European Journal of Pediatrics. 150 (9): 656–660. doi:10.1007/BF02072628. ISSN 0340-6199. PMID 1915520. S2CID 27658255.
May, Melanie; Hwang, Kyu-Seok; Miles, Judith; Williams, Charlie; Niranjan, Tejasvi; Kahler, Stephen G.; Chiurazzi, Pietro; Steindl, Katharina; Van Der Spek, Peter J.; Swagemakers, Sigrid; Mueller, Jennifer (2015-09-01). "ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons". Human Molecular Genetics. 24 (17): 4848–4861. doi:10.1093/hmg/ddv208. ISSN 1460-2083. PMC 4527488. PMID 26056227.
Frints, Suzanna G. M.; Hennig, Friederike; Colombo, Roberto; Jacquemont, Sebastien; Terhal, Paulien; Zimmerman, Holly H.; Hunt, David; Mendelsohn, Bryce A.; Kordaß, Ulrike; Webster, Richard; Sinnema, Margje (December 2019). "Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita". Human Mutation. 40 (12): 2270–2285. doi:10.1002/humu.23841. ISSN 1098-1004. PMC 6874899. PMID 31206972.