CHAMP1-associated intellectual disability syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "CHAMP1-associated intellectual disability syndrome" in English language version.

refsWebsite

Global rank English rank

12nih.gov

4^th place

6doi.org

2^nd place

6worldcat.org

5^th place

1researchgate.net

120^th place

125^th place

1sfari.org

low place

1omim.org

4,380^th place

4,305^th place

1harvard.edu

18^th place

17^th place

1archives-ouvertes.fr

1,031^st place

879^th place

1semanticscholar.org

11^th place

8^th place

1champ1.uk

low place

archives-ouvertes.fr

hal-univ-rennes1.archives-ouvertes.fr

Isidor, Bertrand; Küry, Sébastien; Rosenfeld, Jill A.; Besnard, Thomas; Schmitt, Sébastien; Joss, Shelagh; Davies, Sally J.; Lebel, Robert Roger; Henderson, Alex; Schaaf, Christian P.; Streff, Haley E. (April 2016). "De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability" (PDF). Human Mutation. 37 (4): 354–358. doi:10.1002/humu.22952. ISSN 1098-1004. PMID 26751395. S2CID 24369082.

champ1.uk

"What Is CHAMP1?".

doi.org

Asakura, Yuta; Osaka, Hitoshi; Aoi, Hiromi; Mizuguchi, Takeshi; Matsumoto, Naomichi; Yamagata, Takanori (2021-08-17). "Intellectual disability and microcephaly associated with a novel CHAMP1 mutation". Human Genome Variation. 8 (1): 34. doi:10.1038/s41439-021-00165-7. ISSN 2054-345X. PMC 8371100. PMID 34404773.
Deciphering Developmental Disorders Study (2015-03-12). "Large-scale discovery of novel genetic causes of developmental disorders". Nature. 519 (7542): 223–228. Bibcode:2015Natur.519..223T. doi:10.1038/nature14135. ISSN 1476-4687. PMC 5955210. PMID 25533962.
Hempel, Maja; Cremer, Kirsten; Ockeloen, Charlotte W.; Lichtenbelt, Klaske D.; Herkert, Johanna C.; Denecke, Jonas; Haack, Tobias B.; Zink, Alexander M.; Becker, Jessica; Wohlleber, Eva; Johannsen, Jessika (2015-09-03). "De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment". American Journal of Human Genetics. 97 (3): 493–500. doi:10.1016/j.ajhg.2015.08.003. ISSN 1537-6605. PMC 4564986. PMID 26340335.
Isidor, Bertrand; Küry, Sébastien; Rosenfeld, Jill A.; Besnard, Thomas; Schmitt, Sébastien; Joss, Shelagh; Davies, Sally J.; Lebel, Robert Roger; Henderson, Alex; Schaaf, Christian P.; Streff, Haley E. (April 2016). "De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability" (PDF). Human Mutation. 37 (4): 354–358. doi:10.1002/humu.22952. ISSN 1098-1004. PMID 26751395. S2CID 24369082.
Garrity, Madison; Kavus, Haluk; Rojas-Vasquez, Marta; Valenzuela, Irene; Larson, Austin; Reed, Sara; Bellus, Gary; Mignot, Cyril; Munnich, Arnold; Isidor, Bertrand; Chung, Wendy K. (August 2021). "Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1". Cold Spring Harbor Molecular Case Studies. 7 (4): a006092. doi:10.1101/mcs.a006092. ISSN 2373-2873. PMC 8327885. PMID 34021018.
Levy, Tess; Lerman, Bonnie; Halpern, Danielle; Frank, Yitzchak; Layton, Christina; Zweifach, Jessica; Siper, Paige M.; Buxbaum, Joseph D.; Kolevzon, Alexander (2022-03-11). "CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms". Human Molecular Genetics. 31 (15): 2582–2594. doi:10.1093/hmg/ddac018. ISSN 1460-2083. PMC 9396938. PMID 35271727.

harvard.edu

ui.adsabs.harvard.edu

Deciphering Developmental Disorders Study (2015-03-12). "Large-scale discovery of novel genetic causes of developmental disorders". Nature. 519 (7542): 223–228. Bibcode:2015Natur.519..223T. doi:10.1038/nature14135. ISSN 1476-4687. PMC 5955210. PMID 25533962.

nih.gov

pubmed.ncbi.nlm.nih.gov

Asakura, Yuta; Osaka, Hitoshi; Aoi, Hiromi; Mizuguchi, Takeshi; Matsumoto, Naomichi; Yamagata, Takanori (2021-08-17). "Intellectual disability and microcephaly associated with a novel CHAMP1 mutation". Human Genome Variation. 8 (1): 34. doi:10.1038/s41439-021-00165-7. ISSN 2054-345X. PMC 8371100. PMID 34404773.
Deciphering Developmental Disorders Study (2015-03-12). "Large-scale discovery of novel genetic causes of developmental disorders". Nature. 519 (7542): 223–228. Bibcode:2015Natur.519..223T. doi:10.1038/nature14135. ISSN 1476-4687. PMC 5955210. PMID 25533962.
Hempel, Maja; Cremer, Kirsten; Ockeloen, Charlotte W.; Lichtenbelt, Klaske D.; Herkert, Johanna C.; Denecke, Jonas; Haack, Tobias B.; Zink, Alexander M.; Becker, Jessica; Wohlleber, Eva; Johannsen, Jessika (2015-09-03). "De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment". American Journal of Human Genetics. 97 (3): 493–500. doi:10.1016/j.ajhg.2015.08.003. ISSN 1537-6605. PMC 4564986. PMID 26340335.
Isidor, Bertrand; Küry, Sébastien; Rosenfeld, Jill A.; Besnard, Thomas; Schmitt, Sébastien; Joss, Shelagh; Davies, Sally J.; Lebel, Robert Roger; Henderson, Alex; Schaaf, Christian P.; Streff, Haley E. (April 2016). "De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability" (PDF). Human Mutation. 37 (4): 354–358. doi:10.1002/humu.22952. ISSN 1098-1004. PMID 26751395. S2CID 24369082.
Garrity, Madison; Kavus, Haluk; Rojas-Vasquez, Marta; Valenzuela, Irene; Larson, Austin; Reed, Sara; Bellus, Gary; Mignot, Cyril; Munnich, Arnold; Isidor, Bertrand; Chung, Wendy K. (August 2021). "Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1". Cold Spring Harbor Molecular Case Studies. 7 (4): a006092. doi:10.1101/mcs.a006092. ISSN 2373-2873. PMC 8327885. PMID 34021018.
Levy, Tess; Lerman, Bonnie; Halpern, Danielle; Frank, Yitzchak; Layton, Christina; Zweifach, Jessica; Siper, Paige M.; Buxbaum, Joseph D.; Kolevzon, Alexander (2022-03-11). "CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms". Human Molecular Genetics. 31 (15): 2582–2594. doi:10.1093/hmg/ddac018. ISSN 1460-2083. PMC 9396938. PMID 35271727.

ncbi.nlm.nih.gov

Asakura, Yuta; Osaka, Hitoshi; Aoi, Hiromi; Mizuguchi, Takeshi; Matsumoto, Naomichi; Yamagata, Takanori (2021-08-17). "Intellectual disability and microcephaly associated with a novel CHAMP1 mutation". Human Genome Variation. 8 (1): 34. doi:10.1038/s41439-021-00165-7. ISSN 2054-345X. PMC 8371100. PMID 34404773.
Deciphering Developmental Disorders Study (2015-03-12). "Large-scale discovery of novel genetic causes of developmental disorders". Nature. 519 (7542): 223–228. Bibcode:2015Natur.519..223T. doi:10.1038/nature14135. ISSN 1476-4687. PMC 5955210. PMID 25533962.
Hempel, Maja; Cremer, Kirsten; Ockeloen, Charlotte W.; Lichtenbelt, Klaske D.; Herkert, Johanna C.; Denecke, Jonas; Haack, Tobias B.; Zink, Alexander M.; Becker, Jessica; Wohlleber, Eva; Johannsen, Jessika (2015-09-03). "De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment". American Journal of Human Genetics. 97 (3): 493–500. doi:10.1016/j.ajhg.2015.08.003. ISSN 1537-6605. PMC 4564986. PMID 26340335.
Garrity, Madison; Kavus, Haluk; Rojas-Vasquez, Marta; Valenzuela, Irene; Larson, Austin; Reed, Sara; Bellus, Gary; Mignot, Cyril; Munnich, Arnold; Isidor, Bertrand; Chung, Wendy K. (August 2021). "Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1". Cold Spring Harbor Molecular Case Studies. 7 (4): a006092. doi:10.1101/mcs.a006092. ISSN 2373-2873. PMC 8327885. PMID 34021018.
Levy, Tess; Lerman, Bonnie; Halpern, Danielle; Frank, Yitzchak; Layton, Christina; Zweifach, Jessica; Siper, Paige M.; Buxbaum, Joseph D.; Kolevzon, Alexander (2022-03-11). "CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms". Human Molecular Genetics. 31 (15): 2582–2594. doi:10.1093/hmg/ddac018. ISSN 1460-2083. PMC 9396938. PMID 35271727.

rarediseases.info.nih.gov

"Autosomal dominant intellectual disability 40 - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-24.

omim.org

"OMIM Entry - # 616579 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD". omim.org. Retrieved 2022-06-24.

researchgate.net

Asakura, Yuta; Osaka, Hitoshi; Aoi, Hiromi; Mizuguchi, Takeshi; Matsumoto, Naomichi; Yamagata, Takanori (2021-08-17). "Intellectual disability and microcephaly associated with a novel CHAMP1 mutation". Human Genome Variation. 8 (1): 34. doi:10.1038/s41439-021-00165-7. ISSN 2054-345X. PMC 8371100. PMID 34404773.

semanticscholar.org

api.semanticscholar.org

Isidor, Bertrand; Küry, Sébastien; Rosenfeld, Jill A.; Besnard, Thomas; Schmitt, Sébastien; Joss, Shelagh; Davies, Sally J.; Lebel, Robert Roger; Henderson, Alex; Schaaf, Christian P.; Streff, Haley E. (April 2016). "De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability" (PDF). Human Mutation. 37 (4): 354–358. doi:10.1002/humu.22952. ISSN 1098-1004. PMID 26751395. S2CID 24369082.

sfari.org

gene.sfari.org

"Gene: CHAMP1 -". Retrieved 2022-06-24.

worldcat.org

search.worldcat.org

Asakura, Yuta; Osaka, Hitoshi; Aoi, Hiromi; Mizuguchi, Takeshi; Matsumoto, Naomichi; Yamagata, Takanori (2021-08-17). "Intellectual disability and microcephaly associated with a novel CHAMP1 mutation". Human Genome Variation. 8 (1): 34. doi:10.1038/s41439-021-00165-7. ISSN 2054-345X. PMC 8371100. PMID 34404773.
Deciphering Developmental Disorders Study (2015-03-12). "Large-scale discovery of novel genetic causes of developmental disorders". Nature. 519 (7542): 223–228. Bibcode:2015Natur.519..223T. doi:10.1038/nature14135. ISSN 1476-4687. PMC 5955210. PMID 25533962.
Hempel, Maja; Cremer, Kirsten; Ockeloen, Charlotte W.; Lichtenbelt, Klaske D.; Herkert, Johanna C.; Denecke, Jonas; Haack, Tobias B.; Zink, Alexander M.; Becker, Jessica; Wohlleber, Eva; Johannsen, Jessika (2015-09-03). "De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment". American Journal of Human Genetics. 97 (3): 493–500. doi:10.1016/j.ajhg.2015.08.003. ISSN 1537-6605. PMC 4564986. PMID 26340335.
Isidor, Bertrand; Küry, Sébastien; Rosenfeld, Jill A.; Besnard, Thomas; Schmitt, Sébastien; Joss, Shelagh; Davies, Sally J.; Lebel, Robert Roger; Henderson, Alex; Schaaf, Christian P.; Streff, Haley E. (April 2016). "De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability" (PDF). Human Mutation. 37 (4): 354–358. doi:10.1002/humu.22952. ISSN 1098-1004. PMID 26751395. S2CID 24369082.
Garrity, Madison; Kavus, Haluk; Rojas-Vasquez, Marta; Valenzuela, Irene; Larson, Austin; Reed, Sara; Bellus, Gary; Mignot, Cyril; Munnich, Arnold; Isidor, Bertrand; Chung, Wendy K. (August 2021). "Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1". Cold Spring Harbor Molecular Case Studies. 7 (4): a006092. doi:10.1101/mcs.a006092. ISSN 2373-2873. PMC 8327885. PMID 34021018.
Levy, Tess; Lerman, Bonnie; Halpern, Danielle; Frank, Yitzchak; Layton, Christina; Zweifach, Jessica; Siper, Paige M.; Buxbaum, Joseph D.; Kolevzon, Alexander (2022-03-11). "CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms". Human Molecular Genetics. 31 (15): 2582–2594. doi:10.1093/hmg/ddac018. ISSN 1460-2083. PMC 9396938. PMID 35271727.