SYNGAP1-related intellectual disability (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "SYNGAP1-related intellectual disability" in English language version.

refsWebsite

Global rank English rank

32nih.gov

4^th place

16doi.org

2^nd place

5semanticscholar.org

11^th place

8^th place

2rarediseases.org

5,181^st place

3,260^th place

2harvard.edu

18^th place

17^th place

1epilepsy.com

low place

1kennedykrieger.org

low place

1childneurologyfoundation.org

low place

1sorbonne-universite.fr

low place

1simonssearchlight.org

low place

1chop.edu

low place

1medlineplus.gov

1,581^st place

1,299^th place

childneurologyfoundation.org

"SYNGAP1-Related Disorder". Child Neurology Foundation. Retrieved 2022-12-30.

chop.edu

Philadelphia, The Children's Hospital of (2020-05-12). "SYNGAP1-Related Disorders". www.chop.edu. Retrieved 2021-07-04.

doi.org

Jeyabalan N, Clement JP (2016). "SYNGAP1: Mind the Gap". Frontiers in Cellular Neuroscience. 10: 32. doi:10.3389/fncel.2016.00032. PMC 4753466. PMID 26912996.
Vlaskamp DR, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, et al. (January 2019). "SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy". Neurology. 92 (2): e96–e107. doi:10.1212/WNL.0000000000006729. PMC 6340340. PMID 30541864.
Wright D, Kenny A, Eley S, McKechanie AG, Stanfield AC (June 2022). "Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description". Journal of Neurodevelopmental Disorders. 14 (1): 34. doi:10.1186/s11689-022-09437-x. PMC 9164368. PMID 35655128.
Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, et al. (August 2016). "Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy" (PDF). Journal of Medical Genetics. 53 (8): 511–522. doi:10.1136/jmedgenet-2015-103451. PMID 26989088. S2CID 40830735.
Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, et al. (February 2013). "Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency". Human Mutation. 34 (2): 385–394. doi:10.1002/humu.22248. PMID 23161826. S2CID 11397001.
von Stülpnagel C, Hartlieb T, Borggräfe I, Coppola A, Gennaro E, Eschermann K, et al. (February 2019). "Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases". Seizure. 65: 131–137. doi:10.1016/j.seizure.2018.12.020. PMID 30685520. S2CID 56595032.
Parker MJ, Fryer AE, Shears DJ, Lachlan KL, McKee SA, Magee AC, et al. (October 2015). "De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability". American Journal of Medical Genetics. Part A. 167A (10): 2231–2237. doi:10.1002/ajmg.a.37189. PMC 4744742. PMID 26079862.
Fitzgerald TW, Gerety SS, Jones WD, Van Kogelenberg M, King DA, McRae J, et al. (Deciphering Developmental Disorders Study) (March 2015). "Large-scale discovery of novel genetic causes of developmental disorders". Nature. 519 (7542): 223–228. Bibcode:2015Natur.519..223T. doi:10.1038/nature14135. PMC 5955210. PMID 25533962.
Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, et al. (July 2013). "Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1". Nature Genetics. 45 (7): 825–830. doi:10.1038/ng.2646. PMC 3704157. PMID 23708187.
Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka S, Krebs MO, et al. (May 2011). "De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism". Biological Psychiatry. Genes, Autism, and Associated Phenotypes. 69 (9): 898–901. doi:10.1016/j.biopsych.2010.11.015. PMID 21237447. S2CID 11318735.
Krupp DR, Barnard RA, Duffourd Y, Evans SA, Mulqueen RM, Bernier R, et al. (September 2017). "Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder". American Journal of Human Genetics. 101 (3): 369–390. doi:10.1016/j.ajhg.2017.07.016. PMC 5590950. PMID 28867142.
López-Rivera JA, Pérez-Palma E, Symonds J, Lindy AS, McKnight DA, Leu C, et al. (April 2020). "A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants". Brain. 143 (4): 1099–1105. doi:10.1093/brain/awaa051. PMC 7174049. PMID 32168371.
Gamache TR, Araki Y, Huganir RL (February 2020). "Twenty Years of SynGAP Research: From Synapses to Cognition". The Journal of Neuroscience. 40 (8): 1596–1605. doi:10.1523/JNEUROSCI.0420-19.2020. PMC 7046327. PMID 32075947.
Hamdan FF, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S, et al. (February 2009). "Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation". The New England Journal of Medicine. 360 (6): 599–605. doi:10.1056/NEJMoa0805392. PMC 2925262. PMID 19196676.
Lim KH, Han Z, Jeon HY, Kach J, Jing E, Weyn-Vanhentenryck S, et al. (July 2020). "Antisense oligonucleotide modulation of non-productive alternative splicing upregulates gene expression". Nature Communications. 11 (1): 3501. Bibcode:2020NatCo..11.3501L. doi:10.1038/s41467-020-17093-9. PMC 7347940. PMID 32647108.
Kluger G, von Stülpnagel-Steinbeis C, Arnold S, Eschermann K, Hartlieb T (August 2019). "Positive Short-Term Effect of Low-Dose Rosuvastatin in a Patient with SYNGAP1-Associated Epilepsy". Neuropediatrics. 50 (4): 266–267. doi:10.1055/s-0039-1681066. PMID 30875700. S2CID 80619705.

epilepsy.com

"SYNGAP1-Related Epilepsy". Epilepsy Foundation. Retrieved 2021-12-29.

harvard.edu

ui.adsabs.harvard.edu

Fitzgerald TW, Gerety SS, Jones WD, Van Kogelenberg M, King DA, McRae J, et al. (Deciphering Developmental Disorders Study) (March 2015). "Large-scale discovery of novel genetic causes of developmental disorders". Nature. 519 (7542): 223–228. Bibcode:2015Natur.519..223T. doi:10.1038/nature14135. PMC 5955210. PMID 25533962.
Lim KH, Han Z, Jeon HY, Kach J, Jing E, Weyn-Vanhentenryck S, et al. (July 2020). "Antisense oligonucleotide modulation of non-productive alternative splicing upregulates gene expression". Nature Communications. 11 (1): 3501. Bibcode:2020NatCo..11.3501L. doi:10.1038/s41467-020-17093-9. PMC 7347940. PMID 32647108.

kennedykrieger.org

"SYNGAP1 Gene Mutation". www.kennedykrieger.org. Retrieved 2021-12-29.

medlineplus.gov

"SYNGAP1-related intellectual disability: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-12-30.

nih.gov

pubmed.ncbi.nlm.nih.gov

Jeyabalan N, Clement JP (2016). "SYNGAP1: Mind the Gap". Frontiers in Cellular Neuroscience. 10: 32. doi:10.3389/fncel.2016.00032. PMC 4753466. PMID 26912996.
Holder JL, Hamdan FF, Michaud JL (21 February 2019). "SYNGAP1-Related Intellectual Disability". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Mirzaa G, Amemiya A (eds.). GeneReviews® (Review). Seattle (WA): University of Washington, Seattle. PMID 30789692. Bookshelf ID NBK537721. Retrieved 2 April 2024 – via National Library of Medicine.
Vlaskamp DR, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, et al. (January 2019). "SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy". Neurology. 92 (2): e96–e107. doi:10.1212/WNL.0000000000006729. PMC 6340340. PMID 30541864.
Wright D, Kenny A, Eley S, McKechanie AG, Stanfield AC (June 2022). "Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description". Journal of Neurodevelopmental Disorders. 14 (1): 34. doi:10.1186/s11689-022-09437-x. PMC 9164368. PMID 35655128.
Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, et al. (August 2016). "Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy" (PDF). Journal of Medical Genetics. 53 (8): 511–522. doi:10.1136/jmedgenet-2015-103451. PMID 26989088. S2CID 40830735.
Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, et al. (February 2013). "Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency". Human Mutation. 34 (2): 385–394. doi:10.1002/humu.22248. PMID 23161826. S2CID 11397001.
von Stülpnagel C, Hartlieb T, Borggräfe I, Coppola A, Gennaro E, Eschermann K, et al. (February 2019). "Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases". Seizure. 65: 131–137. doi:10.1016/j.seizure.2018.12.020. PMID 30685520. S2CID 56595032.
Parker MJ, Fryer AE, Shears DJ, Lachlan KL, McKee SA, Magee AC, et al. (October 2015). "De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability". American Journal of Medical Genetics. Part A. 167A (10): 2231–2237. doi:10.1002/ajmg.a.37189. PMC 4744742. PMID 26079862.
Fitzgerald TW, Gerety SS, Jones WD, Van Kogelenberg M, King DA, McRae J, et al. (Deciphering Developmental Disorders Study) (March 2015). "Large-scale discovery of novel genetic causes of developmental disorders". Nature. 519 (7542): 223–228. Bibcode:2015Natur.519..223T. doi:10.1038/nature14135. PMC 5955210. PMID 25533962.
Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, et al. (July 2013). "Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1". Nature Genetics. 45 (7): 825–830. doi:10.1038/ng.2646. PMC 3704157. PMID 23708187.
Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka S, Krebs MO, et al. (May 2011). "De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism". Biological Psychiatry. Genes, Autism, and Associated Phenotypes. 69 (9): 898–901. doi:10.1016/j.biopsych.2010.11.015. PMID 21237447. S2CID 11318735.
Krupp DR, Barnard RA, Duffourd Y, Evans SA, Mulqueen RM, Bernier R, et al. (September 2017). "Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder". American Journal of Human Genetics. 101 (3): 369–390. doi:10.1016/j.ajhg.2017.07.016. PMC 5590950. PMID 28867142.
López-Rivera JA, Pérez-Palma E, Symonds J, Lindy AS, McKnight DA, Leu C, et al. (April 2020). "A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants". Brain. 143 (4): 1099–1105. doi:10.1093/brain/awaa051. PMC 7174049. PMID 32168371.
Gamache TR, Araki Y, Huganir RL (February 2020). "Twenty Years of SynGAP Research: From Synapses to Cognition". The Journal of Neuroscience. 40 (8): 1596–1605. doi:10.1523/JNEUROSCI.0420-19.2020. PMC 7046327. PMID 32075947.
Hamdan FF, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S, et al. (February 2009). "Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation". The New England Journal of Medicine. 360 (6): 599–605. doi:10.1056/NEJMoa0805392. PMC 2925262. PMID 19196676.
Lim KH, Han Z, Jeon HY, Kach J, Jing E, Weyn-Vanhentenryck S, et al. (July 2020). "Antisense oligonucleotide modulation of non-productive alternative splicing upregulates gene expression". Nature Communications. 11 (1): 3501. Bibcode:2020NatCo..11.3501L. doi:10.1038/s41467-020-17093-9. PMC 7347940. PMID 32647108.
Kluger G, von Stülpnagel-Steinbeis C, Arnold S, Eschermann K, Hartlieb T (August 2019). "Positive Short-Term Effect of Low-Dose Rosuvastatin in a Patient with SYNGAP1-Associated Epilepsy". Neuropediatrics. 50 (4): 266–267. doi:10.1055/s-0039-1681066. PMID 30875700. S2CID 80619705.

ncbi.nlm.nih.gov

Jeyabalan N, Clement JP (2016). "SYNGAP1: Mind the Gap". Frontiers in Cellular Neuroscience. 10: 32. doi:10.3389/fncel.2016.00032. PMC 4753466. PMID 26912996.
Holder JL, Hamdan FF, Michaud JL (21 February 2019). "SYNGAP1-Related Intellectual Disability". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Mirzaa G, Amemiya A (eds.). GeneReviews® (Review). Seattle (WA): University of Washington, Seattle. PMID 30789692. Bookshelf ID NBK537721. Retrieved 2 April 2024 – via National Library of Medicine.
Vlaskamp DR, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, et al. (January 2019). "SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy". Neurology. 92 (2): e96–e107. doi:10.1212/WNL.0000000000006729. PMC 6340340. PMID 30541864.
Wright D, Kenny A, Eley S, McKechanie AG, Stanfield AC (June 2022). "Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description". Journal of Neurodevelopmental Disorders. 14 (1): 34. doi:10.1186/s11689-022-09437-x. PMC 9164368. PMID 35655128.
"Intellectual disability, autosomal dominant 5 - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-12-30.
Parker MJ, Fryer AE, Shears DJ, Lachlan KL, McKee SA, Magee AC, et al. (October 2015). "De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability". American Journal of Medical Genetics. Part A. 167A (10): 2231–2237. doi:10.1002/ajmg.a.37189. PMC 4744742. PMID 26079862.
Fitzgerald TW, Gerety SS, Jones WD, Van Kogelenberg M, King DA, McRae J, et al. (Deciphering Developmental Disorders Study) (March 2015). "Large-scale discovery of novel genetic causes of developmental disorders". Nature. 519 (7542): 223–228. Bibcode:2015Natur.519..223T. doi:10.1038/nature14135. PMC 5955210. PMID 25533962.
Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, et al. (July 2013). "Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1". Nature Genetics. 45 (7): 825–830. doi:10.1038/ng.2646. PMC 3704157. PMID 23708187.
Krupp DR, Barnard RA, Duffourd Y, Evans SA, Mulqueen RM, Bernier R, et al. (September 2017). "Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder". American Journal of Human Genetics. 101 (3): 369–390. doi:10.1016/j.ajhg.2017.07.016. PMC 5590950. PMID 28867142.
López-Rivera JA, Pérez-Palma E, Symonds J, Lindy AS, McKnight DA, Leu C, et al. (April 2020). "A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants". Brain. 143 (4): 1099–1105. doi:10.1093/brain/awaa051. PMC 7174049. PMID 32168371.
Gamache TR, Araki Y, Huganir RL (February 2020). "Twenty Years of SynGAP Research: From Synapses to Cognition". The Journal of Neuroscience. 40 (8): 1596–1605. doi:10.1523/JNEUROSCI.0420-19.2020. PMC 7046327. PMID 32075947.
Hamdan FF, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S, et al. (February 2009). "Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation". The New England Journal of Medicine. 360 (6): 599–605. doi:10.1056/NEJMoa0805392. PMC 2925262. PMID 19196676.
Lim KH, Han Z, Jeon HY, Kach J, Jing E, Weyn-Vanhentenryck S, et al. (July 2020). "Antisense oligonucleotide modulation of non-productive alternative splicing upregulates gene expression". Nature Communications. 11 (1): 3501. Bibcode:2020NatCo..11.3501L. doi:10.1038/s41467-020-17093-9. PMC 7347940. PMID 32647108.

rarediseases.info.nih.gov

"SYNGAP1-related non-syndromic intellectual disability - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-12-30.

ghr.nlm.nih.gov

"SYNGAP1-related intellectual disability". MedlinePlus. US National Library of Medicine. 4 August 2020. Retrieved 9 August 2020.

rarediseases.org

"SYNGAP1-related NSID". NORD (National Organization for Rare Disorders). Retrieved 2022-12-30.
"SYNGAP1-related NSID". NORD (National Organization for Rare Disorders). Retrieved 2020-07-24.

semanticscholar.org

api.semanticscholar.org

Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, et al. (August 2016). "Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy" (PDF). Journal of Medical Genetics. 53 (8): 511–522. doi:10.1136/jmedgenet-2015-103451. PMID 26989088. S2CID 40830735.
Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, et al. (February 2013). "Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency". Human Mutation. 34 (2): 385–394. doi:10.1002/humu.22248. PMID 23161826. S2CID 11397001.
von Stülpnagel C, Hartlieb T, Borggräfe I, Coppola A, Gennaro E, Eschermann K, et al. (February 2019). "Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases". Seizure. 65: 131–137. doi:10.1016/j.seizure.2018.12.020. PMID 30685520. S2CID 56595032.
Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka S, Krebs MO, et al. (May 2011). "De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism". Biological Psychiatry. Genes, Autism, and Associated Phenotypes. 69 (9): 898–901. doi:10.1016/j.biopsych.2010.11.015. PMID 21237447. S2CID 11318735.
Kluger G, von Stülpnagel-Steinbeis C, Arnold S, Eschermann K, Hartlieb T (August 2019). "Positive Short-Term Effect of Low-Dose Rosuvastatin in a Patient with SYNGAP1-Associated Epilepsy". Neuropediatrics. 50 (4): 266–267. doi:10.1055/s-0039-1681066. PMID 30875700. S2CID 80619705.

simonssearchlight.org

"Simons Searchlight | SYNGAP1". www.simonssearchlight.org. Retrieved 2021-07-04.

sorbonne-universite.fr

hal.sorbonne-universite.fr

Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, et al. (August 2016). "Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy" (PDF). Journal of Medical Genetics. 53 (8): 511–522. doi:10.1136/jmedgenet-2015-103451. PMID 26989088. S2CID 40830735.