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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 2
1995 1
1996 2
1997 2
1998 1
1999 2
2000 4
2001 6
2002 2
2003 1
2004 2
2005 11
2006 6
2007 4
2008 11
2009 10
2010 14
2011 24
2012 14
2013 23
2014 24
2015 25
2016 21
2017 22
2018 29
2019 35
2020 49
2021 62
2022 47
2023 53
2024 17

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437 results

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Page 1
Mental health problems in children with intellectual disability.
Totsika V, Liew A, Absoud M, Adnams C, Emerson E. Totsika V, et al. Lancet Child Adolesc Health. 2022 Jun;6(6):432-444. doi: 10.1016/S2352-4642(22)00067-0. Epub 2022 Apr 11. Lancet Child Adolesc Health. 2022. PMID: 35421380 Review.
Intellectual disability ranks in the top ten causes of disease burden globally and is the top cause in children younger than 5 years. 2-3% of children have an intellectual disability, and about 15% of children present with differences consistent with an intellectual disability (i …
Intellectual disability ranks in the top ten causes of disease burden globally and is the top cause in children younger than 5 years. 2-3% o …
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.
Symonds JD, Elliott KS, Shetty J, Armstrong M, Brunklaus A, Cutcutache I, Diver LA, Dorris L, Gardiner S, Jollands A, Joss S, Kirkpatrick M, McLellan A, MacLeod S, O'Regan M, Page M, Pilley E, Pilz DT, Stephen E, Stewart K, Ashrafian H, Knight JC, Zuberi SM. Symonds JD, et al. Brain. 2021 Oct 22;144(9):2879-2891. doi: 10.1093/brain/awab162. Brain. 2021. PMID: 34687210 Free PMC article.
Twenty-four months after presentation, 36% of children had drug-resistant epilepsy (DRE), and 49% had global developmental delay (GDD). Identification of an aetiology was the strongest determinant of both DRE and GDD. ...
Twenty-four months after presentation, 36% of children had drug-resistant epilepsy (DRE), and 49% had global developmental …
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.
RESULTS: The clinical picture was predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, and attention deficit-hyperactivity disorder, all of which point to a brain disorder. ...
RESULTS: The clinical picture was predominated by early onset global developmental delay, intellectual disability, auti …
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, Christod… See abstract for full author list ➔ Stephenson SEM, et al. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
We used a genotype-first approach and global data-sharing platforms to identify 35 individuals harboring de novo and inherited FBXW7 germline monoallelic chromosomal deletions and nonsense, frameshift, splice-site, and missense variants associated with a neurodevelopmental syndro …
We used a genotype-first approach and global data-sharing platforms to identify 35 individuals harboring de novo and inherited FBXW7 germlin …
Diagnosis and Management of Global Development Delay: Consensus Guidelines of Growth, Development and Behavioral Pediatrics Chapter, Neurology Chapter and Neurodevelopment Pediatrics Chapter of the Indian Academy of Pediatrics.
Juneja M, Gupta A, Sairam S, Jain R, Sharma M, Thadani A, Srinivasan R, Lingappa L, Ahmed S, Multani KS, Buch P, Chatterjee N, Dalwai S, Kabra M, Kapoor S, Patel PK, Girisha KM, Kulkarni M, Kunju PAM, Malhi P, Meenai Z, Mishra D, Mundkur N, Nair MKC, Oommen SP, Prasad C, Singh A, Srivastava L, Suman P, Thakur R. Juneja M, et al. Indian Pediatr. 2022 May 15;59(5):401-415. Epub 2022 Feb 19. Indian Pediatr. 2022. PMID: 35188106 Free article.
JUSTIFICATION: Global developmental delay (GDD) is a relatively common neurodevelopmental disorder; however, paucity of published literature and absence of uniform guidelines increases the complexity of clinical management of this condition. ...
JUSTIFICATION: Global developmental delay (GDD) is a relatively common neurodevelopmental disorder; however, paucity of …
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, Firth HV, Frazier T, Hansen RL, Prock L, Brunner H, Hoang N, Scherer SW, Sahin M, Miller DT; NDD Exome Scoping Review Work Group. Srivastava S, et al. Genet Med. 2019 Nov;21(11):2413-2421. doi: 10.1038/s41436-019-0554-6. Epub 2019 Jun 11. Genet Med. 2019. PMID: 31182824 Free PMC article.
METHODS: We performed a PubMed scoping review and meta-analysis investigating the diagnostic yield of ES for NDDs as the basis of a consensus development conference. We defined NDD as global developmental delay, intellectual disability, and/or autism spectrum …
METHODS: We performed a PubMed scoping review and meta-analysis investigating the diagnostic yield of ES for NDDs as the basis of a consensu …
SETD1B-associated neurodevelopmental disorder.
Roston A, Evans D, Gill H, McKinnon M, Isidor B, Cogné B, Mwenifumbo J, van Karnebeek C, An J, Jones SJM, Farrer M, Demos M, Connolly M, Gibson WT; CAUSES Study; EPGEN Study. Roston A, et al. J Med Genet. 2021 Mar;58(3):196-204. doi: 10.1136/jmedgenet-2019-106756. Epub 2020 Jun 16. J Med Genet. 2021. PMID: 32546566
Previous reports of patients with rare variants in SETD1B describe a distinctive phenotype that includes seizures, global developmental delay and intellectual disability. METHODS: Two of the patients described herein were identified via genome-wide and exome- …
Previous reports of patients with rare variants in SETD1B describe a distinctive phenotype that includes seizures, global developm …
Dermatological findings in Rubinstein-Taybi Syndrome.
Cammarata-Scalisi F, Diociaiuti A, Cárdenas Tadich A, Sandoval X, Oranges T, Filippeschi C, Araya Castillo M, Willoughby CE, Cerri A, Gervasini C, Callea M. Cammarata-Scalisi F, et al. Ital J Dermatol Venerol. 2023 Aug;158(4):316-320. doi: 10.23736/S2784-8671.23.07547-3. Epub 2023 Jun 7. Ital J Dermatol Venerol. 2023. PMID: 37282850 Free article. Review.
These genes encode two highly evolutionarily conserved, ubiquitously expressed, and homologous lysine-acetyltransferases, that are involved in number of basic cellular activities, such as DNA repair, cell proliferation, growth, differentiation, apoptosis of cells, and tumor suppr …
These genes encode two highly evolutionarily conserved, ubiquitously expressed, and homologous lysine-acetyltransferases, that are involved …
Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.
Nickels K, Kossoff EH, Eschbach K, Joshi C. Nickels K, et al. Epilepsia. 2021 Jan;62(1):120-127. doi: 10.1111/epi.16752. Epub 2020 Nov 14. Epilepsia. 2021. PMID: 33190223
METHODS: Authors performed a retrospective chart review of patients with EMAS who received care at the authors' institutions. RESULTS: A total of 166 children were identified. Global developmental delay (>1 domain) was present in 2% of children at onset an …
METHODS: Authors performed a retrospective chart review of patients with EMAS who received care at the authors' institutions. RESULTS: A tot …
437 results