PubMed for id: 1622162

Year	Number of Results
1992	1
1995	1
1999	1
2001	1
2007	2
2009	2
2010	4
2011	1
2012	1
2013	2
2014	2
2015	2
2016	4
2017	8
2018	5
2019	9
2020	9
2021	15
2022	7
2023	5

1

A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30.

Ueda K, Araki A, Fujita A, Matsumoto N, Uehara T, Suzuki H, Takenouchi T, Kosaki K, Okamoto N. Ueda K, et al. Hum Genome Var. 2021 Jun 18;8(1):24. doi: 10.1038/s41439-021-00155-9. Hum Genome Var. 2021. PMID: 34145223 Free PMC article.

2

A Novel De Novo Mutation of the DHX30 Gene in a Patient With Neurodevelopmental Disorder, Severe Motor Impairment, and Absent Language (NEDMIAL).

Alomaim MM, Mushiba AM. Alomaim MM, et al. Cureus. 2023 Jan 12;15(1):e33682. doi: 10.7759/cureus.33682. eCollection 2023 Jan. Cureus. 2023. PMID: 36643085 Free PMC article.

3

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.

Thalwitzer KM, Driedger JH, Xian J, Saffari A, Zacher P, Bölsterli BK, Ruggiero SM, Sullivan KR, Datta AN, Kellinghaus C, Althaus J, Wiemer-Kruel A, van Baalen A, Pampel A, Alber M, Braakman HMH, Debus OM, Denecke J, Hobbiebrunken E, Breitweg I, Diehl D, Eitel H, Gburek-Augustat J, Preisel M, Schlump JU, Laufs M, Mammadova D, Wurst C, Prager C, Löhr-Nilles C, Martin P, Garbade SF, Platzer K, Benkel-Herrenbrueck I, Egler K, Fazeli W, Lemke JR, Runkel E, Klein B, Linden T, Schröter J, Steffeck H, Thies B, von Deimling F, Illsinger S, Borggraefe I, Classen G, Wieczorek D, Ramantani G, Koelker S, Hoffmann GF, Ries M, Helbig I, Syrbe S. Thalwitzer KM, et al. Neurology. 2023 Aug 29;101(9):e879-e891. doi: 10.1212/WNL.0000000000207550. Epub 2023 Jul 5. Neurology. 2023. PMID: 37407264

4

Brain and eye involvement in McCune-Albright Syndrome: clinical and translational insights.

Mascioli I, Iapadre G, Ingrosso D, Donato GD, Giannini C, Salpietro V, Chiarelli F, Farello G. Mascioli I, et al. Front Endocrinol (Lausanne). 2023 May 19;14:1092252. doi: 10.3389/fendo.2023.1092252. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37274327 Free PMC article. Review.

5

DHX30-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review.

Park EG, Seo GH, Yang A. Park EG, et al. Ann Clin Lab Sci. 2023 Mar;53(2):325-333. Ann Clin Lab Sci. 2023. PMID: 37094863 Review.

6

Language and Communication Deficits in Chromosome 16p11.2 Deletion Syndrome.

Jiménez-Romero MS, Fernández-Urquiza M, Benítez-Burraco A. Jiménez-Romero MS, et al. J Speech Lang Hear Res. 2022 Dec 12;65(12):4724-4740. doi: 10.1044/2022_JSLHR-22-00160. Epub 2022 Nov 21. J Speech Lang Hear Res. 2022. PMID: 36410413

7

A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.

Dai W, Sun Y, Fan Y, Gao Y, Zhan Y, Wang L, Xiao B, Qiu W, Gu X, Sun K, Yu Y, Xu N. Dai W, et al. Eur J Hum Genet. 2023 Jan;31(1):112-121. doi: 10.1038/s41431-022-01217-4. Epub 2022 Nov 14. Eur J Hum Genet. 2023. PMID: 36376392

8

Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.

Miroševič Š, Khandelwal S, Sušjan P, Žakelj N, Gosar D, Forstnerič V, Lainšček D, Jerala R, Osredkar D. Miroševič Š, et al. Int J Mol Sci. 2022 Oct 19;23(20):12564. doi: 10.3390/ijms232012564. Int J Mol Sci. 2022. PMID: 36293418 Free PMC article. Review.

9

Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory cortices.

Bruce L, Peter B. Bruce L, et al. Am J Med Genet A. 2022 Dec;188(12):3401-3415. doi: 10.1002/ajmg.a.62904. Epub 2022 Jul 20. Am J Med Genet A. 2022. PMID: 35856171

10

Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.

Fry D, Groepper D, MacCarrick G, Demo EM, Thomas MJ, Wilkes MJ, Lyons MJ, Tucker ME, Steding C, Fleischer J. Fry D, et al. Am J Med Genet A. 2022 Jul;188(7):2237-2241. doi: 10.1002/ajmg.a.62758. Epub 2022 Apr 15. Am J Med Genet A. 2022. PMID: 35426477

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