PubMed for id: 500807

Year	Number of Results
1975	1
1976	1
1977	2
1980	3
1981	2
1982	1
1985	1
1986	1
1987	3
1988	1
1989	3
1990	3
1991	1
1992	3
1993	2
1994	6
1995	1
1996	4
1997	3
1998	3
1999	3
2000	5
2001	8
2002	11
2003	4
2004	8
2005	6
2006	5
2007	5
2008	7
2009	10
2010	13
2011	18
2012	20
2013	13
2014	12
2015	25
2016	18
2017	16
2018	17
2019	14
2020	22
2021	19
2022	20
2023	30
2024	5

1

De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.

Sundaramurthi JC, Bagley AM, Blau H, Carmody L, Crandall A, Danis D, Gargano MA, Gustafson AG, Raney EM, Shingle M, Davids JR, Robinson PN. Sundaramurthi JC, et al. Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4):a006293. doi: 10.1101/mcs.a006293. Print 2023 Dec. Cold Spring Harb Mol Case Stud. 2024. PMID: 37684057 Free PMC article.

2

Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care.

Levine AD, Chung WK. Levine AD, et al. Cold Spring Harb Mol Case Stud. 2023 Jul 11;9(3):a006285. doi: 10.1101/mcs.a006285. Print 2023 Jun. Cold Spring Harb Mol Case Stud. 2023. PMID: 37339871 Free PMC article.

3

Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene.

Chograni M, Alahdal HM, Rejili M. Chograni M, et al. Hum Genomics. 2023 May 13;17(1):41. doi: 10.1186/s40246-023-00492-6. Hum Genomics. 2023. PMID: 37179318 Free PMC article.

4

Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review.

Yu C, Lyn N, Li D, Mei S, Liu L, Shang Q. Yu C, et al. Eur J Med Genet. 2023 Jan;66(1):104675. doi: 10.1016/j.ejmg.2022.104675. Epub 2022 Nov 30. Eur J Med Genet. 2023. PMID: 36460282 Review.

5

Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.

Hunter JM, Massingham LJ, Manickam K, Bartholomew D, Williamson RK, Schwab JL, Marhabaie M, Siemon A, de Los Reyes E, Reshmi SC, Cottrell CE, Wilson RK, Koboldt DC. Hunter JM, et al. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006180. doi: 10.1101/mcs.a006180. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35091509 Free PMC article.

6

GNAO1 mutation-related severe involuntary movements treated with gabapentin.

Akasaka M, Kamei A, Tanifuji S, Asami M, Ito J, Mizuma K, Oyama K, Tokutomi T, Yamamoto K, Fukushima A, Takenouchi T, Uehara T, Suzuki H, Kosaki K. Akasaka M, et al. Brain Dev. 2021 Apr;43(4):576-579. doi: 10.1016/j.braindev.2020.12.002. Epub 2020 Dec 23. Brain Dev. 2021. PMID: 33358199

7

SLC6A1 G443D associated with developmental delay and epilepsy.

Devries S, Mulder M, Charron JG, Prokop JW, Mark PR. Devries S, et al. Cold Spring Harb Mol Case Stud. 2020 Aug 25;6(4):a005371. doi: 10.1101/mcs.a005371. Print 2020 Aug. Cold Spring Harb Mol Case Stud. 2020. PMID: 32660967 Free PMC article.

8

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.

Lyon GJ, Marchi E, Ekstein J, Meiner V, Hirsch Y, Scher S, Yang E, De Vivo DC, Madrid R, Li Q, Wang K, Haworth A, Chilton I, Chung WK, Velinov M. Lyon GJ, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a003715. doi: 10.1101/mcs.a003715. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31387860 Free PMC article.

9

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay.

Okur V, LeDuc CA, Guzman E, Valivullah ZM, Anyane-Yeboa K, Chung WK. Okur V, et al. Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3):a004101. doi: 10.1101/mcs.a004101. Print 2019 Jun. Cold Spring Harb Mol Case Stud. 2019. PMID: 31010896 Free PMC article.

10

Early-onset infant epileptic encephalopathy associated with a de novo PPP3CA gene mutation.

Qian Y, Wu B, Lu Y, Dong X, Qin Q, Zhou W, Wang H. Qian Y, et al. Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a002949. doi: 10.1101/mcs.a002949. Print 2018 Dec. Cold Spring Harb Mol Case Stud. 2018. PMID: 30455226 Free PMC article.

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