PubMed for id: 98094

Year	Number of Results
1976	4
1977	2
1978	1
1979	2
1980	6
1981	1
1982	5
1983	5
1984	3
1985	2
1986	3
1987	6
1988	6
1989	3
1990	4
1991	4
1992	4
1993	11
1994	7
1995	9
1996	7
1997	4
1998	8
1999	8
2000	8
2001	8
2002	5
2003	7
2004	3
2005	5
2006	4
2007	8
2008	4
2009	8
2010	5
2011	15
2012	19
2013	13
2014	7
2015	16
2016	16
2017	22
2018	19
2019	11
2020	8
2021	19
2022	25
2023	23
2024	8

1

RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.

Marshall AE, MacDonald SK, Liang Y, Couse M; Care4Rare Canada Consortium; Boycott KM, Richer J, Kernohan KD. Marshall AE, et al. Mol Genet Genomic Med. 2023 Oct;11(10):e2247. doi: 10.1002/mgg3.2247. Epub 2023 Jul 24. Mol Genet Genomic Med. 2023. PMID: 37489014 Free PMC article.

2

Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an "ultrasound first" approach.

Fontana P, Agolini E, Cocciadiferro D, Mazzarelli LL, Di Meglio A, Novelli A, Scarano G, Lombardi C, Ciavarella M, Lonardo F. Fontana P, et al. J Matern Fetal Neonatal Med. 2023 Dec;36(1):2205985. doi: 10.1080/14767058.2023.2205985. J Matern Fetal Neonatal Med. 2023. PMID: 37100787 Free article.

3

Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly).

Chen W, Li Y, Zhang J, Yuan Y, Sun D, Yuan J, Yang K, Liang Y, Guo Q. Chen W, et al. Front Genet. 2023 Apr 6;14:1125473. doi: 10.3389/fgene.2023.1125473. eCollection 2023. Front Genet. 2023. PMID: 37091781 Free PMC article.

4

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y, Li S, Yu D. Fang Y, et al. Front Genet. 2023 Mar 17;14:1075187. doi: 10.3389/fgene.2023.1075187. eCollection 2023. Front Genet. 2023. PMID: 37007936 Free PMC article.

5

Understanding the effect of meat electrical conductivity on Pulsed Electric Field (PEF) process parameters and the ability of PEF to enhance the quality and shorten sous vide processing for beef short ribs.

Karki R, Oey I, Bremer P, Silcock P. Karki R, et al. Food Res Int. 2023 Jan;163:112251. doi: 10.1016/j.foodres.2022.112251. Epub 2022 Nov 29. Food Res Int. 2023. PMID: 36596162

6

Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.

Zhao Q, Xu B, Xiang Q, Tan Y, Xie H, Gao Q, Wen L, Wang H, Yang M, Liu S. Zhao Q, et al. Mol Genet Genomic Med. 2023 Mar;11(3):e2124. doi: 10.1002/mgg3.2124. Epub 2022 Dec 20. Mol Genet Genomic Med. 2023. PMID: 36538006 Free PMC article.

7

Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.

Buchh M, Gillespie PJ, Treat K, Abreu MA, Schwantes-An TL, Helm BM, Fang F, Xuei X, Mantcheva L, Suhrie KR, Graham BH, Conboy E, Vetrini F. Buchh M, et al. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006254. doi: 10.1101/mcs.a006254. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36442996 Free PMC article.

8

Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV).

Das S, Sharma C, Gothwal M, Tada N. Das S, et al. BMJ Case Rep. 2022 Sep 19;15(9):e251118. doi: 10.1136/bcr-2022-251118. BMJ Case Rep. 2022. PMID: 36123010

9

[Family analysis of a child with Short-rib polydactyly syndrome type III due to variant of DYNC2H1 gene].

Zhao H, Li L, Liu R, Yang X. Zhao H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Aug 10;39(8):881-883. doi: 10.3760/cma.j.cn511374-20210628-00549. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35929941 Chinese.

10

The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila.

Guleria VS, Parit R, Quadri N, Das R, Upadhyai P. Guleria VS, et al. Exp Cell Res. 2022 Sep 15;418(2):113273. doi: 10.1016/j.yexcr.2022.113273. Epub 2022 Jul 15. Exp Cell Res. 2022. PMID: 35839863

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