PubMed for id: 343051

Year	Number of Results
1973	1
1975	8
1976	1
1977	1
1978	5
1979	7
1980	4
1981	4
1982	2
1983	3
1984	4
1985	1
1986	2
1987	5
1988	3
1989	4
1990	2
1991	4
1993	8
1994	3
1995	7
1996	11
1997	9
1998	4
1999	4
2000	10
2001	2
2002	6
2003	8
2004	9
2005	4
2006	4
2007	8
2008	14
2009	3
2010	8
2011	6
2012	10
2013	4
2014	4
2015	6
2016	8
2017	11
2018	8
2019	7
2020	7
2021	13
2022	14
2023	8
2024	0

1

Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys.

Hettiarachchi D, Subasinghe SMV, Anandagoda GG, Panchal H, Lai PS, Dissanayake VHW. Hettiarachchi D, et al. BMC Med Genomics. 2022 Apr 14;15(1):82. doi: 10.1186/s12920-022-01226-8. BMC Med Genomics. 2022. PMID: 35422036 Free PMC article.

2

Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.

Forsyth R, Parisi MA, Altintas B, Malicdan MC, Vilboux T, Knoll J, Brooks BP, Zein WM, Gahl WA, Toro C, Gunay-Aygun M. Forsyth R, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):121-130. doi: 10.1002/ajmg.c.31966. Epub 2022 Mar 21. Am J Med Genet C Semin Med Genet. 2022. PMID: 35312150 Free PMC article.

3

A very rare case of a newborn with tetrasomy 9p and literature review.

Süleyman M, Oğuz S, Kaykı G, Çelik HT, Şimsek-Kiper PÖ, Utine GE, Yiğit Ş. Süleyman M, et al. Turk J Pediatr. 2022;64(1):171-178. doi: 10.24953/turkjped.2021.685. Turk J Pediatr. 2022. PMID: 35286047 Free article. Review.

4

Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.

Bae S, Yang A, Kim J, Lee HJ, Park HK. Bae S, et al. BMC Med Genomics. 2021 Dec 20;14(1):297. doi: 10.1186/s12920-021-01148-x. BMC Med Genomics. 2021. PMID: 34930245 Free PMC article. Review.

5

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.

Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, Rabin R, Pappas J, Renaud DL, Hauser N, Reid E, Blanchet P, Foulds N, Dixit A, Fisher R, Armstrong R, Isidor B, Cogne B, Schrier Vergano S, Demirdas S, Dykzeul N, Cohen JS, Grand K, Morel D, Slavotinek A, Albassam HF, Naik S, Dean J, Ragge N, Costa C, Tedesco MG, Harrison RE, Bouman A, Palen E, Challman TD, Willemsen MH, Vogt J, Cunniff C, Bergstrom K, Walia JS, Bruel AL, Kini U, Alkuraya FS, Slegesky V, Meeks N, Girotto P, Johnson D; DDD Study; Newbury-Ecob R, Ockeloen CW, Prontera P, Lynch SA, Li D, Graham JM Jr, Pierson TM, Balasubramanian M. Schirwani S, et al. Am J Med Genet A. 2021 Nov;185(11):3446-3458. doi: 10.1002/ajmg.a.62465. Epub 2021 Aug 26. Am J Med Genet A. 2021. PMID: 34436830 Free article.

6

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.

Yi S, Zhang Y, Qin Z, Yi S, Zheng H, Luo J, Li Q, Wang J, Yang Q, Li M, Chen F, Zhang Q, Zhang Q, Shen Y. Yi S, et al. Mol Genet Genomic Med. 2021 Jun;9(6):e1683. doi: 10.1002/mgg3.1683. Epub 2021 May 12. Mol Genet Genomic Med. 2021. PMID: 33978323 Free PMC article.

7

Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease.

Cadieux-Dion M, Hughes S, Engleman K, Rush ET, Saunders C. Cadieux-Dion M, et al. Am J Med Genet A. 2021 May;185(5):1515-1518. doi: 10.1002/ajmg.a.62113. Epub 2021 Feb 8. Am J Med Genet A. 2021. PMID: 33559401

8

Prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother.

Chen CP, Chen CY, Chern SR, Wu PS, Chen SW, Wu FT, Wang W. Chen CP, et al. Taiwan J Obstet Gynecol. 2021 Jan;60(1):165-168. doi: 10.1016/j.tjog.2020.11.026. Taiwan J Obstet Gynecol. 2021. PMID: 33494995 Free article.

9

Defining dysmorphic facial features in congenital Zika syndrome.

Fonteles CSR, Monteiro FC Filho, Bastos Vasconcelos R, Jalles Monteiro A, Maia Chaves Júnior C, Franco Marçal F, Asfor Rocha Carvalho Martins R, Pereira de Oliveira AL, de Sá Cavalcante G, Palhano Toscano B, Costa Figueiredo Lopes TE, Gurgel Costa FW, Rodrigues Ribeiro T, Verçosa IMC, Pessoa ALS, Pamplona de Góes Cavalcanti L, Ribeiro EM. Fonteles CSR, et al. Am J Med Genet A. 2021 Feb;185(2):424-433. doi: 10.1002/ajmg.a.61980. Epub 2020 Nov 20. Am J Med Genet A. 2021. PMID: 33215846

10

[Genetic analysis of a child with acrodysostosis type 2].

Wang L, Li Q, Li X, Wang Y, Li J, Wang J, Wang X. Wang L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Oct 10;37(10):1128-1131. doi: 10.3760/cma.j.cn511374-20191024-00541. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32924117 Chinese.

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