PubMed (Bookshelf cited) for id: 376211

Year	Number of Results
1991	1
1992	1
1993	1
1995	1
1996	1
1998	2
2001	2
2002	1
2003	3
2005	1
2006	1
2007	2
2008	4
2009	1
2010	1
2011	1
2012	3
2013	4
2015	3
2016	1
2017	2
2018	2
2019	1
2020	1
2022	2
2024	0

1

Hearing characteristics and cochlear implant effects in children with Waardenburg syndrome: a case series.

Fan W, Ni K, Chen F, Li X. Fan W, et al. Transl Pediatr. 2022 Jul;11(7):1234-1241. doi: 10.21037/tp-22-271. Transl Pediatr. 2022. PMID: 35958009 Free PMC article.

2

Variation among DNA banking consent forms: points for clinicians to bank on.

Huang SJ, Amendola LM, Sternen DL. Huang SJ, et al. J Community Genet. 2022 Aug;13(4):389-397. doi: 10.1007/s12687-022-00601-3. Epub 2022 Jul 14. J Community Genet. 2022. PMID: 35834113 Free PMC article.

3

MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype.

Li W, Feng Y, Chen H, He C, Mei L, Liu XZ, Men M. Li W, et al. Otol Neurotol. 2020 Dec;41(10):e1250-e1255. doi: 10.1097/MAO.0000000000002821. Otol Neurotol. 2020. PMID: 32740552

4

A clinical and genetic study of 16 Japanese families with Waardenburg syndrome.

Minami SB, Nara K, Mutai H, Morimoto N, Sakamoto H, Takiguchi T, Kaga K, Matsunaga T. Minami SB, et al. Gene. 2019 Jul 1;704:86-90. doi: 10.1016/j.gene.2019.04.023. Epub 2019 Apr 10. Gene. 2019. PMID: 30978479

5

Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.

Chen K, Zhan Y, Wu X, Zong L, Jiang H. Chen K, et al. Int J Pediatr Otorhinolaryngol. 2018 Jan;104:200-204. doi: 10.1016/j.ijporl.2017.11.011. Epub 2017 Nov 16. Int J Pediatr Otorhinolaryngol. 2018. PMID: 29287868

6

Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1.

Morimoto N, Mutai H, Namba K, Kaneko H, Kosaki R, Matsunaga T. Morimoto N, et al. Auris Nasus Larynx. 2018 Apr;45(2):222-226. doi: 10.1016/j.anl.2017.03.022. Epub 2017 May 11. Auris Nasus Larynx. 2018. PMID: 28502583

7

The Hearing Outcomes of Cochlear Implantation in Waardenburg Syndrome.

Koyama H, Kashio A, Sakata A, Tsutsumiuchi K, Matsumoto Y, Karino S, Kakigi A, Iwasaki S, Yamasoba T. Koyama H, et al. Biomed Res Int. 2016;2016:2854736. doi: 10.1155/2016/2854736. Epub 2016 Jun 8. Biomed Res Int. 2016. PMID: 27376080 Free PMC article.

8

Loading of PAX3 to Mitotic Chromosomes Is Mediated by Arginine Methylation and Associated with Waardenburg Syndrome.

Wu TF, Yao YL, Lai IL, Lai CC, Lin PL, Yang WM. Wu TF, et al. J Biol Chem. 2015 Aug 14;290(33):20556-64. doi: 10.1074/jbc.M114.607713. Epub 2015 Jul 6. J Biol Chem. 2015. PMID: 26149688 Free PMC article.

9

Loss-of-function de novo mutations play an important role in severe human neural tube defects.

Lemay P, Guyot MC, Tremblay É, Dionne-Laporte A, Spiegelman D, Henrion É, Diallo O, De Marco P, Merello E, Massicotte C, Désilets V, Michaud JL, Rouleau GA, Capra V, Kibar Z. Lemay P, et al. J Med Genet. 2015 Jul;52(7):493-7. doi: 10.1136/jmedgenet-2015-103027. Epub 2015 Mar 24. J Med Genet. 2015. PMID: 25805808

10

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Richards S, et al. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741868 Free PMC article.

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