PubMed (Bookshelf cited) for id: 462224

Year	Number of Results
1975	1
1977	2
1996	1
1997	1
2000	1
2001	1
2002	2
2006	2
2007	1
2009	4
2010	2
2011	7
2012	7
2013	5
2014	2
2015	4
2016	5
2017	11
2018	3
2019	1
2020	2
2022	1
2023	0

1

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.

2

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting.

Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. Stenson PD, et al. Hum Genet. 2020 Oct;139(10):1197-1207. doi: 10.1007/s00439-020-02199-3. Epub 2020 Jun 28. Hum Genet. 2020. PMID: 32596782 Free PMC article. Review.

3

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.

Walczak-Sztulpa J, Posmyk R, Bukowska-Olech EM, Wawrocka A, Jamsheer A, Oud MM, Schmidts M, Arts HH, Latos-Bielenska A, Wasilewska A. Walczak-Sztulpa J, et al. Orphanet J Rare Dis. 2020 Feb 1;15(1):36. doi: 10.1186/s13023-020-1303-2. Orphanet J Rare Dis. 2020. PMID: 32007091 Free PMC article.

4

Nosology and classification of genetic skeletal disorders: 2019 revision.

Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML. Mortier GR, et al. Am J Med Genet A. 2019 Dec;179(12):2393-2419. doi: 10.1002/ajmg.a.61366. Epub 2019 Oct 21. Am J Med Genet A. 2019. PMID: 31633310

5

Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.

Córdova-Fletes C, Becerra-Solano LE, Rangel-Sosa MM, Rivas-Estilla AM, Alberto Galán-Huerta K, Ortiz-López R, Rojas-Martínez A, Juárez-Vázquez CI, García-Ortiz JE. Córdova-Fletes C, et al. Eur J Med Genet. 2018 Mar;61(3):161-167. doi: 10.1016/j.ejmg.2017.11.011. Epub 2017 Nov 23. Eur J Med Genet. 2018. PMID: 29174089

6

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.

Walczak-Sztulpa J, Wawrocka A, Swiader-Lesniak A, Socha M, Jamsheer A, Drozdz D, Latos-Bielenska A, Zachwieja K. Walczak-Sztulpa J, et al. Birth Defects Res. 2018 Mar 1;110(4):376-381. doi: 10.1002/bdr2.1151. Epub 2017 Nov 14. Birth Defects Res. 2018. PMID: 29134781

7

Orthotopic liver transplantation for Sensenbrenner syndrome.

Ackah RL, Yoeli D, Kueht M, Galván NTN, Cotton RT, Rana A, O'Mahony CA, Goss JA. Ackah RL, et al. Pediatr Transplant. 2018 Feb;22(1). doi: 10.1111/petr.13077. Epub 2017 Oct 26. Pediatr Transplant. 2018. PMID: 29076289

8

Parental influence on human germline de novo mutations in 1,548 trios from Iceland.

Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Jónsson H, et al. Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20. Nature. 2017. PMID: 28959963

9

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

Antony D, Nampoory N, Bacchelli C, Melhem M, Wu K, James CT, Beales PL, Hubank M, Thomas D, Mashankar A, Behbehani K, Schmidts M, Alsmadi O. Antony D, et al. Eur J Med Genet. 2017 Dec;60(12):658-666. doi: 10.1016/j.ejmg.2017.08.019. Epub 2017 Sep 12. Eur J Med Genet. 2017. PMID: 28870638 Review.

10

Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports.

Yoshikawa T, Kamei K, Nagata H, Saida K, Sato M, Ogura M, Ito S, Miyazaki O, Urushihara M, Kondo S, Sugawara N, Ishizuka K, Hamasaki Y, Shishido S, Morisada N, Iijima K, Nagata M, Yoshioka T, Ogata K, Ishikura K. Yoshikawa T, et al. Nephrology (Carlton). 2017 Jul;22(7):566-571. doi: 10.1111/nep.12996. Nephrology (Carlton). 2017. PMID: 28621010

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