PubMed (Bookshelf cited) for id: 419514

Year	Number of Results
1980	1
1993	1
1998	1
1999	1
2001	2
2002	2
2003	2
2004	3
2005	2
2006	4
2008	1
2010	2
2011	3
2012	3
2013	4
2014	1
2015	2
2016	2
2017	3
2018	4
2019	3
2020	4
2021	7
2022	5
2023	1

1

Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population.

Chan KS, Bohnsack BL, Ing A, Drackley A, Castelluccio V, Zhang KX, Ralay-Ranaivo H, Rossen JL. Chan KS, et al. Genes (Basel). 2023 Jan 3;14(1):135. doi: 10.3390/genes14010135. Genes (Basel). 2023. PMID: 36672876 Free PMC article.

2

Hermansky-Pudlak syndrome: Gene therapy for pulmonary fibrosis.

Nieto-Alamilla G, Behan M, Hossain M, Gochuico BR, Malicdan MCV. Nieto-Alamilla G, et al. Mol Genet Metab. 2022 Sep-Oct;137(1-2):187-191. doi: 10.1016/j.ymgme.2022.08.008. Epub 2022 Sep 2. Mol Genet Metab. 2022. PMID: 36088816

3

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.

4

Lung Transplantation for Pulmonary Fibrosis Associated With Hermansky-Pudlak Syndrome. A Single-center Experience.

Benvenuto L, Qayum S, Kim H, Robbins H, Shah L, Dimango A, Magda G, Grewal H, Lemaitre P, Stanifer BP, Sonett J, D'Ovidio F, Arcasoy SM. Benvenuto L, et al. Transplant Direct. 2022 Mar 23;8(4):e1303. doi: 10.1097/TXD.0000000000001303. eCollection 2022 Apr. Transplant Direct. 2022. PMID: 35350109 Free PMC article.

5

New insights into the pathogenesis of Hermansky-Pudlak syndrome.

Li W, Hao CJ, Hao ZH, Ma J, Wang QC, Yuan YF, Gong JJ, Chen YY, Yu JY, Wei AH. Li W, et al. Pigment Cell Melanoma Res. 2022 May;35(3):290-302. doi: 10.1111/pcmr.13030. Epub 2022 Feb 13. Pigment Cell Melanoma Res. 2022. PMID: 35129281 Review.

6

Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7).

Boeckelmann D, Wolter M, Neubauer K, Sobotta F, Lenz A, Glonnegger H, Käsmann-Kellner B, Mann J, Ehl S, Zieger B. Boeckelmann D, et al. Front Pharmacol. 2022 Jan 19;12:786937. doi: 10.3389/fphar.2021.786937. eCollection 2021. Front Pharmacol. 2022. PMID: 35126127 Free PMC article.

7

Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism.

Hovnik T, Debeljak M, Tekavčič Pompe M, Bertok S, Battelino T, Stirn Kranjc B, Trebušak Podkrajšek K. Hovnik T, et al. Acta Chim Slov. 2021 Sep;68(3):683-692. Acta Chim Slov. 2021. PMID: 34897530

8

Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics.

Velázquez-Díaz P, Nakajima E, Sorkhdini P, Hernandez-Gutierrez A, Eberle A, Yang D, Zhou Y. Velázquez-Díaz P, et al. Front Pharmacol. 2021 Mar 18;12:644671. doi: 10.3389/fphar.2021.644671. eCollection 2021. Front Pharmacol. 2021. PMID: 33841163 Free PMC article. Review.

9

The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population.

Liu T, Yuan Y, Bai D, Yao X, Zhang T, Huang Q, Qi Z, Yang L, Yang X, Li W, Wei A. Liu T, et al. J Dermatol. 2021 May;48(5):676-680. doi: 10.1111/1346-8138.15762. Epub 2021 Feb 4. J Dermatol. 2021. PMID: 33543539

10

Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.

Yokoyama T, Gochuico BR. Yokoyama T, et al. Eur Respir Rev. 2021 Feb 2;30(159):200193. doi: 10.1183/16000617.0193-2020. Print 2021 Mar 31. Eur Respir Rev. 2021. PMID: 33536261 Free PMC article.

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