PubMed (Bookshelf cited) for id: 388039

Year	Number of Results
1969	1
2000	1
2003	1
2005	1
2007	1
2012	1
2013	1
2016	4
2017	7
2018	5
2019	6
2020	12
2021	9
2022	2
2023	1
2024	0

1

The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored.

Gambella A, Kalantari S, Cadamuro M, Quaglia M, Delvecchio M, Fabris L, Pinon M. Gambella A, et al. Cells. 2023 Jan 13;12(2):307. doi: 10.3390/cells12020307. Cells. 2023. PMID: 36672242 Free PMC article. Review.

2

Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1.

Grammatikopoulos T, Hadzic N, Foskett P, Strautnieks S, Samyn M, Vara R, Dhawan A, Hertecant J, Al Jasmi F, Rahman O, Deheragoda M, Bull LN, Thompson RJ; University of Washington Center for Mendelian Genomics. Grammatikopoulos T, et al. Hepatol Commun. 2022 Mar;6(3):473-479. doi: 10.1002/hep4.1824. Epub 2021 Oct 22. Hepatol Commun. 2022. PMID: 34677006 Free PMC article.

3

KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease.

Stalke A, Sgodda M, Cantz T, Skawran B, Lainka E, Hartleben B, Baumann U, Pfister ED. Stalke A, et al. J Pediatr. 2022 Jan;240:284-291.e9. doi: 10.1016/j.jpeds.2021.09.019. Epub 2021 Sep 21. J Pediatr. 2022. PMID: 34555379 Free article.

4

Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations.

Alfadhel M, Umair M, Almuzzaini B, Asiri A, Al Tuwaijri A, Alhamoudi K, Alyafee Y, Al-Owain M. Alfadhel M, et al. Mol Syndromol. 2021 Jun;12(3):133-140. doi: 10.1159/000513829. Epub 2021 May 11. Mol Syndromol. 2021. PMID: 34177428 Free PMC article.

5

A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant.

Mandato C, Siano MA, Nazzaro L, Gelzo M, Francalanci P, Rizzo F, D'Agostino Y, Morleo M, Brillante S, Weisz A, Franco B, Vajro P. Mandato C, et al. Orphanet J Rare Dis. 2021 Apr 14;16(1):179. doi: 10.1186/s13023-021-01775-8. Orphanet J Rare Dis. 2021. PMID: 33853651 Free PMC article.

6

Progressive Familial Intrahepatic Cholestasis: Is It Time to Transition to Genetic Cholestasis?

Squires RH, Monga SP. Squires RH, et al. J Pediatr Gastroenterol Nutr. 2021 May 1;72(5):641-643. doi: 10.1097/MPG.0000000000003111. J Pediatr Gastroenterol Nutr. 2021. PMID: 33661247 No abstract available.

7

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Am J Hum Genet. 2021 Jan 7;108(1):8-15. doi: 10.1016/j.ajhg.2020.11.013. Am J Hum Genet. 2021. PMID: 33417889 Free PMC article. Review.

8

Cholestasis Due to USP53 Deficiency.

Bull LN, Ellmers R, Foskett P, Strautnieks S, Sambrotta M, Czubkowski P, Jankowska I, Wagner B, Deheragoda M, Thompson RJ. Bull LN, et al. J Pediatr Gastroenterol Nutr. 2021 May 1;72(5):667-673. doi: 10.1097/MPG.0000000000002926. J Pediatr Gastroenterol Nutr. 2021. PMID: 33075013 Free PMC article.

9

New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.

Alhebbi H, Peer-Zada AA, Al-Hussaini AA, Algubaisi S, Albassami A, AlMasri N, Alrusayni Y, Alruzug IM, Alharby E, Samman MA, Ayoub SZ, Maddirevula S, Peake RWA, Alkuraya FS, Wali S, Almontashiri NAM. Alhebbi H, et al. J Hum Genet. 2021 Feb;66(2):151-159. doi: 10.1038/s10038-020-0811-1. Epub 2020 Aug 6. J Hum Genet. 2021. PMID: 32759993

10

Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.

Luan W, Hao CZ, Li JQ, Wei Q, Gong JY, Qiu YL, Lu Y, Shen CH, Xia Q, Xie XB, Zhang MH, Abuduxikuer K, Li ZD, Wang L, Xing QH, Knisely AS, Wang JS. Luan W, et al. J Med Genet. 2021 Aug;58(8):514-525. doi: 10.1136/jmedgenet-2019-106706. Epub 2020 Jul 31. J Med Genet. 2021. PMID: 32737136

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