Publications:

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: PAH: 58C>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

Nature Communications

von Loga, Katharina K; Woolston, Andrew A; Punta, Marco M; Barber, Louise J LJ; Griffiths, Beatrice B; Semiannikova, Maria M; Spain, Georgia G; Challoner, Benjamin B; Fenwick, Kerry K; Simon, Ronald R; Marx, Andreas A; Sauter, Guido G; Lise, Stefano S; Matthews, Nik N; Gerlinger, Marco M

Publication Date: 2020-01-16

Variant appearance in text: PAH: Q20X

PubMed Link: 31949146

Variant Present in the following documents:

• 41467_2019_13915_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.

Jimd Reports

Djordjevic, Maja M; Klaassen, Kristel K; Sarajlija, Adrijan A; Tosic, Natasa N; Zukic, Branka B; Kecman, Bozica B; Ugrin, Milena M; Spasovski, Vesna V; Pavlovic, Sonja S; Stojiljkovic, Maja M

Publication Date: 2013

Variant appearance in text: PAH: 58C>T; Q20X

PubMed Link: 23430547

Variant Present in the following documents:

• Main text

View BVdb publication page

Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.

Molecular Genetics And Metabolism

Quirk, Meghan E ME; Dobrowolski, Steven F SF; Nelson, Benjamin E BE; Coffee, Bradford B; Singh, Rani H RH

Publication Date: 2012-09

Variant appearance in text: PAH: Q20X

PubMed Link: 22841515

Variant Present in the following documents:

• Main text

View BVdb publication page