Publications:

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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: 569T>C

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: PAH: 569T>C; Val190Ala

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: PAH: 569T>C; rs62514919

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.

Plos Genetics

de Voer, Richarda M RM; Hahn, Marc-Manuel MM; Weren, Robbert D A RD; Mensenkamp, Arjen R AR; Gilissen, Christian C; van Zelst-Stams, Wendy A WA; Spruijt, Liesbeth L; Kets, C Marleen CM; Zhang, Junxiao J; Venselaar, Hanka H; Vreede, Lilian L; Schubert, Nil N; Tychon, Marloes M; Derks, Ronny R; Schackert, Hans K HK; Geurts van Kessel, Ad A; Hoogerbrugge, Nicoline N; Ligtenberg, Marjolijn J L MJ; Kuiper, Roland P RP

Publication Date: 2016-02

Variant appearance in text: PAH: V190A; rs62514919

PubMed Link: 26901136

Variant Present in the following documents:

• pgen.1005880.s003.xlsx, sheet 1

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Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

Orphanet Journal Of Rare Diseases

Jeannesson-Thivisol, Elise E; Feillet, François F; Chéry, Céline C; Perrin, Pascal P; Battaglia-Hsu, Shyue-Fang SF; Herbeth, Bernard B; Cano, Aline A; Barth, Magalie M; Fouilhoux, Alain A; Mention, Karine K; Labarthe, François F; Arnoux, Jean-Baptiste JB; Maillot, François F; Lenaerts, Catherine C; Dumesnil, Cécile C; Wagner, Kathy K; Terral, Daniel D; Broué, Pierre P; de Parscau, Loïc L; Gay, Claire C; Kuster, Alice A; Bédu, Antoine A; Besson, Gérard G; Lamireau, Delphine D; Odent, Sylvie S; Masurel, Alice A; Guéant, Jean-Louis JL; Namour, Fares F

Publication Date: 2015-12-15

Variant appearance in text: PAH: Val190Ala

PubMed Link: 26666653

Variant Present in the following documents:

• Main text
• 13023_2015_Article_375.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PAH: V190A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.

European Journal Of Human Genetics : Ejhg

Wettstein, Sarah S; Underhaug, Jarl J; Perez, Belen B; Marsden, Brian D BD; Yue, Wyatt W WW; Martinez, Aurora A; Blau, Nenad N

Publication Date: 2015-03

Variant appearance in text: PAH: 569T>C

PubMed Link: 24939588

Variant Present in the following documents:

• Main text

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Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.

Orphanet Journal Of Rare Diseases

Anjema, Karen K; van Rijn, Margreet M; Hofstede, Floris C FC; Bosch, Annet M AM; Hollak, Carla E M CE; Rubio-Gozalbo, Estela E; de Vries, Maaike C MC; Janssen, Mirian C H MC; Boelen, Carolien C A CC; Burgerhof, Johannes G M JG; Blau, Nenad N; Heiner-Fokkema, M Rebecca MR; van Spronsen, Francjan J FJ

Publication Date: 2013-07-10

Variant appearance in text: PAH: V190A

PubMed Link: 23842451

Variant Present in the following documents:

• Main text
• 1750-1172-8-103.pdf

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Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

Jimd Reports

Sarkissian, Christineh N CN; Gamez, Alejandra A; Scott, Patrick P; Dauvillier, Jerome J; Dorenbaum, Alejandro A; Scriver, Charles R CR; Stevens, Raymond C RC

Publication Date: 2012

Variant appearance in text: PAH: V190A

PubMed Link: 23430918

Variant Present in the following documents:

• Main text

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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: V190A

PubMed Link: 22841515

Variant Present in the following documents:

• Main text

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The role of protein structural analysis in the next generation sequencing era.

Topics In Current Chemistry

Yue, Wyatt W WW; Froese, D Sean DS; Brennan, Paul E PE

Publication Date: 2014

Variant appearance in text: PAH: V190A

PubMed Link: 22610134

Variant Present in the following documents:

• Main text
• 978-3-642-39942-8_Chapter_326.pdf

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Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Erlandsen, Heidi H; Pey, Angel L AL; Gámez, Alejandra A; Pérez, Belén B; Desviat, Lourdes R LR; Aguado, Cristina C; Koch, Richard R; Surendran, Sankar S; Tyring, Stephen S; Matalon, Reuben R; Scriver, Charles R CR; Ugarte, Magdalena M; Martínez, Aurora A; Stevens, Raymond C RC

Publication Date: 2004-11-30

Variant appearance in text:

PubMed Link: 15557004

Variant Present in the following documents:

• Main text

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