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: 1219C>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Sapropterin for phenylketonuria: A Japanese post-marketing surveillance study.

Pediatrics International : Official Journal Of The Japan Pediatric Society

Tamura, Mina M; Seki, Shizuka S; Kakurai, Yasuyuki Y; Chikada, Shuichi S; Wada, Kento K

Publication Date: 2022-01

Variant appearance in text: PAH: P407S

PubMed Link: 34331785

Variant Present in the following documents:

• Main text
• PED-64-0.pdf

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Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan.

International Journal Of Neonatal Screening

Odagiri, Shino S; Kabata, Daijiro D; Tomita, Shogo S; Kudo, Satoshi S; Sakaguchi, Tomoko T; Nakano, Noriko N; Yamamoto, Kouji K; Shintaku, Haruo H; Hamazaki, Takashi T

Publication Date: 2021-03-18

Variant appearance in text: PAH: 1219C>T; P407S

PubMed Link: 33803550

Variant Present in the following documents:

• Main text
• IJNS-07-00017.pdf

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: PAH: 1219C>T; P407S

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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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: P407S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: PAH: P407S

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

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Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

American Journal Of Human Genetics

Pey, Angel L AL; Stricher, Francois F; Serrano, Luis L; Martinez, Aurora A

Publication Date: 2007-11

Variant appearance in text: PAH: P407S

PubMed Link: 17924342

Variant Present in the following documents:

• Main text

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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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