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: 442G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.

Genome Medicine

Zhu, Na N; Swietlik, Emilia M EM; Welch, Carrie L CL; Pauciulo, Michael W MW; Hagen, Jacob J JJ; Zhou, Xueya X; Guo, Yicheng Y; Karten, Johannes J; Pandya, Divya D; Tilly, Tobias T; Lutz, Katie A KA; Martin, Jennifer M JM; Treacy, Carmen M CM; Rosenzweig, Erika B EB; Krishnan, Usha U; Coleman, Anna W AW; Gonzaga-Jauregui, Claudia C; Lawrie, Allan A; Trembath, Richard C RC; Wilkins, Martin R MR; , ; , ; , ; , ; Morrell, Nicholas W NW; Shen, Yufeng Y; Gräf, Stefan S; Nichols, William C WC; Chung, Wendy K WK

Publication Date: 2021-05-10

Variant appearance in text: PAH: 442G>A

PubMed Link: 33971972

Variant Present in the following documents:

• Main text

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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: G148S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Difficulties in finding DNA mutations and associated phenotypic data in web resources using simple, uncomplicated search terms, and a suggested solution.

Human Genomics

Webb, Elizabeth A EA; Smith, Timothy D TD; Cotton, Richard G H RG

Publication Date: 2011-03

Variant appearance in text: PAH: G148S

PubMed Link: 21504866

Variant Present in the following documents:

• Main text
• 1479-7364-5-3-141.pdf

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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: G148S

PubMed Link: 17924342

Variant Present in the following documents:

• Main text

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