Publications:

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Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.

Frontiers In Genetics

Srivastava, Priyanka P; Bamba, Chitra C; Chopra, Seema S; Rohilla, Minakshi M; Chaudhry, Chakshu C; Kaur, Anupriya A; Panigrahi, Inusha I; Mandal, Kausik K

Publication Date: 2023

Variant appearance in text: PAH: 355C>T; Pro119Ser

PubMed Link: 37260775

Variant Present in the following documents:

• Main text
• fgene-14-1155211.pdf

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Intronic variants in inborn errors of metabolism: Beyond the exome.

Frontiers In Genetics

Hertzog, Ashley A; Selvanathan, Arthavan A; Farnsworth, Elizabeth E; Tchan, Michel M; Adams, Louisa L; Lewis, Katherine K; Tolun, Adviye Ayper AA; Bennetts, Bruce B; Ho, Gladys G; Bhattacharya, Kaustuv K

Publication Date: 2022

Variant appearance in text: PAH: 355C>T

PubMed Link: 36561316

Variant Present in the following documents:

• Main text
• fgene-13-1031495.pdf

View BVdb publication page

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Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.

Endocrinology, Diabetes & Metabolism

Rovelli, Valentina V; Cefalo, Graziella G; Ercoli, Vittoria V; Zuvadelli, Juri J; Olivia, Turri T; Graziani, Daniela D; Luisella, Alberti A; Bassi, Davide D; Re Dionigi, Alice A; Selmi, Raed R; Paci, Sabrina S; Salvatici, Elisabetta E; Banderali, Giuseppe G

Publication Date: 2022-12-19

Variant appearance in text: PAH: Pro119Ser

PubMed Link: 36537053

Variant Present in the following documents:

• Main text
• EDM2-6-e396.pdf

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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: 355C>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.

Oncotarget

Joshi, Asim A; Mishra, Rohit R; Desai, Sanket S; Chandrani, Pratik P; Kore, Hitesh H; Sunder, Roma R; Hait, Supriya S; Iyer, Prajish P; Trivedi, Vaishakhi V; Choughule, Anuradha A; Noronha, Vanita V; Joshi, Amit A; Patil, Vijay V; Menon, Nandini N; Kumar, Rajiv R; Prabhash, Kumar K; Dutt, Amit A

Publication Date: 2021-03-16

Variant appearance in text: rs398123292

PubMed Link: 33796225

Variant Present in the following documents:

• oncotarget-12-578-s005.xlsx, sheet 1

View BVdb publication page

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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: 355C>T; P119S

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: PAH: 355C>T; Pro119Ser; rs398123292

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: PAH: 355C>T; Pro119Ser

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.

Annals Of Translational Medicine

Su, Yajie Y; Wang, Huijun H; Rejiafu, Nuerya N; Wu, Bingbing B; Jiang, Haili H; Chen, Hongbo H; A, Xian X; Qian, Yanyan Y; Li, Mingzhu M; Lu, Yulan Y; Ren, Yan Y; Li, Long L; Zhou, Wenhao W

Publication Date: 2019-06

Variant appearance in text: PAH: 355C>T; P119S

PubMed Link: 31355225

Variant Present in the following documents:

• Main text

View BVdb publication page

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: PAH: P119S

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 35

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