Publications:

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: PAH: E182K

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

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Channelopathy Genes in Pulmonary Arterial Hypertension.

Biomolecules

Welch, Carrie L CL; Chung, Wendy K WK

Publication Date: 2022-02-07

Variant appearance in text: PAH: 544G>A; Glu182Lys

PubMed Link: 35204766

Variant Present in the following documents:

• Main text
• biomolecules-12-00265.pdf

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: PAH: E182K

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

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Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

Molecular Genetics & Genomic Medicine

Ferreira, Filipa F; Azevedo, Luísa L; Neiva, Raquel R; Sousa, Carmen C; Fonseca, Helena H; Marcão, Ana A; Rocha, Hugo H; Carmona, Célia C; Ramos, Sónia S; Bandeira, Anabela A; Martins, Esmeralda E; Campos, Teresa T; Rodrigues, Esmeralda E; Garcia, Paula P; Diogo, Luísa L; Ferreira, Ana Cristina AC; Sequeira, Silvia S; Silva, Francisco F; Rodrigues, Luísa L; Gaspar, Ana A; Janeiro, Patrícia P; Amorim, António A; Vilarinho, Laura L

Publication Date: 2021-03

Variant appearance in text: PAH: 544G>A; Glu182Lys

PubMed Link: 33465300

Variant Present in the following documents:

• Main text
• MGG3-9-e1559.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: 544G>A; E182K

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine

Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D

Publication Date: 2019-12

Variant appearance in text: PAH: 544G>A

PubMed Link: 31792460

Variant Present in the following documents:

• 41591_2019_654_MOESM2_ESM.xlsx, sheet 1

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Laccases: structure, function, and potential application in water bioremediation.

Microbial Cell Factories

Arregui, Leticia L; Ayala, Marcela M; Gómez-Gil, Ximena X; Gutiérrez-Soto, Guadalupe G; Hernández-Luna, Carlos Eduardo CE; Herrera de Los Santos, Mayra M; Levin, Laura L; Rojo-Domínguez, Arturo A; Romero-Martínez, Daniel D; Saparrat, Mario C N MCN; Trujillo-Roldán, Mauricio A MA; Valdez-Cruz, Norma A NA

Publication Date: 2019-11-14

Variant appearance in text: PAH: E182K

PubMed Link: 31727078

Variant Present in the following documents:

• Main text

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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: 544G>A; E182K

PubMed Link: 31355225

Variant Present in the following documents:

• Main text

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Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.

Molecular Genetics & Genomic Medicine

Abbasi, Yeganeh Y; Jabbari, Javad J; Jabbari, Reza R; Glinge, Charlotte C; Izadyar, Seyed Bahador SB; Spiekerkoetter, Edda E; Zamanian, Roham T RT; Carlsen, Jørn J; Tfelt-Hansen, Jacob J

Publication Date: 2018-09

Variant appearance in text: PAH: E182K

PubMed Link: 30084161

Variant Present in the following documents:

• MGG3-6-835.pdf

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Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.

Circulation. Genomic And Precision Medicine

Zhu, Na N; Gonzaga-Jauregui, Claudia C; Welch, Carrie L CL; Ma, Lijiang L; Qi, Hongjian H; King, Alejandra K AK; Krishnan, Usha U; Rosenzweig, Erika B EB; Ivy, D Dunbar DD; Austin, Eric D ED; Hamid, Rizwan R; Nichols, William C WC; Pauciulo, Michael W MW; Lutz, Katie A KA; Sawle, Ashley A; Reid, Jeffrey G JG; Overton, John D JD; Baras, Aris A; Dewey, Frederick F; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2018-04

Variant appearance in text: PAH: E182K

PubMed Link: 29631995

Variant Present in the following documents:

• Main text

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Epigenetic modulation as a therapeutic approach for pulmonary arterial hypertension.

Experimental & Molecular Medicine

Kim, Jun-Dae JD; Lee, Aram A; Choi, Jihea J; Park, Youngsook Y; Kang, Hyesoo H; Chang, Woochul W; Lee, Myeong-Sok MS; Kim, Jongmin J

Publication Date: 2015-07-31

Variant appearance in text: PAH: E182K

PubMed Link: 26228095

Variant Present in the following documents:

• emm201545a.pdf

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Directed evolution of fungal laccases.

Current Genomics

Maté, Diana D; García-Ruiz, Eva E; Camarero, Susana S; Alcalde, Miguel M

Publication Date: 2011-04

Variant appearance in text: PAH: E182K

PubMed Link: 21966249

Variant Present in the following documents:

• Main text
• CG-12-113.pdf

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