Publications:

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Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth.

Scientific Reports

Theron, Maurane M; Jeannesson, Elise E; Canton, Marie M; Namour, Farès F; Oussalah, Abderrahim A; Feillet, François F; Wiedemann, Arnaud A

Publication Date: 2023-06-12

Variant appearance in text: PAH: 1042C>G

PubMed Link: 37308610

Variant Present in the following documents:

• 41598_2023_Article_36550.pdf

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Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants.

Scientific Reports

Sarodaya, Neha N; Tyagi, Apoorvi A; Kim, Hyun-Jin HJ; Kang, Ju-Seop JS; Singh, Vijai V; Hong, Seok-Ho SH; Kim, Woo Jin WJ; Kim, Kye-Seong KS; Ramakrishna, Suresh S

Publication Date: 2022-08-20

Variant appearance in text: PAH: L348V

PubMed Link: 35987969

Variant Present in the following documents:

• Main text
• 41598_2022_Article_18656.pdf

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Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Jimd Reports

Martín-Rivada, Álvaro Á; Palomino Pérez, Laura L; Ruiz-Sala, Pedro P; Navarrete, Rosa R; Cambra Conejero, Ana A; Quijada Fraile, Pilar P; Moráis López, Ana A; Belanger-Quintana, Amaya A; Martín-Hernández, Elena E; Bellusci, Marcello M; Cañedo Villaroya, Elvira E; Chumillas Calzada, Silvia S; García Silva, María Teresa MT; Bergua Martínez, Ana A; Stanescu, Sinziana S; Martínez-Pardo Casanova, Mercedes M; Ruano, Miguel L F MLF; Ugarte, Magdalena M; Pérez, Belén B; Pedrón-Giner, Consuelo C

Publication Date: 2022-03

Variant appearance in text: PAH: Leu348Val

PubMed Link: 35281663

Variant Present in the following documents:

• Main text
• JMD2-63-146.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: 1042C>G

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.

Genes

Vela-Amieva, Marcela M; Alcántara-Ortigoza, Miguel Angel MA; Ibarra-González, Isabel I; González-Del Angel, Ariadna A; Fernández-Hernández, Liliana L; Guillén-López, Sara S; López-Mejía, Lizbeth L; Carrillo-Nieto, Rosa Itzel RI; Belmont-Martínez, Leticia L; Fernández-Lainez, Cynthia C

Publication Date: 2021-10-23

Variant appearance in text: PAH: Leu348Val

PubMed Link: 34828281

Variant Present in the following documents:

• Main text
• genes-12-01676.pdf

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Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.

Jama Network Open

Liu, Ning N; Xiao, Jing J; Gijavanekar, Charul C; Pappan, Kirk L KL; Glinton, Kevin E KE; Shayota, Brian J BJ; Kennedy, Adam D AD; Sun, Qin Q; Sutton, V Reid VR; Elsea, Sarah H SH

Publication Date: 2021-07-01

Variant appearance in text: PAH: 1042C>G; Leu348Val

PubMed Link: 34251446

Variant Present in the following documents:

• jamanetwopen-e2114155-s001.pdf

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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: 1042C>G; Leu348Val

PubMed Link: 33465300

Variant Present in the following documents:

• Main text
• MGG3-9-e1559.pdf

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Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.

Genes

Tresbach, Rafael Hencke RH; Sperb-Ludwig, Fernanda F; Ligabue-Braun, Rodrigo R; Tonon, Tássia T; de Oliveira Cardoso, Maria Teresinha MT; Heredia, Romina Soledad RS; da Silva Rosa, Maria Teresa Alves MTA; Martins, Bárbara Cátia BC; Poubel, Monique Oliveira MO; da Silva, Luiz Carlos Santana LCS; Maillot, François F; Schwartz, Ida Vanessa Doederlein IVD

Publication Date: 2020-12-25

Variant appearance in text: PAH: 1042C>G; Leu348Val

PubMed Link: 33375644

Variant Present in the following documents:

• Main text
• genes-12-00020.pdf

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: PAH: 1042C>G; L348V

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

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Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation.

Orphanet Journal Of Rare Diseases

Cannet, Claire C; Pilotto, Andrea A; Rocha, Júlio César JC; Schäfer, Hartmut H; Spraul, Manfred M; Berg, Daniela D; Nawroth, Peter P; Kasperk, Christian C; Gramer, Gwendolyn G; Haas, Dorothea D; Piel, David D; Kölker, Stefan S; Hoffmann, Georg G; Freisinger, Peter P; Trefz, Friedrich F

Publication Date: 2020-02-27

Variant appearance in text: PAH: L348V

PubMed Link: 32106880

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1329.pdf

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Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.

Ebiomedicine

Oussalah, Abderrahim A; Jeannesson-Thivisol, Elise E; Chéry, Céline C; Perrin, Pascal P; Rouyer, Pierre P; Josse, Thomas T; 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, Loic L; Gay, Claire C; Kuster, Alice A; Bédu, Antoine A; Besson, Gérard G; Lamireau, Delphine D; Odent, Sylvie S; Masurel, Alice A; Rodriguez-Guéant, Rosa-Maria RM; Feillet, François F; Guéant, Jean-Louis JL; Namour, Fares F

Publication Date: 2020-01

Variant appearance in text: PAH: 1042C>G; Leu348Val; rs62516092

PubMed Link: 31923802

Variant Present in the following documents:

• Main text
• main.pdf

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Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.

Molecular Cytogenetics

Koumbaris, George G; Achilleos, Achilleas A; Nicolaou, Michalis M; Loizides, Charalambos C; Tsangaras, Kyriakos K; Kypri, Elena E; Mina, Petros P; Sismani, Carolina C; Velissariou, Voula V; Christopoulou, Georgia G; Constantoulakis, Pantelis P; Manolakos, Emmanouil E; Papoulidis, Ioannis I; Stambouli, Danai D; Ioannides, Marios M; Patsalis, Philippos P

Publication Date: 2019

Variant appearance in text: PAH: 1042C>G; Leu348Val

PubMed Link: 31832098

Variant Present in the following documents:

• 13039_2019_459_MOESM4_ESM.xlsx, sheet 1

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: PAH: 1042C>G; rs62516092

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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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: 1042C>G; L348V

PubMed Link: 31355225

Variant Present in the following documents:

• Main text

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Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports

Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X

Publication Date: 2019-07-02

Variant appearance in text: PAH: L348V

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: PAH: 1042C>G; Leu348Val

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.

Molecular Genetics & Genomic Medicine

Vieira Neto, Eduardo E; Laranjeira, Francisco F; Quelhas, Dulce D; Ribeiro, Isaura I; Seabra, Alexandre A; Mineiro, Nicole N; Carvalho, Lilian M LM; Lacerda, Lúcia L; Ribeiro, Márcia G MG

Publication Date: 2019-05

Variant appearance in text: PAH: 1042C>G; L348V

PubMed Link: 30829006

Variant Present in the following documents:

• Main text
• MGG3-7-e610.pdf

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Behavioral and Emotional Problems in Early-Treated Brazilian Children and Adolescents with Phenylketonuria.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Vieira Neto, Eduardo E; Maia Filho, Heber de Souza HS; Monteiro, Claudia Braga CB; Carvalho, Lilian de Mattos LM; da Cruz, Thuane Silva TS; de Barros, Belisia Vasconcelos BV; Ribeiro, Marcia Gonçalves MG

Publication Date: 2018-10-30

Variant appearance in text: PAH: 1042C>G; L348V

PubMed Link: 30375370

Variant Present in the following documents:

• medscimonit-24-7759.pdf

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Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.

Molecular Genetics & Genomic Medicine

Vieira Neto, Eduardo E; Laranjeira, Francisco F; Quelhas, Dulce D; Ribeiro, Isaura I; Seabra, Alexandre A; Mineiro, Nicole N; D M Carvalho, Lilian L; Lacerda, Lúcia L; G Ribeiro, Márcia M

Publication Date: 2018-05-10

Variant appearance in text: PAH: 1042C>G; L348V

PubMed Link: 29749107

Variant Present in the following documents:

• Main text
• MGG3-6-575.pdf

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Melanoma cases demonstrate increased carrier frequency of phenylketonuria/hyperphenylalanemia mutations.

Pigment Cell & Melanoma Research

Arbesman, Joshua J; Ravichandran, Sairekha S; Funchain, Pauline P; Thompson, Cheryl L CL

Publication Date: 2018-07

Variant appearance in text: PAH: L348V

PubMed Link: 29473999

Variant Present in the following documents:

• Main text

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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: 1042C>G; rs62516092

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Amino Acid Medical Foods Provide a High Dietary Acid Load and Increase Urinary Excretion of Renal Net Acid, Calcium, and Magnesium Compared with Glycomacropeptide Medical Foods in Phenylketonuria.

Journal Of Nutrition And Metabolism

Stroup, Bridget M BM; Sawin, Emily A EA; Murali, Sangita G SG; Binkley, Neil N; Hansen, Karen E KE; Ney, Denise M DM

Publication Date: 2017

Variant appearance in text: PAH: L348V

PubMed Link: 28546877

Variant Present in the following documents:

• Main text
• JNME2017-1909101.pdf

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Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria.

Molecular Genetics And Metabolism

Ney, Denise M DM; Murali, Sangita G SG; Stroup, Bridget M BM; Nair, Nivedita N; Sawin, Emily A EA; Rohr, Fran F; Levy, Harvey L HL

Publication Date: 2017-06

Variant appearance in text: PAH: L348V

PubMed Link: 28400091

Variant Present in the following documents:

• Main text

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Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial.

The American Journal Of Clinical Nutrition

Ney, Denise M DM; Stroup, Bridget M BM; Clayton, Murray K MK; Murali, Sangita G SG; Rice, Gregory M GM; Rohr, Frances F; Levy, Harvey L HL

Publication Date: 2016-08

Variant appearance in text: PAH: L348V

PubMed Link: 27413125

Variant Present in the following documents:

• Main text
• ajcn135293.pdf

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Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Plos One

Yubero, Dèlia D; Brandi, Núria N; Ormazabal, Aida A; Garcia-Cazorla, Àngels À; Pérez-Dueñas, Belén B; Campistol, Jaime J; Ribes, Antonia A; Palau, Francesc F; Artuch, Rafael R; Armstrong, Judith J; ,

Publication Date: 2016

Variant appearance in text: PAH: Leu348Val

PubMed Link: 27243974

Variant Present in the following documents:

• pone.0156359.s002.xlsx, sheet 1

View BVdb publication page

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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: Leu348Val

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: L348V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: PAH: L348V

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China.

International Journal Of Clinical And Experimental Medicine

Yu, Wuzhong W; He, Jiang J; Yang, Xi X; Zou, Hongyun H; Gui, Junhao J; Wang, Rui R; Yang, Liu L; Wang, Zheng Z; Lei, Quan Q

Publication Date: 2014

Variant appearance in text: PAH: 1042C>G; L348V

PubMed Link: 25550961

Variant Present in the following documents:

• Main text

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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: 1042C>G; Leu348Val

PubMed Link: 24939588

Variant Present in the following documents:

• Main text

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The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.

Jimd Reports

Ho, Gladys G; Alexander, Ian I; Bhattacharya, Kaustuv K; Dennison, Barbara B; Ellaway, Carolyn C; Thompson, Sue S; Wilcken, Bridget B; Christodoulou, John J

Publication Date: 2014

Variant appearance in text: PAH: 1042C>G; L348V

PubMed Link: 24368688

Variant Present in the following documents:

• Main text

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Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study.

Jimd Reports

Leuders, Sarah S; Wolfgart, Eva E; Ott, Torsten T; du Moulin, Marcel M; van Teeffelen-Heithoff, Agnes A; Vogelpohl, Lydia L; Och, Ulrike U; Marquardt, Thorsten T; Weglage, Josef J; Feldmann, Reinhold R; Rutsch, Frank F

Publication Date: 2014

Variant appearance in text: PAH: L348V

PubMed Link: 24190797

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: L348V

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: L348V

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: L348V

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: L348V

PubMed Link: 22610134

Variant Present in the following documents:

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

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Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.

Proteins

Shi, Zhen Z; Sellers, Jenn J; Moult, John J

Publication Date: 2012-01

Variant appearance in text: PAH: L348V

PubMed Link: 21953985

Variant Present in the following documents:

• Main text

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Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays.

Plos One

Poulsen, Lena L; Søe, Martin Jensen MJ; Møller, Lisbeth Birk LB; Dufva, Martin M

Publication Date: 2011-03-22

Variant appearance in text: PAH: 1042C>G; L348V

PubMed Link: 21445337

Variant Present in the following documents:

• Main text
• pone.0014777.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: L348V

PubMed Link: 17924342

Variant Present in the following documents:

• Main text

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