Publications:

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The analysis of using a panel of the most common variants in the PAH gene for the newborn screening in Ukraine.

Molecular Genetics And Metabolism Reports

Fishchuk, Liliya L; Rossokha, Zoia Z; Olkhovich, Natalia N; Pichkur, Nataliia N; Popova, Olena O; Medvedieva, Nataliia N; Vershyhora, Viktoriia V; Dubitska, Olha O; Shkurko, Tetiana T; Popovych, Larysa L; Bondar, Olga O; Morozuk, Irina I; Onyshchenko, Svitlana S; Yevtushok, Lyubov L; Tsizh, Oksana O; Bryl, Iryna I; Tul, Olena O; Kalynka, Svitlana S; Zinkina, Iryna I; Matviiuk, Svitlana S; Riabova, Yulianna Y; Gorovenko, Nataliia N

Publication Date: 2022-09

Variant appearance in text: PAH: Gly272Ter; rs62514952

PubMed Link: 36046396

Variant Present in the following documents:

• Main text
• main.pdf

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Genetic etiology and clinical challenges of phenylketonuria.

Human Genomics

Elhawary, Nasser A NA; AlJahdali, Imad A IA; Abumansour, Iman S IS; Elhawary, Ezzeldin N EN; Gaboon, Nagwa N; Dandini, Mohammed M; Madkhali, Abdulelah A; Alosaimi, Wafaa W; Alzahrani, Abdulmajeed A; Aljohani, Fawzia F; Melibary, Ehab M EM; Kensara, Osama A OA

Publication Date: 2022-07-19

Variant appearance in text: PAH: Gly272*

PubMed Link: 35854334

Variant Present in the following documents:

• Main text
• 40246_2022_Article_398.pdf

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Spatio-temporal dynamics of pathogenic variants associated with monogenic disorders reconstructed with ancient DNA.

Plos One

Toncheva, Draga D; Marinova, Maria M; Borovska, Plamenka P; Serbezov, Dimitar D

Publication Date: 2022

Variant appearance in text: rs62514952

PubMed Link: 35749392

Variant Present in the following documents:

• Main text
• pone.0269628.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: 814G>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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Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Pharmaceuticals (Basel, Switzerland)

Michorowska, Sylwia S

Publication Date: 2021-08-09

Variant appearance in text: PAH: G272X

PubMed Link: 34451881

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00785.pdf

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The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU.

Molecular Genetics And Metabolism Reports

Bik-Multanowski, Miroslaw M; Bik-Multanowska, Kinga K; Betka, Iwona I; Madetko-Talowska, Anna A

Publication Date: 2021-06

Variant appearance in text: PAH: G272*

PubMed Link: 33868932

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria.

Scientific Reports

Singh, Kuldeep K; Cornell, Cathleen S CS; Jackson, Robert R; Kabiri, Mostafa M; Phipps, Michael M; Desai, Mitul M; Fogle, Robert R; Ying, Xiaoyou X; Anarat-Cappillino, Gulbenk G; Geller, Sarah S; Johnson, Jennifer J; Roberts, Errin E; Malley, Katie K; Devlin, Tim T; DeRiso, Matthew M; Berthelette, Patricia P; Zhang, Yao V YV; Ryan, Susan S; Rao, Srinivas S; Thurberg, Beth L BL; Bangari, Dinesh S DS; Kyostio-Moore, Sirkka S

Publication Date: 2021-03-31

Variant appearance in text: PAH: G272X

PubMed Link: 33790381

Variant Present in the following documents:

• Main text

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: PAH: G272X

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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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: 814G>T; Gly272Ter

PubMed Link: 33375644

Variant Present in the following documents:

• Main text
• genes-12-00020.pdf

View BVdb publication page

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Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance.

Molecular Genetics And Metabolism Reports

Kreile, M M; Lubina, O O; Ozola-Zalite, I I; Lugovska, R R; Pronina, N N; Sterna, O O; Vevere, P P; Konika, M M; Malniece, I I; Gailite, L L

Publication Date: 2020-12

Variant appearance in text: PAH: 814G>T; Gly272Ter

PubMed Link: 33101986

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.

American Journal Of Human Genetics

Roman, Tamara S TS; Crowley, Stephanie B SB; Roche, Myra I MI; Foreman, Ann Katherine M AKM; O'Daniel, Julianne M JM; Seifert, Bryce A BA; Lee, Kristy K; Brandt, Alicia A; Gustafson, Chelsea C; DeCristo, Daniela M DM; Strande, Natasha T NT; Ramkissoon, Lori L; Milko, Laura V LV; Owen, Phillips P; Roy, Sayanty S; Xiong, Mai M; Paquin, Ryan S RS; Butterfield, Rita M RM; Lewis, Megan A MA; Souris, Katherine J KJ; Bailey, Donald B DB; Rini, Christine C; Booker, Jessica K JK; Powell, Bradford C BC; Weck, Karen E KE; Powell, Cynthia M CM; Berg, Jonathan S JS

Publication Date: 2020-10-01

Variant appearance in text: PAH: 814G>T

PubMed Link: 32853555

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: G272X

PubMed Link: 32106880

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1329.pdf

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: PAH: 814G>T; Gly272*

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.

Molecular Genetics & Genomic Medicine

Akler, Gidon G; Birch, Ashley H AH; Schreiber-Agus, Nicole N; Cai, Xiaoqiang X; Cai, Guiqing G; Shi, Lisong L; Yu, Chunli C; Larmore, Anastasia M AM; Mendiratta-Vij, Geetu G; Elkhoury, Lama L; Dillon, Mitchell W MW; Zhu, Jun J; Mclellan, Andrew S AS; Suer, Funda E FE; Webb, Bryn D BD; Schadt, Eric E EE; Kornreich, Ruth R; Edelmann, Lisa L

Publication Date: 2020-02

Variant appearance in text: PAH: 814G>T; G272X

PubMed Link: 31880409

Variant Present in the following documents:

• MGG3-8-e1053-s002.xlsx, sheet 1
• MGG3-8-e1053-s001.xlsx, sheet 1

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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: 814G>T; Gly272Ter

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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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: 814G>T; Gly272*; rs62514952

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Analysis of EX5del4232ins268 and EX5del955 PAH gene mutations in Ukrainian patients with phenylketonuria.

Genes & Diseases

Pampukha, Volodymyr V; Nechyporenko, Maryna M; Livshyts, Ludmila L

Publication Date: 2017-06

Variant appearance in text: PAH: G272X

PubMed Link: 30258912

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels.

Journal Of Nutrition And Metabolism

Ahring, Kirsten K KK; Lund, Allan M AM; Jensen, Erik E; Jensen, Thomas G TG; Brøndum-Nielsen, Karen K; Pedersen, Michael M; Bardow, Allan A; Holst, Jens Juul JJ; Rehfeld, Jens F JF; Møller, Lisbeth B LB

Publication Date: 2018

Variant appearance in text: PAH: 814G>T; G272X

PubMed Link: 29511574

Variant Present in the following documents:

• JNME2018-6352919.pdf

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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: 814G>T; rs62514952

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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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: PAH: 814G>T; Gly272Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: Gly272*

PubMed Link: 26666653

Variant Present in the following documents:

• Main text
• 13023_2015_Article_375.pdf

View BVdb publication page

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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: 814G>T; Gly272*

PubMed Link: 24939588

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 814G>T; G272*

PubMed Link: 24368688

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: G272*

PubMed Link: 23842451

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: G272X

PubMed Link: 23430918

Variant Present in the following documents:

• Main text

View BVdb publication page

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An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Lazarin, Gabriel A GA; Haque, Imran S IS; Nazareth, Shivani S; Iori, Kevin K; Patterson, A Scott AS; Jacobson, Jessica L JL; Marshall, John R JR; Seltzer, William K WK; Patrizio, Pasquale P; Evans, Eric A EA; Srinivasan, Balaji S BS

Publication Date: 2013-03

Variant appearance in text: PAH: G272X

PubMed Link: 22975760

Variant Present in the following documents:

• gim2012114x1.pdf

View BVdb publication page

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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: G272X

PubMed Link: 22841515

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 814G>T; G272X

PubMed Link: 21445337

Variant Present in the following documents:

• Main text

View BVdb publication page

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Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.

Journal Of Inherited Metabolic Disease

Krijt, Jakub J; Kopecká, Jana J; Hnízda, Aleš A; Moat, Stuart S; Kluijtmans, Leo A J LA; Mayne, Philip P; Kožich, Viktor V

Publication Date: 2011-02

Variant appearance in text: PAH: G272X

PubMed Link: 20821054

Variant Present in the following documents:

• 10545_2011_Article_9371.pdf

View BVdb publication page

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