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: 473G>A

PubMed Link: 37308610

Variant Present in the following documents:

• 41598_2023_Article_36550.pdf

View BVdb publication page

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Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.

Orphanet Journal Of Rare Diseases

Zhang, Chuan C; Yan, Yousheng Y; Zhou, Bingbo B; Wang, Yupei Y; Tian, Xinyuan X; Hao, Shengju S; Ma, Panpan P; Zheng, Lei L; Zhang, Qinghua Q; Hui, Ling L; Wang, Yan Y; Cao, Zongfu Z; Ma, Xu X

Publication Date: 2023-05-26

Variant appearance in text: PAH: 473G>A

PubMed Link: 37237386

Variant Present in the following documents:

• Main text
• 13023_2023_Article_2742.pdf

View BVdb publication page

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PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania.

Diagnostics (Basel, Switzerland)

Iuhas, Alin A; Jurca, Claudia C; Kozma, Kinga K; Riza, Anca-Lelia AL; Streață, Ioana I; Petcheși, Codruța C; Dan, Andra A; Sava, Cristian C; Balmoș, Andreea A; Marinău, Cristian C; Niulaș, Larisa L; Ioana, Mihai M; Bembea, Marius M

Publication Date: 2023-04-20

Variant appearance in text: PAH: Arg158Gln

PubMed Link: 37189584

Variant Present in the following documents:

• Main text
• diagnostics-13-01483.pdf

View BVdb publication page

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Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders.

Genes

Senarathne, Udara D UD; Indika, Neluwa-Liyanage R NR; Jezela-Stanek, Aleksandra A; Ciara, Elżbieta E; Frye, Richard E RE; Chen, Cliff C; Stepien, Karolina M KM

Publication Date: 2023-03-27

Variant appearance in text: PAH: 473G>A

PubMed Link: 37107561

Variant Present in the following documents:

• genes-14-00803.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: Arg158Gln

PubMed Link: 36537053

Variant Present in the following documents:

• Main text
• EDM2-6-e396.pdf

View BVdb publication page

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Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population.

Frontiers In Genetics

Zhang, Hong H; Wang, Yanyun Y; Qiu, Yali Y; Zhang, Chao C

Publication Date: 2022

Variant appearance in text: PAH: 473G>A

PubMed Link: 36246604

Variant Present in the following documents:

• Main text
• fgene-13-801447.pdf

View BVdb publication page

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Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.

Molecular Biology Reports

Zhou, Jinfu J; Zeng, Yinglin Y; Qiu, Xiaolong X; Lin, Qingying Q; Chen, Weifeng W; Luo, Jinying J; Xu, Liangpu L

Publication Date: 2022-11

Variant appearance in text: PAH: Arg158Gln

PubMed Link: 36104584

Variant Present in the following documents:

• Main text
• 11033_2022_Article_7579.pdf

View BVdb publication page

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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: R158Q

PubMed Link: 36046396

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.

Journal Of Personalized Medicine

Sotnikova, Evgeniia A EA; Kiseleva, Anna V AV; Kutsenko, Vladimir A VA; Zharikova, Anastasia A AA; Ramensky, Vasily E VE; Divashuk, Mikhail G MG; Vyatkin, Yuri V YV; Klimushina, Marina V MV; Ershova, Alexandra I AI; Revazyan, Karina Z KZ; Skirko, Olga P OP; Zaicenoka, Marija M; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Kopylova, Oksana V OV; Glechan, Anush M AM; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM

Publication Date: 2022-07-12

Variant appearance in text: rs5030843

PubMed Link: 35887629

Variant Present in the following documents:

• Main text
• jpm-12-01132.pdf

View BVdb publication page

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Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes.

Genome Medicine

Goel, Anshita A; Ward, Douglas G DG; Noyvert, Boris B; Yu, Minghao M; Gordon, Naheema S NS; Abbotts, Ben B; Colbourne, John K JK; Kissane, Stephen S; James, Nicholas D ND; Zeegers, Maurice P MP; Cheng, Kar Keung KK; Cazier, Jean-Baptiste JB; Whalley, Celina M CM; Beggs, Andrew D AD; Palles, Claire C; Arnold, Roland R; Bryan, Richard T RT

Publication Date: 2022-06-03

Variant appearance in text: PAH: 473G>A; Arg158Gln; rs5030843

PubMed Link: 35655252

Variant Present in the following documents:

• 13073_2022_1056_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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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: 473G>A

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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Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria.

Nutrients

Scala, Iris I; Concolino, Daniela D; Nastasi, Anna A; Esposito, Giulia G; Crisci, Daniela D; Sestito, Simona S; Ferraro, Stefania S; Albano, Lucia L; Ruoppolo, Margherita M; Parenti, Giancarlo G; Strisciuglio, Pietro P

Publication Date: 2021-11-10

Variant appearance in text: PAH: R158Q

PubMed Link: 34836270

Variant Present in the following documents:

• Main text
• nutrients-13-04012.pdf

View BVdb publication page

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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: Arg158Gln

PubMed Link: 34828281

Variant Present in the following documents:

• Main text

View BVdb publication page

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Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing.

Bmc Medical Genomics

Chen, Chao C; Chen, Min M; Zhu, Yaping Y; Jiang, Lu L; Li, Jia J; Wang, Yaoshen Y; Lu, Zhe Z; Guo, Fengyu F; Wang, Hairong H; Peng, Zhiyu Z; Yang, Yun Y; Sun, Jun J

Publication Date: 2021-10-09

Variant appearance in text: PAH: 473G>A

PubMed Link: 34627256

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1091.pdf

View BVdb publication page

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Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Scientific Reports

Nastase, Anca A; Mandal, Amit A; Lu, Shir Kiong SK; Anbunathan, Hima H; Morris-Rosendahl, Deborah D; Zhang, Yu Zhi YZ; Sun, Xiao-Ming XM; Gennatas, Spyridon S; Rintoul, Robert C RC; Edwards, Matthew M; Bowman, Alex A; Chernova, Tatyana T; Benepal, Tim T; Lim, Eric E; Taylor, Anthony Newman AN; Nicholson, Andrew G AG; Popat, Sanjay S; Willis, Anne E AE; MacFarlane, Marion M; Lathrop, Mark M; Bowcock, Anne M AM; Moffatt, Miriam F MF; Cookson, William O C M WOCM

Publication Date: 2021-09-27

Variant appearance in text: PAH: 473G>A; Arg158Gln; rs5030843

PubMed Link: 34580349

Variant Present in the following documents:

• 41598_2021_98414_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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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: R158Q

PubMed Link: 33868932

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels.

Frontiers In Genetics

Shestak, Anna G AG; Bukaeva, Anna A AA; Saber, Siamak S; Zaklyazminskaya, Elena V EV

Publication Date: 2021

Variant appearance in text: PAH: Arg158Gln

PubMed Link: 33633783

Variant Present in the following documents:

• Main text
• fgene-12-620337.pdf

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: R158Q

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 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: 473G>A; Arg158Gln

PubMed Link: 33465300

Variant Present in the following documents:

• Main text
• MGG3-9-e1559.pdf

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: 473G>A; Arg158Gln

PubMed Link: 33375644

Variant Present in the following documents:

• Main text
• genes-12-00020-s001.pdf
• 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: 473G>A; Arg158Gln

PubMed Link: 33101986

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Journal Of Personalized Medicine

Kiseleva, Anna V AV; Klimushina, Marina V MV; Sotnikova, Evgeniia A EA; Divashuk, Mikhail G MG; Ershova, Alexandra I AI; Skirko, Olga P OP; Kurilova, Olga V OV; Zharikova, Anastasia A AA; Khlebus, Eleonora Yu EY; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Slominsky, Petr A PA; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM

Publication Date: 2020-09-22

Variant appearance in text: PAH: 473G>A; R158Q; rs5030843

PubMed Link: 32971794

Variant Present in the following documents:

• jpm-10-00140-s001.pdf

View BVdb publication page

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The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria.

Nutrients

Burlina, Alessandro P AP; Cazzorla, Chiara C; Massa, Pamela P; Loro, Christian C; Gueraldi, Daniela D; Burlina, Alberto B AB

Publication Date: 2020-07-14

Variant appearance in text: PAH: 473G>A

PubMed Link: 32674279

Variant Present in the following documents:

• Main text
• nutrients-12-02078.pdf

View BVdb publication page

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The Genetic Landscape and Epidemiology of Phenylketonuria.

American Journal Of Human Genetics

Hillert, Alicia A; Anikster, Yair Y; Belanger-Quintana, Amaya A; Burlina, Alberto A; Burton, Barbara K BK; Carducci, Carla C; Chiesa, Ana E AE; Christodoulou, John J; Đorđević, Maja M; Desviat, Lourdes R LR; Eliyahu, Aviva A; Evers, Roeland A F RAF; Fajkusova, Lena L; Feillet, François F; Bonfim-Freitas, Pedro E PE; Giżewska, Maria M; Gundorova, Polina P; Karall, Daniela D; Kneller, Katya K; Kutsev, Sergey I SI; Leuzzi, Vincenzo V; Levy, Harvey L HL; Lichter-Konecki, Uta U; Muntau, Ania C AC; Namour, Fares F; Oltarzewski, Mariusz M; Paras, Andrea A; Perez, Belen B; Polak, Emil E; Polyakov, Alexander V AV; Porta, Francesco F; Rohrbach, Marianne M; Scholl-Bürgi, Sabine S; Spécola, Norma N; Stojiljković, Maja M; Shen, Nan N; Santana-da Silva, Luiz C LC; Skouma, Anastasia A; van Spronsen, Francjan F; Stoppioni, Vera V; Thöny, Beat B; Trefz, Friedrich K FK; Vockley, Jerry J; Yu, Youngguo Y; Zschocke, Johannes J; Hoffmann, Georg F GF; Garbade, Sven F SF; Blau, Nenad N

Publication Date: 2020-08-06

Variant appearance in text: PAH: Arg158Gln

PubMed Link: 32668217

Variant Present in the following documents:

• Main text

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: 473G>A; rs5030843

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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Large Neutral Amino Acids (LNAAs) Supplementation Improves Neuropsychological Performances in Adult Patients with Phenylketonuria.

Nutrients

Scala, Iris I; Riccio, Maria Pia MP; Marino, Maria M; Bravaccio, Carmela C; Parenti, Giancarlo G; Strisciuglio, Pietro P

Publication Date: 2020-04-15

Variant appearance in text: PAH: R158Q

PubMed Link: 32326614

Variant Present in the following documents:

• Main text
• nutrients-12-01092.pdf

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: PAH: R158Q

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

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: R158Q

PubMed Link: 32106880

Variant Present in the following documents:

• Main text

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: 473G>A; Arg158Gln

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.

International Journal Of Molecular Sciences

Zinchenko, Rena A RA; Makaov, Amin Kh AK; Marakhonov, Andrey V AV; Galkina, Varvara A VA; Kadyshev, Vitaly V VV; El'chinova, Galina I GI; Dadali, Elena L EL; Mikhailova, Lyudmila K LK; Petrova, Nika V NV; Petrina, Nina E NE; Vasilyeva, Tatyana A TA; Gundorova, Polina P; Polyakov, Alexander V AV; Alexandrova, Oksana Y OY; Kutsev, Sergey I SI; Ginter, Eugeny K EK

Publication Date: 2020-01-03

Variant appearance in text: PAH: 473G>A; R158Q

PubMed Link: 31947737

Variant Present in the following documents:

• Main text
• ijms-21-00325.pdf

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: 473G>A; R158Q

PubMed Link: 31880409

Variant Present in the following documents:

• MGG3-8-e1053-s001.xlsx, sheet 1
• MGG3-8-e1053-s002.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: 473G>A; Arg158Gln

PubMed Link: 31783775

Variant Present in the following documents:

• Main text
• 13073_2019_683_MOESM2_ESM.xlsx, sheet 9
• 13073_2019_683_MOESM2_ESM.xlsx, sheet 8
• 13073_2019_Article_683.pdf

View BVdb publication page

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Large Neutral Amino Acid Therapy Increases Tyrosine Levels in Adult Patients with Phenylketonuria: A Long-Term Study.

Nutrients

Burlina, Alessandro P AP; Cazzorla, Chiara C; Massa, Pamela P; Polo, Giulia G; Loro, Christian C; Gueraldi, Daniela D; Burlina, Alberto B AB

Publication Date: 2019-10-21

Variant appearance in text: PAH: 473G>A

PubMed Link: 31640267

Variant Present in the following documents:

• Main text
• nutrients-11-02541.pdf

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: 473G>A; rs5030843

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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: 473G>A; R158Q

PubMed Link: 31355225

Variant Present in the following documents:

• Main text

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: PAH: 473G>A; Arg158Gln

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test.

Methods And Protocols

Tolve, Manuela M; Artiola, Cristiana C; Pasquali, Amelia A; Giovanniello, Teresa T; D'Amici, Sirio S; Angeloni, Antonio A; Pizzuti, Antonio A; Carducci, Claudia C; Leuzzi, Vincenzo V; Carducci, Carla C

Publication Date: 2018-08-16

Variant appearance in text: PAH: 473G>A; Arg158Gln

PubMed Link: 31164572

Variant Present in the following documents:

• Main text

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The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records.

Molecular Genetics And Metabolism Reports

Lilleväli, Hardo H; Reinson, Karit K; Muru, Kai K; Saarsalu, Siret S; Künnapas, Kadi K; Kahre, Tiina T; Murumets, Ülle Ü; Õunap, Katrin K

Publication Date: 2019-06

Variant appearance in text: PAH: R158Q

PubMed Link: 30963030

Variant Present in the following documents:

• Main text
• main.pdf

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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: 473G>A; Arg158Gln

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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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: 473G>A; R158Q

PubMed Link: 30829006

Variant Present in the following documents:

• MGG3-7-e610.pdf

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