Publications:

---

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: 842+1G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.

Npj Genomic Medicine

Hu, Ping P; Tan, Jianxin J; Yu, Feng F; Shao, Binbin B; Zhang, Fang F; Zhang, Jingjing J; Lin, Yingchun Y; Tao, Tao T; Jiang, Lili L; Jiang, Zhengwen Z; Xu, Zhengfeng Z

Publication Date: 2022-01-25

Variant appearance in text: PAH: 842+1G>A

PubMed Link: 35079019

Variant Present in the following documents:

• 41525_2021_280_MOESM1_ESM.pdf

View BVdb publication page

---

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: 842+1G>A

PubMed Link: 34251446

Variant Present in the following documents:

• jamanetwopen-e2114155-s001.pdf

View BVdb publication page

---

Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology.

Bioscience Reports

Qiang, Rong R; Wang, Lin L; He, JinHua J; Xu, Wei Jie WJ; Li, Wei W; Cai, Na N; Wang, Xiao Bin XB; Zhang, RuiXue R; Zhang, Li Ping LP; Ma, Xiao Ping XP; Wei, Chen C; Song, ChengRong C; Yu, WenWen W; Wang, Xiang X; Li, Xu X

Publication Date: 2021-02-26

Variant appearance in text: PAH: 842+1G>A

PubMed Link: 33564846

Variant Present in the following documents:

• Main text
• bsr-41-bsr20201660.pdf

View BVdb publication page

---

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: 842+1G>A

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

---

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: 842+1G>A

PubMed Link: 33465300

Variant Present in the following documents:

• Main text
• MGG3-9-e1559.pdf

View BVdb publication page

---

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: 842+1G>A

PubMed Link: 33375644

Variant Present in the following documents:

• Main text
• genes-12-00020.pdf

View BVdb publication page

---

Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.

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

Alaimo, Joseph T JT; Glinton, Kevin E KE; Liu, Ning N; Xiao, Jing J; Yang, Yaping Y; Reid Sutton, V V; Elsea, Sarah H SH

Publication Date: 2020-09

Variant appearance in text: PAH: 842+1G>A

PubMed Link: 32439973

Variant Present in the following documents:

• Main text
• NIHMS1603460-supplement-Supplemental_Data.xlsx, sheet 2
• nihms-1603460.pdf

View BVdb publication page

---

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: 842+1G>A

PubMed Link: 32371905

Variant Present in the following documents:

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

View BVdb publication page

---

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: 842+1G>A

PubMed Link: 31832098

Variant Present in the following documents:

• 13039_2019_459_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 842+1G>A

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

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: 842+1G>A; rs5030852

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

---

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: 842+1G>A

PubMed Link: 31164572

Variant Present in the following documents:

• Main text
• mps-01-00030.pdf

View BVdb publication page

---

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: 842+1G>A

PubMed Link: 30829006

Variant Present in the following documents:

• Main text
• MGG3-7-e610.pdf

View BVdb publication page

---

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.

Scientific Reports

Chen, Ting T; Xu, Weize W; Wu, Dingwen D; Han, Jiamin J; Zhu, Ling L; Tong, Fan F; Yang, Rulai R; Zhao, Zhengyan Z; Jiang, Pingping P; Shu, Qiang Q

Publication Date: 2018-11-20

Variant appearance in text: PAH: 842+1G>A

PubMed Link: 30459323

Variant Present in the following documents:

• 41598_2018_35373_MOESM1_ESM.pdf

View BVdb publication page

---

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: 842+1G>A

PubMed Link: 30375370

Variant Present in the following documents:

• medscimonit-24-7759.pdf

View BVdb publication page

---

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: 842+1G>A

PubMed Link: 29749107

Variant Present in the following documents:

• Main text
• MGG3-6-575.pdf

View BVdb publication page

---

Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

Bmc Medical Genetics

Liu, Ning N; Huang, Qiuying Q; Li, Qingge Q; Zhao, Dehua D; Li, Xiaole X; Cui, Lixia L; Bai, Ying Y; Feng, Yin Y; Kong, Xiangdong X

Publication Date: 2018-01-09

Variant appearance in text: PAH: 842+1G>A

PubMed Link: 29316886

Variant Present in the following documents:

• 12881_2017_Article_516.pdf

View BVdb publication page

---

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: N/A

PubMed Link: 29273096

Variant Present in the following documents:

View BVdb publication page

---

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: 842+1G>A

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age.

Jimd Reports

Burgard, P P; Mönch, E E; Zschocke, J J; Wendel, U U; Langenbeck, U U; ,

Publication Date: 2016

Variant appearance in text: PAH: 842+1G>A

PubMed Link: 26683466

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).

Jimd Reports

Al-Jasmi, Fatma A FA; Al-Shamsi, Aisha A; Hertecant, Jozef L JL; Al-Hamad, Sania M SM; Souid, Abdul-Kader AK

Publication Date: 2016

Variant appearance in text: PAH: 842+1G>A

PubMed Link: 26589311

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.

Plos One

Gu, Ying Y; Lu, Kangmo K; Yang, Guanghui G; Cen, Zhong Z; Yu, Li L; Lin, Lin L; Hao, Jing J; Yang, Zhigang Z; Peng, Jiabao J; Cui, Shujian S; Huang, Jian J

Publication Date: 2014

Variant appearance in text: PAH: 842+1G>A

PubMed Link: 24705691

Variant Present in the following documents:

• Main text
• pone.0094100.s009.xlsx, sheet 1

View BVdb publication page

---

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: 842+1G>A

PubMed Link: 23842451

Variant Present in the following documents:

• Main text
• 1750-1172-8-103.pdf

View BVdb publication page

---

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: 842+1G>A

PubMed Link: 23430918

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.

Genetic Testing And Molecular Biomarkers

Ben-Rebeh, Imen I; Hertecant, Jozef L JL; Al-Jasmi, Fatma A FA; Aburawi, Hanan E HE; Al-Yahyaee, Said A SA; Al-Gazali, Lihadh L; Ali, Bassam R BR

Publication Date: 2012-05

Variant appearance in text: PAH: 842+1G>A

PubMed Link: 22106832

Variant Present in the following documents:

• Main text

View BVdb publication page

---