Publications:

---

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: 782G>C

PubMed Link: 37308610

Variant Present in the following documents:

• 41598_2023_Article_36550.pdf

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: rs5030849

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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: PAH: 782G>C; rs5030849

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Bmc Medical Genomics

Gal, Moran M; Khermesh, Khen K; Barak, Michal M; Lin, Min M; Lahat, Hadas H; Reznik Wolf, Haike H; Lin, Michael M; Pras, Elon E; Levanon, Erez Y EY

Publication Date: 2016-05-13

Variant appearance in text: PAH: R261P

PubMed Link: 27175728

Variant Present in the following documents:

• Main text
• 12920_2016_Article_184.pdf
• 12920_2016_184_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.

Plos Genetics

de Voer, Richarda M RM; Hahn, Marc-Manuel MM; Weren, Robbert D A RD; Mensenkamp, Arjen R AR; Gilissen, Christian C; van Zelst-Stams, Wendy A WA; Spruijt, Liesbeth L; Kets, C Marleen CM; Zhang, Junxiao J; Venselaar, Hanka H; Vreede, Lilian L; Schubert, Nil N; Tychon, Marloes M; Derks, Ronny R; Schackert, Hans K HK; Geurts van Kessel, Ad A; Hoogerbrugge, Nicoline N; Ligtenberg, Marjolijn J L MJ; Kuiper, Roland P RP

Publication Date: 2016-02

Variant appearance in text: rs5030849

PubMed Link: 26901136

Variant Present in the following documents:

• pgen.1005880.s003.xlsx, sheet 1

View BVdb publication page

---

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: Arg261Pro

PubMed Link: 26666653

Variant Present in the following documents:

• Main text
• 13023_2015_Article_375.pdf

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs5030849

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: R261P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

---

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: rs5030849

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM1_ESM.xls, 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: R261P

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: R261P

PubMed Link: 23430918

Variant Present in the following documents:

• Main text

View BVdb publication page

---