Publications:

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Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics

Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF

Publication Date: 2023-02-28

Variant appearance in text: PAH: 967_969del

PubMed Link: 36855133

Variant Present in the following documents:

• 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.

Jimd Reports

Carducci, Carla C; Amayreh, Wajdi W; Ababneh, Haneen H; Mahasneh, Amjad A; Al Rababah, Buthaina B; Al Qaqa, Kefah K; Al Aqeel, Momen M; Artiola, Cristiana C; Tolve, Manuela M; D'Amici, Sirio S; Shen, Nan N; Yu, Yongguo Y; Hillert, Alicia A; Himmelreich, Nastassja N; Okun, Jürgen G JG; Hoffmann, Georg F GF; Blau, Nenad N

Publication Date: 2020-09

Variant appearance in text: PAH: Thr323del

PubMed Link: 32905092

Variant Present in the following documents:

• Main text
• JMD2-55-59.pdf

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: 967_969delACA; T323del

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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Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

Nutrients

van Vliet, Danique D; van Wegberg, Annemiek M J AMJ; Ahring, Kirsten K; Bik-Multanowski, Miroslaw M; Casas, Kari K; Didycz, Bozena B; Djordjevic, Maja M; Hertecant, Jozef L JL; Leuzzi, Vincenzo V; Mathisen, Per P; Nardecchia, Francesca F; Powell, Kimberly K KK; Rutsch, Frank F; Stojiljkovic, Maja M; Trefz, Fritz K FK; Usurelu, Natalia N; Wilson, Callum C; van Karnebeek, Clara D CD; Hanley, William B WB; van Spronsen, Francjan J FJ

Publication Date: 2019-10-25

Variant appearance in text: PAH: 967_969del; T323del

PubMed Link: 31731404

Variant Present in the following documents:

• nutrients-11-02572-s001.pdf

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: 967_969delACA; T323del

PubMed Link: 30829006

Variant Present in the following documents:

• Main text
• MGG3-7-e610.pdf

View BVdb publication page

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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: 967_969delACA; T323del

PubMed Link: 30375370

Variant Present in the following documents:

• medscimonit-24-7759.pdf

View BVdb publication page

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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: 967_969delACA; T323del

PubMed Link: 29749107

Variant Present in the following documents:

• Main text
• MGG3-6-575.pdf

View BVdb publication page

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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: T323del

PubMed Link: 27175728

Variant Present in the following documents:

• 12920_2016_184_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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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: 967_969delACA; T323del

PubMed Link: 26589311

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: 967_969delACA; T323del

PubMed Link: 23430918

Variant Present in the following documents:

• Main text

View BVdb publication page

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