Publications:

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Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.

Pediatric Research

Ziats, Mark N MN; Ahmad, Ayesha A; Bernat, John A JA; Fisher, Rachel R; Glassford, Megan M; Hannibal, Mark C MC; Jacher, Joseph E JE; Weiser, Natasha N; Keegan, Catherine E CE; Lee, Kristen N KN; Marzulla, Tessa B TB; O'Connor, Bridget C BC; Quinonez, Shane C SC; Seemann, Lauren L; Turner, Lauren L; Bielas, Stephanie S; Harris, Nicholas L NL; Ogle, Jacob D JD; Innis, Jeffrey W JW; Martin, Donna M DM

Publication Date: 2020-03

Variant appearance in text: PC: 808C>T; Arg270*

PubMed Link: 31618753

Variant Present in the following documents:

• nihms-1541080.pdf

View BVdb publication page

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Transcriptome level analysis in Rett syndrome using human samples from different tissues.

Orphanet Journal Of Rare Diseases

Shovlin, Stephen S; Tropea, Daniela D

Publication Date: 2018-07-11

Variant appearance in text: PC: 808C>T; R270X

PubMed Link: 29996871

Variant Present in the following documents:

• Main text
• 13023_2018_Article_857.pdf

View BVdb publication page

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Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis.

Molecular Genetics And Metabolism Reports

Habarou, F F; Brassier, A A; Rio, M M; Chrétien, D D; Monnot, S S; Barbier, V V; Barouki, R R; Bonnefont, J P JP; Boddaert, N N; Chadefaux-Vekemans, B B; Le Moyec, L L; Bastin, J J; Ottolenghi, C C; de Lonlay, P P

Publication Date: 2015-03

Variant appearance in text: PC: 808C>T; Arg270Trp

PubMed Link: 28649521

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Journal Of Translational Medicine

Pronicka, Ewa E; Piekutowska-Abramczuk, Dorota D; Ciara, Elżbieta E; Trubicka, Joanna J; Rokicki, Dariusz D; Karkucińska-Więckowska, Agnieszka A; Pajdowska, Magdalena M; Jurkiewicz, Elżbieta E; Halat, Paulina P; Kosińska, Joanna J; Pollak, Agnieszka A; Rydzanicz, Małgorzata M; Stawinski, Piotr P; Pronicki, Maciej M; Krajewska-Walasek, Małgorzata M; Płoski, Rafał R

Publication Date: 2016-06-12

Variant appearance in text: PC: 808C>T; Arg270Trp

PubMed Link: 27290639

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: PC: R270W

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: PC: R270W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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