Publications by authors named "David Meili"

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Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application.
Alessio Cremonesi, David Meili, Anahita Rassi, Martin Poms, Barbara Tavazzi

Clin Chem Lab Med· September 2023

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Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Yair Anikster, Tobias B Haack, Thierry Vilboux, Ben Pode-Shakked, Beat Thöny, David Meili

Am J Hum Genet· February 2017

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Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis.
Shanti Balasubramaniam, Barry Lewis, Lawrence Greed, David Meili, Annegret Flier

JIMD Rep· November 2015

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Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene.
Dea Adamsen, Vincent Ramaekers, Horace Tb Ho, Corinne Britschgi, Véronique Rüfenacht, David Meili

Mol Autism· March 2015

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Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency.
Sandra Brasil, Hiu Man Viecelli, David Meili, Anahita Rassi, Lourdes R Desviat

Hum Mutat· September 2011

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Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants.
Dea Adamsen, David Meili, Nenad Blau, Beat Thöny, Vincent Ramaekers

Mol Genet Metab· March 2011

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Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.
Iva Karacić, David Meili, Vladimir Sarnavka, Caroline Heintz, Beat Thöny

Mol Genet Metab· July 2009

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Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.
David Meili, Jana Kralovicova, Julian Zagalak, Luisa Bonafé, Laura Fiori

Hum Mutat· May 2009

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The short coiled-coil domain-containing protein UNC-69 cooperates with UNC-76 to regulate axonal outgrowth and normal presynaptic organization in Caenorhabditis elegans.
Cheng-Wen Su, Suzanne Tharin, Yishi Jin, Bruce Wightman, Mona Spector, David Meili

J Biol· August 2006

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Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study.
Betina Fiege, Luisa Bonafé, Diana Ballhausen, Matthias Baumgartner, Beat Thöny, David Meili

Mol Genet Metab· December 2005

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