Anh Lam

发表

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

Michael E. Coulter, C. Walsh, S. Wiemann, 2017, Genome research.

SLC26A9 SNP rs7512462 is not associated with lung disease severity or lung function response to ivacaftor in cystic fibrosis patients with G551D-CFTR.

G. Cutting, M. Knowles, M. Aksit, 2021, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis.

M. Rosenfeld, M. Bamshad, K. Hetrick, 2022, American journal of human genetics.

Properties of two cataract-associated mutations located in the NH2 terminus of connexin 46.

D. Walters, L. Ebihara, J. Tong, 2012, American journal of physiology. Cell physiology.

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder

C. Walsh, M. Greenberg, T. Yu, 2020, Scientific Reports.

Increased expression of anion transporter SLC26A9 delays diabetes onset in cystic fibrosis.

L. Goff, G. Cutting, M. Aksit, 2019, The Journal of clinical investigation.

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

C. Walsh, N. Šestan, S. Jamuar, 2015, Neuron.

Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.

Briana Vecchio-Pagan, S. E. Stanley, G. Cutting, 2017, American journal of human genetics.

Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis

C. Merlo, G. Cutting, P. Sosnay, 2018, PLoS genetics.

Somatic mutations in cerebral cortical malformations.

J. Shendure, I. Scheffer, C. Walsh, 2014, The New England journal of medicine.

CRISPR Del/Rei: a simple, flexible, and efficient pipeline for scarless genome editing

D. Avramopoulos, S. Abdollahi, Eman Rabie, 2021, Scientific Reports.

Biallelic Mutations In Human DCC Cause Developmental Split Brain Syndrome

C. Walsh, E. Lein, P. Grant, 2017, Nature Genetics.

MOLECULAR CHARACTERIZATION OF SLC26A9 AND EVALUATION OF ITS POTENTIAL ROLE AS A MODIFIER OF CYSTIC FIBROSIS

Anh Lam, A. Lam, 2019 .

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

C. Walsh, L. Zon, A. Munnich, 2014, American journal of human genetics.

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

Masahiko Watanabe, A. Barkovich, J. Stoler, 2013, Neurology.

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

R. Deberardinis, D. Housman, A. Barkovich, 2016, Proceedings of the National Academy of Sciences.

Properties of Two Cataract Associated Mutations Located in the N-Terminus of Connexin46

D. Walters, L. Ebihara, J. Tong, 2012 .