A. Lam

发表

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

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

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

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

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.

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.

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.

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.

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

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

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.

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

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

Biallelic mutations in human DCC cause developmental split-brain syndrome

E. Lein, P. Grant, A. Barkovich, 2017, Nature Genetics.

Biallelic Mutations In Human DCC Cause Developmental Split Brain Syndrome

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

Somatic mutations in cerebral cortical malformations.

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

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

Anh Lam, A. Lam, 2019 .

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 NH2 terminus of connexin 46.

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

Transcriptome analysis of human induced excitatory neurons supports a strong effect of clozapine on cholesterol biosynthesis

J. Bader, D. Avramopoulos, Xi Peng, 2020, Schizophrenia Research.

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.

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

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