Alan H Beggs

发表

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

Jinkuk Kim, Annapurna Poduri, P Ellen Grant, 2019, The New England journal of medicine.

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

Nasim Vasli, Jocelyn Laporte, Alan H Beggs, 2013, Neurology.

Analysis of skeletal muscle defects in larval zebrafish by birefringence and touch-evoke escape response assays.

Alan H Beggs, A. Beggs, Laura L Smith, 2013, Journal of visualized experiments : JoVE.

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.

C Conover Talbot, Jeanne Kowalski, Alan H Beggs, 2008, Blood.

Defective Ribosomal Protein Gene Expression Alters Transcription, Translation, Apoptosis, and Oncogenic Pathways in Diamond‐Blackfan Anemia

Isaac S Kohane, Alan H Beggs, Despina Sanoudou, 2006, Stem cells.

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

Alan H Beggs, Pierre-Emmanuel Gleizes, Joerg J Meerpohl, 2008, American journal of human genetics.

Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy

Jocelyn Laporte, Luciano Merlini, Christophe Béroud, 2012, Human mutation.

Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction.

Mohamed Chahine, Alan H Beggs, Hai Huang, 2010, Biochemistry.

Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice.

Fujun Liu, Lin Yang, Alan H Beggs, 2014, The American journal of pathology.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Kathryn N North, Francesco Muntoni, Taru Tukiainen, 2016 .

Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports

Yiping Shen, Va Lip, Catherine A Brownstein, 2016, American journal of medical genetics. Part A.

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene

Alan H Beggs, Bianca Haase, G Diane Shelton, 2015, Skeletal Muscle.

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.

Frank B Sachse, Alan H Beggs, Michael C Sanguinetti, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

Catherine A Brownstein, Alan H Beggs, Timothy W Yu, 2019, European Journal of Human Genetics.

Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle

Isaac S Kohane, Steven A Greenberg, Alan H Beggs, 2003, Proceedings of the National Academy of Sciences of the United States of America.