A. Johnson

发表

Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX

Soma Das, S. Topper, C. Shoubridge, 2015, European Journal of Human Genetics.

Evaluation of laboratory perspectives on hereditary cancer panels

J. Stoll, S. Weissman, A. Newlin, 2016, Familial Cancer.

Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes

N. Young, G. Alkorta-Aranburu, D. del Gaudio, 2017, Leukemia.

Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants

Lora J. H. Bean, D. Arjona, Laura M. Sack, 2019, Genetics in Medicine.

Next-Generation Sequencing for the Diagnosis of Monogenic Disorders of Insulin Secretion

S. Greeley, D. Gaudio, A. Johnson, 2017 .

Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach

Soma Das, G. Alkorta-Aranburu, D. del Gaudio, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties

Danielle R Azzariti, B. Lepore, Julianne M. O’Daniel, 2019, Genetics in Medicine.

Clinical utility of next-generation sequencing for the molecular diagnosis of monogenic diabetes.

D. Gaudio, A. Johnson, 2014, Personalized medicine.

Evaluation of laboratory perspectives on hereditary cancer panels

J. Stoll, S. Weissman, A. Newlin, 2016, Familial Cancer.

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

Soma Das, M. Burmeister, C. Gomez, 2018, Genetics in Medicine.

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

Soma Das, G. Vezina, M. Summar, 2015, Journal of Human Genetics.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Inflammatory pseudotumor of the heart caused by Listeria monocytogenes infection.

S. Shulman, Xiaotian Zheng, A. Adler, 2009, The Journal of infection.

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

Soma Das, M. Burmeister, C. Gomez, 2018, Genetics in Medicine.

Variant Interpretation is a Component of Clinical Practice Among Genetic Counselors in Multiple Specialties

Danielle R Azzariti, B. Lepore, C. Martin, 2019, Genetics in Medicine.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Maturity-Onset Diabetes of the Young Overview

R. Naylor, D. Gaudio, A. Johnson, 2018 .