A. K. Knight Johnson

发表

Alu‐mediated deletion of PIGL in a Patient with CHIME syndrome

G. B. Schaefer, D. del Gaudio, Jennifer A. Lee, 2017, American journal of medical genetics. Part A.

Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma.

Lauren L. Ritterhouse, D. Huo, Sabah Kadri, 2018, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding*

Michael T. Zimmermann, Gavin R. Oliver, M. Zimmermann, 2017, The Journal of Biological Chemistry.

Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

S. Ellard, L. Aguilar-Bryan, T. Laver, 2020, Human mutation.

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

Soma Das, Heidi L Rehm, Brian H Shirts, 2018, Human mutation.

Clinical Laboratories Collaborate to Resolve Differences in Variant Interpretations Submitted to ClinVar

Soma Das, Heidi L Rehm, Danielle R Azzariti, 2017, Genetics in Medicine.

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Joshua L. Deignan, W. Chung, N. Spinner, 2016, Genetics in Medicine.

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome

I. Krantz, Soma Das, S. Tremblay, 2017, Journal of Human Genetics.

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome

I. Krantz, Soma Das, S. Tremblay, 2018, Journal of Human Genetics.

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.

GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants.

L. Philipson, S. Greeley, D. del Gaudio, 2019, Diabetes research and clinical practice.

Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma.

Lauren L. Ritterhouse, D. Huo, Sabah Kadri, 2018, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.