L. Grote

发表

Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness

M. Myers, K. Sund, L. Grote, 2014, American journal of medical genetics. Part A.

2015 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference

S. Kingsmore, N. Miller, E. Farrow, 2015, Journal of Clinical Immunology.

Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings

Carol J. Saunders, E. Farrow, L. Willig, 2018, neurogenetics.

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

Lisa J. Martin, K. Sund, L. Grote, 2012, Genetics in Medicine.

Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing

M. Myers, K. Sund, L. Grote, 2012, Genetics in Medicine.

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization

Stephen F. Kingsmore, James S. Trimmer, Jon T. Sack, 2015, The Journal of general physiology.

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

Neil A. Miller, Carol J. Saunders, S. Kingsmore, 2015, BMC Medical Genetics.

Learning Objectives

L. Grote, J. Rousseau, Jamie O‟Hare, 2003, Continuum.

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Stephan J Sanders, Carol J. Saunders, C. Freitag, 2018, American journal of human genetics.

Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders

Ethan M. Goldberg, Katarina L. Fabre, Robert P. Carson, 2019, Annals of neurology.

High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy

Ethan M. Goldberg, Katarina L. Fabre, Robert P. Carson, 2019, bioRxiv.

Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings

E. Farrow, L. Willig, C. Saunders, 2018, neurogenetics.

Expanding the phenotype of feingold syndrome‐2

L. Grote, E. Repnikova, S. Amudhavalli, 2015, American journal of medical genetics. Part A.

Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings

E. Farrow, L. Willig, C. Saunders, 2018, neurogenetics.