Ian D. Krantz

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms

Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Activating<i>RAC1</i>variants in the switch II region cause a developmental syndrome and alter neuronal morphology

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

Diversity, Equity, and Inclusion in The Journal of Pediatrics

International electronic health record-derived COVID-19 clinical course profiles: the 4CE consortium

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

Redefining the Etiologic Landscape of Cerebellar Malformations

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

Disruption of cardiac thin filament assembly arising from a mutation in <i>LMOD2</i> : A novel mechanism of neonatal dilated cardiomyopathy

A taxonomy of medical uncertainties in clinical genome sequencing

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Recommendations for the integration of genomics into clinical practice

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior

Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections

RAD21 Mutations Cause a Human Cohesinopathy