Karen W. Gripp

Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies

Epilepsy as a Novel Phenotype of BPTF-Related Disorders

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

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

The seventh international <scp>RASopathies</scp> symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery

Decolonizing Global Surgery

A dyadic approach to the delineation of diagnostic entities in clinical genomics

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

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

Phenotypic expansion of the <scp><i>BPTF</i></scp>‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Advancing <scp>RAS/RASopathy</scp> therapies: An NCI‐sponsored intramural and extramural collaboration for the study of <scp>RASopathies</scp>

GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder

De novo heterozygous missense and loss‐of‐function variants in <i>CDC42BPB</i> are associated with a neurodevelopmental phenotype

Reanalysis of Clinical Exome Sequencing Data

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Costello syndrome: Clinical phenotype, genotype, and management guidelines

PEDIA: prioritization of exome data by image analysis

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies

Identifying facial phenotypes of genetic disorders using deep learning

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Proceedings of the fifth international RASopathies symposium: When development and cancer intersect

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

Expansion and further delineation of the <i>SETD5</i> phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

Constitutional <i><scp>LZTR1</scp></i> mutation presenting with a unilateral vestibular schwannoma in a teenager

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies