Heterogeneous Pulmonary Phenotypes Associated With Mutations in the Thyroid Transcription Factor Gene NKX2-1

Aaron Hamvas, Robin R. Deterding, Susan E. Wert, +13

CHEST Journal

Inflammatory Lung DiseaseGeneticsPathologyBronchial NeoplasmMedicine +1

Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister‐Killian syndrome): Report of 11 cases

James F. Reynolds, Art Daniel, Thaddeus E. Kelly, +9

American Journal of Medical Genetics

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Jennifer J. Johnston, Julie C. Sapp, Joyce Turner, +50

Human Mutation

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

Kimberly A. Aldinger, Stephen J. Mosca, Martine Tétreault, +16

The American Journal of Human Genetics

Ocular DiseaseMendelian DisorderRetinal DystrophyOphthalmologyGenetic Disorder +4

Limb reduction anomalies and early in utero limb compression

John M. Graham, Marvin E. Miller, Mark J. Stephan, +1

The Journal of Pediatrics

Limb ReconstructionFetal MedicineLower Limb TraumaGynecologyLimb Reduction Anomalies +6

Macrocephaly in association with unusual cutaneous angiomatosis

Mark J. Stephan, Bryan D. Hall, David W. Smith, +1

The Journal of Pediatrics

VasculitisSurgical PathologyHistopathologyHematologyPathology +5

Origin of scalp vertex aplasia cutis

Mark J. Stephan, David W. Smith, Joseph W. Ponzi, +1

The Journal of Pediatrics

Morphological EvidenceBotanyNatural SciencesMorphogenesisCladistics +5

Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia

Jennifer E. Below, Dawn Earl, Kathryn M. Shively, +15

The American Journal of Human Genetics

Genome InstabilityWhole-genome Analysis RevealsSomatic VariantGenetic DisorderGenetics +7

Cohesin complex-associated holoprosencephaly

Paul Kruszka, Seth Berger, Valentina Casà, +32

Brain

Corticobasal DegenerationGeneticsDisease Gene IdentificationEpigeneticsBrain Pathology +16

Severe Skin Erosions and Scalp Infections in AEC Syndrome

Sheryll L. Vanderhooft, Mark J. Stephan, Virginia P. Sybert

Pediatric Dermatology