HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1 Mice

Bryn D. Webb, Sherin Shaaban, Harald Gaspar, +14

The American Journal of Human Genetics

Knockout MouseHoxb1 MiceDevelopmental BiologySomatic VariantGenetic Disorder +6

Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

Bert Callewaert, Chi-Ting Su, Tim Van Damme, +25

Human Mutation

Inflammatory Lung DiseaseLung InflammationRecessive Cutis LaxaGeneticsGenetic Epidemiology +20

Genotypic and phenotypic analysis of 396 individuals with mutations in <i>Sonic Hedgehog</i>

Benjamin D. Solomon, Kelly Bear, Adrian Wyllie, +42

Journal of Medical Genetics

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation

F Schmid, Esther Glaus, Daniel Barthelmes, +7

Human Mutation

Family MembersGeneticsRna SplicingMolecular BiologyPathology +17

The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors

Cathrin Huth, Matthias Kloor, Anita Y. Voigt, +7

Modern Pathology

Tumor BiologyMedicinePathologyLynch Syndrome-associated TumorsCancer Genomics +8

Genetic dosage compensation via co-occurrence of <i>PMP22</i> duplication and <i>PMP22</i> deletion

Nina Hirt, Katja Eggermann, Sonja Hyrenbach, +5

Neurology

GeneticsMolecular BiologyPathologyMolecular GeneticsDosage Compensation +24

The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing <i>NSD1</i>: Is it really a reversed sotos syndrome?

Nicola Dikow, Bianca Maas, Harald Gaspar, +13

American Journal of Medical Genetics Part A

Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes

Janet C. Rucker, Bryn D. Webb, Tamiesha Frempong, +3

Brain

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

Monica Marini, Renata Bocciardi, Stefania Gimelli, +19

Genetics in Medicine

Unaffected ParentsDevelopmental BiologyMendelian DisorderCytogeneticsLmx1b Mutations +8

Genetic landscape of pediatric acute liver failure of indeterminate origin

Dominic Lenz, Lea D. Schlieben, Masaru Shimura, +90

Hepatology