The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

Darryl Nishimura, Ruth E. Swiderski, Wallace L.M. Alward, +7

Nature Genetics

Systems BiologyMolecular PhysiologySignaling PathwayCell SignalingGenetics +8

A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye

Darryl Nishimura, Charles Searby, Wallace L.M. Alward, +8

The American Journal of Human Genetics

Ocular DiseaseGene DosageDevelopmental BiologyOphthalmologyGenetic Disorder +7

Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a 1-cM Interval on Chromosome 1q42-43

Ruti Parvari, Eli Hershkovitz, Adam B. Kanis, +4

The American Journal of Human Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsGenetic Epidemiology +6

Homozygosity Mapping of Achromatopsia to Chromosome 2 Using DNA Pooling

Nancy C. Arbour, Joël Zlotogora, Robert G. Knowlton, +6

Human Molecular Genetics

Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome

James Brookes, Adam B. Kanis, Lih Yeen Tan, +3

International Journal of Pediatric Otorhinolaryngology

Health SciencesAudiologyNeurologyNeuroscienceCochlear Implant +6

Antenatal sonographic diagnosis of club foot with particular attention to the implications and outcomes of isolated club foot

Asha Rijhsinghani, Jerome Yankowitz, Adam B. Kanis, +3

Ultrasound in Obstetrics and Gynecology

Short tandem repeat polymorphic markers for the rat genome from marker-selected libraries

Roxanne Y. Walder, Michael R. Garrett, Ann McClain, +6

Mammalian Genome

Allelic VariantMarker-selected LibrariesGeneticsLinkage AnalysisMolecular Biology +8

Genomic Organization, 5′-Flanking Region, and Chromosomal Localization of the HumanRGS3Gene

Tapan K. Chatterjee, Alex Eapen, Adam B. Kanis, +1

Genomics

ChromatinDevelopmental BiologyGeneticsGenome StructureGenomic Mechanism +6

A Case of Wolf-Hirschhorn Syndrome and Hypoplastic Left Heart Syndrome

Kelley von Elten, Taylor Sawyer, Sarah L. Lentz-Kapua, +2

Pediatric Cardiology

Congenital Heart DefectWolf-hirschhorn SyndromeCongenital Heart Anomaly

Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci

Adam B. Kanis, Ali A. Al‐Rajhi, Christine Taylor, +5

Ophthalmic Genetics

CytogeneticsGeneticsGenetic EpidemiologyHuman PolymorphismMolecular Biology +20