• Publications
  • Influence
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.
OBJECTIVES We evaluated the role of Cypher/ZASP in the pathogenesis of dilated cardiomyopathy (DCM) with or without isolated non-compaction of the left ventricular myocardium (INLVM). BACKGROUNDExpand
  • 492
  • 27
A primer for morpholino use in zebrafish.
Morpholino oligonucleotides are the most common anti-sense "knockdown" technique used in zebrafish (Danio rerio). This review discusses common practices for the design, preparation, and deployment ofExpand
  • 406
  • 20
  • PDF
Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
Paired box (PAX) genes play a critical role in human development and disease. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. We haveExpand
  • 584
  • 18
WNT5A mutations in patients with autosomal dominant Robinow syndrome
Robinow syndrome is a skeletal dysplasia with both autosomal dominant and autosomal recessive inheritance patterns. It is characterized by short stature, limb shortening, genital hypoplasia, andExpand
  • 192
  • 16
Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.
Low-copy repeats (LCRs) are genomic features that affect chromosome stability and can produce disease-associated rearrangements. We describe members of three families with deletions inExpand
  • 109
  • 14
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database
Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal‐dominant disorder characterized by ocular and renal malformations. Mutations in the paired‐box gene, PAX2, have beenExpand
  • 82
  • 9
Novel mutation in sonic hedgehog in non‐syndromic colobomatous microphthalmia
Ocular (uveoretinal) colobomas occur in one in 10,000 individuals and present a substantive cause of congenital poor vision. The genetic bases of most forms of uveoretinal coloboma are elusive;Expand
  • 143
  • 8
Parents’ Perceptions of Autism Spectrum Disorder Etiology and Recurrence Risk and Effects of their Perceptions on Family Planning: Recommendations for Genetic Counselors
Knowledge about the etiology of Autism Spectrum Disorders (ASDs) is increasing, but causes remain elusive for most cases. Genetic counselors are positioned to help families that have children withExpand
  • 87
  • 5
TLR9 polymorphisms are associated with altered IFN-gamma levels in children with cerebral malaria.
Toll-like receptor (TLR) polymorphisms have been associated with disease severity in malaria infection, but mechanisms for this association have not been characterized. The TLR2, 4, and 9 singleExpand
  • 56
  • 4
A novel microdeletion/microduplication syndrome of 19p13.13
Purpose: Whole genome interrogation by array-based comparative genomic hybridization has led to a rapidly increasing number of discoveries of novel microdeletion and/or microduplication syndromes. WeExpand
  • 38
  • 4
...
1
2
3
4
5
...