Elliott H Sherr
Affiliation: University of California
- The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypesElliott H Sherr
Departments of Neurology and Pediatrics, University of California, San Francisco, California 94143 0748, USA
Curr Opin Pediatr 15:567-71. 2003..Mutations in the Aristaless related homeobox gene (ARX) have been found in patients with these conditions. This discovery provides important genetic information and may ultimately offer treatment options for these patients...
- Aberrant white matter microstructure in children with 16p11.2 deletionsJulia P Owen
Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, California 94107, Program in Bioengineering, Department of Neurology, University of California, San Francisco, San Francisco, California 94158, Department of Radiology, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, Simons Foundation, New York, New York 10010, Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York 10032, and Center for Brain Science, Harvard University, Cambridge, Massachusetts 02138
J Neurosci 34:6214-23. 2014..These findings suggest that deletion of the 16p11.2 locus is associated with a unique widespread pattern of aberrant white matter microstructure that may underlie the impaired cognition characteristic of this CNV. ..
- Resting-state networks and the functional connectome of the human brain in agenesis of the corpus callosumJulia P Owen
1 Department of Radiology and Biomedical Imaging, University of California, San Francisco, California
Brain Connect 3:547-62. 2013....
- Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutationsNelson Lopez Jimenez
Department of Pediatrics, Division of Genetics, University of California, San Francisco, 533 Parnassus St, Room U585P, San Francisco, CA 94143 0748 USA
BMC Med Genet 12:172. 2011..We used next-generation sequencing to screen 15 A/M patients for mutations in 9 pathogenic genes to evaluate this technology for screening in A/M...
- Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformationsSteven W Hetts
Department of Radiology, University of California at San Francisco, 505 Parnassus Ave, L358, San Francisco, CA 94143 0628, USA
AJR Am J Roentgenol 187:1343-8. 2006..We sought to categorize the structural brain anomalies associated with abnormalities of the corpus callosum and anterior and hippocampal commissures in a large cohort...
- VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humansAnne M Slavotinek
Department of Pediatrics, Division of Genetics, University of California, San Francisco, California 94143 0748, USA
Hum Mutat 33:364-8. 2012..We did not identify any mutations in VAX2. This is the first description of a phenotype associated with a VAX1 mutation in humans and establishes VAX1 as a new causative gene for A/M...
- De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndromeSanjin Tunovic
Department of Pediatrics and Institute for Human Genetics, University of California, San Francisco, San Francisco, California
Am J Med Genet A 164:1744-9. 2014..We describe this child as the first report of a deleterious sequence variant in KDM1A and hypothesize that his phenotype resulted from the combined effect of both mutations. © 2014 Wiley Periodicals, Inc. ..
- Test-retest reliability of computational network measurements derived from the structural connectome of the human brainJulia P Owen
Department of Radiology and Biomedical Imaging, University of California, San Francisco, California 94107, USA
Brain Connect 3:160-76. 2013....
- Autism traits in individuals with agenesis of the corpus callosumYolanda C Lau
School of Medicine, University of California, San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143, USA
J Autism Dev Disord 43:1106-18. 2013..Individuals with AgCC should be screened for ASD and disorders of the corpus callosum should be considered in autism diagnostic evaluations as well...
- Children with autism show reduced somatosensory response: an MEG studyElysa J Marco
Department of Neurology, Pediatrics, and Psychiatry, University of California, San Francisco, CA 94143, USA
Autism Res 5:340-51. 2012..This study suggests that children with autism have early differences in somatosensory processing, which likely influence later stages of cortical activity from integration to motor response...
- Dilated perivascular spaces: an informative radiologic finding in Sanfilippo syndrome type ASimay Kara
Department of Radiology, University of California, San Francisco, California, USA
Pediatr Neurol 38:363-6. 2008..This case calls attention to the variety of appearances possible with magnetic resonance imaging in Sanfilippo syndrome type A...
- Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndromeJiang Li
Department of Neurology, University of California, San Francisco, California 94143, USA
Am J Med Genet A 143:1900-5. 2007..This case presents many features similar to Temtamy syndrome and will help in establishing the spectrum of this disorder...
- Agenesis of the corpus callosum in California 1983-2003: a population-based studyHannah C Glass
Department of Neurology, University of California, San Francisco, California 94143 0137, USA
Am J Med Genet A 146:2495-500. 2008....
- CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersFrancesco Brancati
IRCCS CSS, Mendel Institute, Viale Regina Margherita 261, 00198, Rome, Italy
Am J Hum Genet 81:104-13. 2007..One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies...
- Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosumElena Boland
Academic Unit of Medical Genetics and Regional Genetic Service, St Mary s Hospital, and Centre for Molecular Medicine, The University of Manchester, M13 0JH, UK
Am J Hum Genet 81:292-303. 2007..AKT3 represents an excellent candidate for developmental human MIC and ACC, and we suggest that haploinsufficiency causes both postnatal MIC and ACC...
- NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defectsWeining Lu
Genetics Division, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
PLoS Genet 3:e80. 2007....
- Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivityLynn K Paul
California Institute of Technology, MC 228 77 Pasadena, California 91125, USA
Nat Rev Neurosci 8:287-99. 2007..The study of AgCC could provide insight into the integrated cerebral functioning of healthy brains, and may offer a model for understanding certain psychiatric illnesses, such as schizophrenia and autism...
- The importance of metabolic testing in the evaluation of intellectual disabilitySabine Mueller
Ann Neurol 64:113-4. 2008