| Year |
Title |
Altmetric |
| 2022
|
Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I
2022
|
|
| 2022
|
Analysis of patient-specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine.
Human Mutation.
43:30-41.
2022
|
|
| 2022
|
Functional characterization and potential therapeutic avenues for variants in the NTRK2 gene causing developmental and epileptic encephalopathies.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.
189:37-47.
2022
|
|
| 2021
|
Restoration of normal NF1 function with antisense morpholino treatment of recurrent pathogenic patient-specific variant c.1466a>G; p.Y489C.
Journal of Personalized Medicine.
11.
2021
|
|
| 2021
|
Status and Recommendations for Incorporating Biomarkers for Cutaneous Neurofibromas Into Clinical Research.
Neurology.
97:S42-S49.
2021
|
|
| 2020
|
Mutation-Directed Therapeutics for Neurofibromatosis Type I
2020
|
|
| 2019
|
ADGRL3 (LPHN3) variants predict substance use disorder.
Translational Psychiatry.
9.
2019
|
|
| 2019
|
Affinity purification of NF1 protein–protein interactors identifies keratins and neurofibromin itself as binding partners.
Genes.
10.
2019
|
|
| 2019
|
Multi-Omics Profiling for NF1 Target Discovery in Neurofibromin (NF1) Deficient Cells.
Proteomics.
19.
2019
|
|
| 2018
|
Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.
EBioMedicine.
36:508-516.
2018
|
|
| 2018
|
Neurofibromin (NF1) genetic variant structure–function analyses using a full-length mouse cDNA.
Human Mutation.
39:816-821.
2018
|
|
| 2017
|
Development of a Novel Lead that Targets M. tuberculosis Polyketide Synthase 13.
Cell.
170:249-259.e25.
2017
|
|
| 2016
|
Behavioral and transcriptomic profiling of mice null for Lphn3, a gene implicated in ADHD and addiction.
Molecular Genetics and Genomic Medicine.
4:322-343.
2016
|
|
| 2015
|
Vapb/Amyotrophic lateral sclerosis 8 knock-in mice display slowly progressive motor behavior defects accompanying ER stress and autophagic response.
Human Molecular Genetics.
24:6515-6529.
2015
|
|
| 2015
|
High-Throughput Differentiation and Screening of a Library of Mutant Stem Cell Clones Defines New Host-Based Genes Involved in Rabies Virus Infection.
Stem Cells.
33:2509-2522.
2015
|
|
| 2015
|
Functional genomics screening utilizing mutant mouse embryonic stem cells identifies novel radiation-response genes.
PLoS One.
10.
2015
|
|
| 2015
|
Autism-Like Behavior and Epigenetic Changes Associated with Autism as Consequences of in Utero Exposure to Environmental Pollutants in a Mouse Model
2015
|
|
| 2013
|
XTryptophan biosynthesis protects mycobacteria from CD4 T-Cell-mediated Killing.
Cell.
155.
2013
|
|
| 2012
|
Initial characterization of mice null for Lphn3, a gene implicated in ADHD and addiction.
Brain Research.
1463:85-92.
2012
|
|
| 2011
|
Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.
156:11-18.
2011
|
|
| 2010
|
A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication.
Molecular Psychiatry.
15:1053-1066.
2010
|
|
| 2010
|
The search for biomarkers for attention deficit/ hyperactivity disorder.
Drug news & perspectives.
23:438-449.
2010
|
|
| 2009
|
Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate.
2009
|
|
| 2009
|
Folate Transport and Folate Responsive Developmental Disorders..
Pteridines.
20:156-162.
2009
|
|
| 2008
|
Review: Genetics of attention deficit/hyperactivity disorder.
Journal of Pediatric Psychology.
33:1085-1099.
2008
|
|
| 2008
|
Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?.
American Journal of Medical Genetics Part A.
146:2308-2311.
2008
|
|
| 2008
|
Additional EFNB1 mutations in craniofrontonasal syndrome.
American Journal of Medical Genetics Part A.
146:2008-2012.
2008
|
|
| 2007
|
Attention-Deficit/Hyperactivity Disorder and Comorbid Disruptive Behavior Disorders: Evidence of Pleiotropy and New Susceptibility Loci.
Biological Psychiatry.
61:1329-1339.
2007
|
|
| 2006
|
Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects.
Journal of Pediatric Psychology.
31:945-955.
2006
|
|
| 2005
|
Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiation.
Genes and Development.
19:2412-2417.
2005
|
|
| 2004
|
Growth factor independence-1 is expressed in primary human neuroendocrine lung carcinomas and mediates the differentiation of murine pulmonary neuroendocrine cells.
Cancer Research.
64:6874-6882.
2004
|
|
| 2003
|
The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is require for inner ear hair cell differentiation and survival
2003
|
|
| 2000
|
Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene Era.
Genomics.
67:78-82.
2000
|
|
| 2000
|
ARP3β, the gene encoding a new human actin-related protein, is alternatively spliced and predominantly expressed in brain neuronal cells
2000
|
|
| 2000
|
Mutations in Holoprosencephaly.
Human Mutation.
16:99-108.
2000
|
|
| 1999
|
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
Nature Genetics.
22:196-198.
1999
|
|
| 1999
|
Molecular mechanisms of holoprosencephaly.
Molecular Genetics and Metabolism.
68:126-138.
1999
|
|
| 1997
|
Genomic structure, sequence, and mapping of human FGF8 with no evidence for its role in craniosynostosis/limb defect syndromes..
American Journal of Medical Genetics Part A.
72:354-362.
1997
|
|
| 1997
|
A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22.
Human Molecular Genetics.
6:1937-1941.
1997
|
|
| 1997
|
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly..
Human Genetics.
100:172-181.
1997
|
|
| 1996
|
Comparison of polymerase chain reaction and microbiological culture for detection of salmonellae in equine feces and environmental samples.
American Journal of Veterinary Research.
57:780-786.
1996
|
|
| 1996
|
Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21..
Human Molecular Genetics.
5:223-229.
1996
|
|
| 1995
|
Detection of Salmonella enteritidis in equine feces using the polymerase chain reaction and genus-specific oligonucleotide primers.
Journal of Veterinary Diagnostic Investigation.
7:219-222.
1995
|
|
| 1994
|
Comparison of the polymerase chain reaction using genus-specific oligonucleotide primers and microbiologic culture for the detection of Salmonella in drag-swabs from poultry houses..
Poultry Science.
73:1276-1281.
1994
|
|
| 1994
|
Detection of Salmonella enteritidis in feces from poultry using booster polymerase chain reaction and oligonucleotide primers specific for all members of the genus Salmonella..
Poultry Science.
73:354-357.
1994
|
|
| 1994
|
Genus-specific detection of salmonellae in equine feces by use of the polymerase chain reaction..
American Journal of Veterinary Research.
55:1049-1054.
1994
|
|
| 1994
|
Mapping the bovine homolog of the human cystic fibrosis gene.
Journal of Heredity.
85:490-492.
1994
|
|
