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L. Osborne · SciRah

Researcher profile · Semantic Scholar

L. Osborne

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L. Osborne — researcher profile on SciRah

h-index: 36
Works: 97
Citations: 5,021

Most-cited papers

Severe expressive-language delay related to duplication of the Williams-Beuren locus.
M. Somerville, C. Mervis, E. Young, E. Seo +9 more
2005New England Journal of Medicine339 citations Open access
Semantic Scholar
A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome
L. Osborne, Martin Li, B. Pober, D. Chitayat +7 more
2001Nature Genetics320 citations Open access
Semantic Scholar
Clustering autism - using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity
J. Ellegood, E. Anagnostou, B. Babineau, Jacqueline N. Crawley +29 more
2014Molecular Psychiatry287 citations Open access
Semantic Scholar
A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia
A. Flenniken, L. Osborne, Nicole Anderson, N. Ciliberti +31 more
2005Development248 citations
Semantic Scholar
Essential Role of Fkbp6 in Male Fertility and Homologous Chromosome Pairing in Meiosis
M. Crackower, N. K. Kolas, J. Noguchi, R. Sarao +15 more
2003Science219 citations Open access
Semantic Scholar
Human Chromosome 7: DNA Sequence and Biology
S. Scherer, Joseph Cheung, J. MacDonald, L. Osborne +86 more
2003Science218 citations Open access
Semantic Scholar
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.
L. Feuk, Aino Kalervo, M. Lipsanen-Nyman, J. Skaug +19 more
2006American Journal of Human Genetics205 citations Open access
Semantic Scholar
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype–phenotype analysis of five families with deletions in the Williams syndrome region
Colleen A. Morris, C. Mervis, Holly H. Hobart, Ronald G. Gregg +10 more
2003American Journal of Medical Genetics. Part A176 citations
Semantic Scholar
Rearrangements of the Williams–Beuren syndrome locus: molecular basis and implications for speech and language development
L. Osborne, C. Mervis
2007Expert Reviews in Molecular Medicine172 citations Open access
Semantic Scholar
Elastin: mutational spectrum in supravalvular aortic stenosis
K. Metcalfe, A. Rucka, L. Smoot, Guenter Hofstadler +14 more
2000European Journal of Human Genetics171 citations
Semantic Scholar
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
G. Beunders, E. Voorhoeve, C. Golzio, L. Pardo +59 more
2013American Journal of Human Genetics168 citations Open access
Semantic Scholar
Williams syndrome
B. Kozel, B. Barak, C. Kim, C. Mervis +3 more
2021Nature Reviews Disease Primers163 citations Open access
Semantic Scholar
A Predictive Metabolic Signature for the Transition From Gestational Diabetes Mellitus to Type 2 Diabetes
Amina Allalou, A. Nalla, K. Prentice, Ying Liu +7 more
2016Diabetes145 citations Open access
Semantic Scholar
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
C. Marshall, E. Young, Ariel M. Pani, M. Freckmann +21 more
2008American Journal of Human Genetics127 citations Open access
Semantic Scholar
Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1‐targeted mice
E. Young, T. Lipina, E. Tam, Ariane Mandel +7 more
2008Genes, Brain and Behavior117 citations Open access
Semantic Scholar
Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.
L. Osborne, D. Martindale, S. Scherer, Xiao-Mei Shi +9 more
1996Genomics117 citations Open access
Semantic Scholar
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes
A. Botta, G. Novelli, Aldo Mari, A. Novelli +6 more
1999Journal of Medical Genetics106 citations Open access
Semantic Scholar
Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens.
L. Osborne, Michael Lynch, P. Middleton, E. Alton +4 more
1993Human Molecular Genetics87 citations
Semantic Scholar
Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder.
L. Osborne
1999Molecular Genetics and Metabolism85 citations
Semantic Scholar
Duplication of GTF2I results in separation anxiety in mice and humans.
C. Mervis, J. Dida, Emily Lam, Nicole A. Crawford-Zelli +7 more
2012American Journal of Human Genetics83 citations Open access
Semantic Scholar
Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome.
L. Osborne, Sylvia Soder, Xiao-Mei Shi, B. Pober +3 more
1997American Journal of Human Genetics80 citations Open access
Semantic Scholar
PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7.
L. Osborne, J. Herbrick, Tom Greavette, Henry H. Q. Heng +2 more
1997Genomics78 citations
Semantic Scholar
The Sweet Pee model for Sglt2 mutation.
Joseph P. Ly, T. Onay, Karen Sison, Gavasker A. Sivaskandarajah +11 more
2011Journal of the American Society of Nephrology77 citations Open access
Semantic Scholar
First Mouse Model for Combined Osteogenesis Imperfecta and Ehlers‐Danlos Syndrome
Frieda Chen, Ruo-Lin Guo, Shousaku Itoh, Luisa Moreno +11 more
2014Journal of Bone and Mineral Research75 citations Open access
Semantic Scholar
Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23.
E. Strong, D. Butcher, Rajat Singhania, C. Mervis +4 more
2015American Journal of Human Genetics70 citations Open access
Semantic Scholar
Transgenic mouse overexpressing syntaxin-1A as a diabetes model.
Patrick P. L. Lam, Y. Leung, L. Sheu, J. Ellis +3 more
2005Diabetes70 citations Open access
Semantic Scholar
Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome.
L. Osborne, Tracey L. Campbell, A. Daradich, S. Scherer +1 more
1999Genomics65 citations
Semantic Scholar
West syndrome associated with 14q12 duplications harboring FOXG1
P. Striano, Roberta Paravidino, Federico Sicca, Pietro Chiurazzi +17 more
2011Neurology56 citations
Semantic Scholar
The BCL7 gene family: deletion of BCL7B in Williams syndrome.
Dalal M. Jadayel, L. Osborne, L. Coignet, V. Zani +3 more
1998Gene51 citations
Semantic Scholar
Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome
S. Khattak, Elise Brimble, Wen-Bo Zhang, K. Zaslavsky +7 more
2015Molecular Brain47 citations Open access
Semantic Scholar
The V–ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice
Noelle Ochotny, A. Flenniken, Celeste Owen, I. Voronov +7 more
2011Journal of Bone and Mineral Research47 citations Open access
Semantic Scholar
Deletion mapping on the long arm of chromosome 7 in splenic lymphoma with villous lymphocytes
A. Gruszka-Westwood, R. Hamoudi, L. Osborne, E. Matutes +1 more
2003Genes, Chromosomes and Cancer46 citations
Semantic Scholar
3D visualization of the regional differences
J. Ellegood, E. Anagnostou, B. Babineau, J. Crawley +29 more
2015Molecular Psychiatry45 citations Open access
Semantic Scholar
Forward genetic screen of mouse reveals dominant missense mutation in the P/Q‐type voltage‐dependent calcium channel, CACNA1A
Gang Xie, S. Clapcote, B. J. Nieman, T. Tallerico +8 more
2007Genes, Brain and Behavior44 citations
Semantic Scholar
New Roles of Syntaxin-1A in Insulin Granule Exocytosis and Replenishment*
T. Liang, Tairan Qin, Li Xie, Subhankar Dolai +6 more
2016Journal of Biological Chemistry36 citations Open access
Semantic Scholar
Substrain Differences Reveal Novel Disease-Modifying Gene Candidates That Alter the Clinical Course of a Rodent Model of Multiple Sclerosis
Leslie E. Summers deLuca, N. Pikor, Jennifer O’Leary, Georgina Galicia-Rosas +6 more
2010Journal of Immunology36 citations Open access
Semantic Scholar
Enhanced prefrontal serotonin 5-HT1A currents in a mouse model of Williams-Beuren syndrome with low innate anxiety
É. Proulx, E. Young, L. Osborne, E. Lambe
2010Journal of Neurodevelopmental Disorders36 citations Open access
Semantic Scholar
Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children
S. Scherer, K. Gripp, Jaume Lucena, L. Nicholson +3 more
2005Human Genetics36 citations Open access
Semantic Scholar
GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders
Alejandro López-Tóbon, R. Shyti, C. E. Villa, C. Cheroni +14 more
2022bioRxiv35 citations Open access
Semantic Scholar
ENU-induced Mutation in the DNA-binding Domain of KLF3 Reveals Important Roles for KLF3 in Cardiovascular Development and Function in Mice
L. Kelsey, A. Flenniken, Da-Wei Qu, Alister P. W. Funnell +21 more
2013PLoS Genetics35 citations Open access
Semantic Scholar
Speech and Language Impairment and Oromotor Dyspraxia Due to Deletion of 7 q 31 That Involves FOXP 2
S. Zeesman, M. Nowaczyk, I. Teshima, W. Roberts +6 more
200631 citations
Semantic Scholar
A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis
M. Hughes, Nicole Anderson, S. Maltby, J. Wong +15 more
2010Experimental Hematology30 citations Open access
Semantic Scholar
Global Analysis of Gene Expression in the Developing Brain of Gtf2ird1 Knockout Mice
Jennifer O’Leary, L. Osborne
2011PLoS ONE28 citations Open access
Semantic Scholar
The Centre for Modeling Human Disease Gene Trap resource
C. To, T. Epp, T. Reid, Qing Lan +9 more
2004Nucleic Acids Res.28 citations Open access
Semantic Scholar
Assignment of the human CC chemokine MPIF-2/eotaxin-2 (SCYA24) to chromosome 7q11.23.
Hisayuki Nomiyama, L. Osborne, Toshio Imai, J. Kusuda +3 more
1998Genomics24 citations
Semantic Scholar
7q11.23 deletion and duplication.
L. Osborne, C. Mervis
2021Current Opinion in Genetics and Development23 citations
Semantic Scholar
Syntaxin 2 Acts as Inhibitory SNARE for Insulin Granule Exocytosis
Dan Zhu, Li Xie, Youhou Kang, Subhankar Dolai +7 more
2017Diabetes23 citations Open access
Semantic Scholar
Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models
M. Deurloo, Ekaterina Turlova, Wenliang Chen, You-Wei Lin +10 more
2018Molecular Neurobiology21 citations Open access
Semantic Scholar
Spatial gene expression analysis of neuroanatomical differences in mouse models
D. Fernandes, J. Ellegood, R. Askalan, R. Blakely +11 more
2017NeuroImage21 citations Open access
Semantic Scholar
Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans.
C. Davidson, Qian Li, G. Churchill, L. Osborne +1 more
2007Physiological Genomics19 citations
Semantic Scholar

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