Researcher profile · Semantic Scholar

N. Bain

h-index: 9
Works: 22
Citations: 275

Most-cited papers

FOXP1 mutations cause intellectual disability and a recognizable phenotype
Anna Le Fevre, S. Taylor, Neva H. Malek, D. Horn +9 more
2013American Journal of Medical Genetics. Part A98 citations
Semantic Scholar
An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.
A. Rao, Sheridan O'Donnell, N. Bain, C. Meldrum +2 more
2014European Journal of Medical Genetics41 citations
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Refinement of genotype‐phenotype correlation in 18 patients carrying a 1q24q25 deletion
N. Chatron, V. Haddad, J. Andrieux, J. Désir +27 more
2015American Journal of Medical Genetics. Part A26 citations
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Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R.
M. Leffler, S. Puusepp, O. Žilina, Ying Zhu +5 more
2016European Journal of Medical Genetics17 citations
Semantic Scholar
Genomic profiling of plasma cell disorders in a clinical setting: integration of microarray and FISH, after CD138 selection of bone marrow
Nadine K. Berry, N. Bain, A. Enjeti, P. Rowlings
2013Journal of Clinical Pathology16 citations Open access
Semantic Scholar
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene
Minaka Ishibashi, E. Manning, C. Shoubridge, M. Krecsmarik +18 more
2015Human Genetics15 citations
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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
M. Sy, J. Chauhan, K. Prescott, A. Imam +49 more
2022American Journal of Medical Genetics. Part A12 citations Open access
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A familial 7q36.3 duplication associated with agenesis of the corpus callosum
Keith Wong, R. Moldrich, M. Hunter, M. Edwards +5 more
2015American Journal of Medical Genetics. Part A12 citations
Semantic Scholar
Outfoxed by RBFOX1‐A caution about ascertainment bias
B. Kamien, A. C. Lionel, N. Bain, S. Scherer +1 more
2014American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.
B. Kamien, M. Digilio, A. Novelli, Sheridan O'Donnell +5 more
2015European Journal of Medical Genetics9 citations
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Clinical features associated with a 15.41 Mb deletion of chromosome 13q encompassing the MIR17HG locus.
H. S. Sharaidin, S. Knipe, N. Bain, H. Goel
2013Clinical Dysmorphology8 citations
Semantic Scholar
16p13.11 Microdeletion in a Patient With Hemiconvulsion-Hemiplegia-Epilepsy Syndrome
C. Miteff, Robert L. Smith, N. Bain, G. Subramanian +2 more
2015Journal of Child Neurology7 citations
Semantic Scholar
Adult mouse intrinsic laryngeal muscles express high levels of the myogenic regulatory factor, MYF-5
N. Bain, M. A. Knight, L. O’Donnell, B. Murdoch +1 more
20012 citations
Semantic Scholar
A familial rearrangement resulting in pure duplication of distal 19p13.3
N. Bain, Nicholas Koulouris, R. Scott, M. Buckman +1 more
2023Clinical Dysmorphology1 citations
Semantic Scholar
A Familial 7 q 36 . 3 Duplication Associated with Agenesis of the Corpus Callosum
Keith Wong, Randal Moldrich, M. Hunter, M. Edwards +5 more
20151 citations
Semantic Scholar
Expansion of the Phenotypic Spectrum of TNRC6B-Related Neurodevelopmental Disorder in a Three-Generation Family with 22q13.1 Deletion
Jessica Archer, Sheridan O'Donnell, M. Buckman, N. Bain +1 more
2026Genes0 citations Open access
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Chromosome microarray proficiency testing and analysis of quality metric data trends through an external quality assessment program for Australasian laboratories.
Dale C. Wright, N. Adayapalam, N. Bain, S. Bain +16 more
2016Pathology (Sydney)0 citations
Semantic Scholar
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene
Minaka Ishibashi, E. Manning, C. Shoubridge, M. Krecsmarik +18 more
2015Human Genetics0 citations
Semantic Scholar
Transcription Of The Extra-Ocular Myosin Heavy Chain Gene Is Not Restricted To Eye And Laryngeal Muscles
W. Davies, C. Dash, N. Shaddock, N. Bain +2 more
20040 citations
Semantic Scholar
High levels of Myf5 & MyoD direct expression of the extraocular-myosin heavy chain in laryngeal muscles & regenerating muscle
A. E. Trezíse, N. Shaddock, Lisa N. Putral, N. Bain +1 more
20030 citations
Semantic Scholar
A unique profile of muscle regulatory factors directs the functional specialisation of the intrinsic laryngeal muscles
A. E. Trezíse, N. Bain, M. A. Knight, L. O’Donnell +1 more
20010 citations
Semantic Scholar
Murine laryngeal muscles express a unique profile of muscle regulatory factors
A. E. Trezíse, N. Bain, M. A. Knight, S. L. O'Donnell +1 more
20000 citations
Semantic Scholar

M. Hunter

×4

B. Murdoch×4

J. Gécz×3

A. Hackett×3

M. A. Knight×3

T. Burgess×2

K. Fagan×2

C. Meldrum×2