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Nicole L. Bain
Observed names:
N. Bain,
Nicole Bain,
Nicole L Bain
Institutions:
John Hunter Hospital,
NSW Health Pathology
Observed institutions:
John Hunter Hospital,
Government of New South Wales,
NSW Health Pathology
OpenAlex ID:
A5091579208
FOXP1 mutations cause intellectual disability and a recognizable phenotype
2013
·
Anna K. Le Fevre
, Sharelle Taylor
, et al.
·
American Journal of Medical Genetics Part A
·
99
Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R
2015
·
Melanie Leffler
, Sanna Puusepp
, et al.
·
European Journal of Medical Genetics
·
48
An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects
2014
·
Anupam Rao
, Sheridan O'Donnell
, et al.
·
European Journal of Medical Genetics
·
42
Refinement of genotype‐phenotype correlation in 18 patients carrying a 1q24q25 deletion
2015
·
Nicolas Chatron
, Véronique Haddad
, et al.
·
American Journal of Medical Genetics Part A
·
31
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene
2015
·
Minaka Ishibashi
, Elizabeth Manning
, et al.
·
Human Genetics
·
19
Genomic profiling of plasma cell disorders in a clinical setting: integration of microarray and FISH, after CD138 selection of bone marrow
2013
·
Nadine Kaye Berry
, Nicole L Bain
, et al.
·
Journal of Clinical Pathology
·
16
PDF
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
2022
·
Mary R. Sy
, Jaynee Chauhan
, et al.
·
American Journal of Medical Genetics Part A
·
14
PDF
A familial 7q36.3 duplication associated with agenesis of the corpus callosum
2015
·
Keith Wong
, Randal Moldrich
, et al.
·
American Journal of Medical Genetics Part A
·
12
Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions
2015
·
Benjamin Kamien
, M. Cristina Digilio
, et al.
·
European Journal of Medical Genetics
·
9
Outfoxed by RBFOX1‐A caution about ascertainment bias
2014
·
Benjamin Kamien
, Anath C. Lionel
, et al.
·
American Journal of Medical Genetics Part A
·
9
Clinical features associated with a 15.41 Mb deletion of chromosome 13q encompassing the MIR17HG locus
2013
·
Hanis S. Sharaidin
, Stephen Knipe
, et al.
·
Clinical Dysmorphology
·
9
16p13.11 Microdeletion in a Patient With Hemiconvulsion-Hemiplegia-Epilepsy Syndrome
2014
·
Christina I. Miteff
, Robert L. Smith
, et al.
·
Journal of Child Neurology
·
8
A familial rearrangement resulting in pure duplication of distal 19p13.3
2023
·
Nicole L. Bain
, Nicholas Koulouris
, et al.
·
Clinical Dysmorphology
·
2
Chromosome microarray proficiency testing and analysis of quality metric data trends through an external quality assessment program for Australasian laboratories
2016
·
D.C. Wright
, N. Adayapalam
, et al.
·
Pathology
·
1
Expansion of the Phenotypic Spectrum of TNRC6B-Related Neurodevelopmental Disorder in a Three-Generation Family with 22q13.1 Deletion
2026
·
Jessica Archer
, Sheridan O’Donnell
, et al.
·
Genes
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Works count:
15
Citation count:
319
H-index:
9
I10-index:
8
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