|
| 34486831 | Multi-omic strategies applied to the study of pharmacoresistance in mesial temporal lobe epilepsy. | Epilepsia Open | 2022 |
| 35629950 | Circulating Metabolites as Biomarkers of Disease in Patients with Mesial Temporal Lobe Epilepsy. | Metabolites | 2022 |
| 33722437 | Multi-omics in mesial temporal lobe epilepsy with hippocampal sclerosis: Clues into the underlying mechanisms leading to disease. | Seizure : the journal of the British Epilepsy Association | 2021 |
| 32813850 | Circulating nucleic acids in the plasma and serum as potential biomarkers in neurological disorders. | Brazilian Journal of Medical and Biological Research | 2020 |
| 30312536 | Diagnostic application of kidney allograft-derived absolute cell-free DNA levels during transplant dysfunction. | American Journal of Transplantation | 2019 |
| 29595813 | FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts. | Genetics in Medicine | 2018 |
| 29388943 | Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. | Genetics in Medicine | 2018 |
| 29261177 | Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. | Genetics in Medicine | 2018 |
| 28147232 | Use of ubiquitous, highly heterozygous copy number variants and digital droplet polymerase chain reaction to monitor chimerism after allogeneic haematopoietic stem cell transplantation. | Experimental Hematology | 2017 |
| 26643390 | Minimal impact of maternal intravenous immunoglobulin infusion on cell-free DNA sequencing for fetal aneuploidy. | Ultrasound in Obstetrics and Gynecology | 2016 |
| 27323706 | Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing. | Human Mutation | 2016 |
| 26151667 | Maternal mosaicism for a large segmental duplication of 18q as a secondary finding following non-invasive prenatal testing and implications for test accuracy. | Prenatal Diagnosis | 2015 |
| 24899692 | Use of copy number deletion polymorphisms to assess DNA chimerism. | Clinical Chemistry | 2014 |
| 24352913 | Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions. | Am J Med Genet A | 2014 |
| 24489824 | Investigating and correcting plasma DNA sequencing coverage bias to enhance aneuploidy discovery. | PLoS ONE | 2014 |
| 23731025 | High resolution chromosomal microarray in undiagnosed neurological disorders. | J Paediatr Child Health | 2013 |
| 23814038 | Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. | Hum Mol Genet | 2013 |
| 23941433 | Authors' response to: Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data: does increased diagnostic power outweigh the dilemma of rare variants. | BJOG: An International Journal of Obstetrics and Gynaecology | 2013 |
| 24385928 | Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. | PLoS Genet | 2013 |
| 23533028 | Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. | Am J Med Genet B Neuropsychiatr Genet | 2013 |
| 23332022 | Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants? | BJOG: An International Journal of Obstetrics and Gynaecology | 2013 |
| 22277967 | Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. | Sci Transl Med | 2012 |
| 21671380 | Phenotypic variability of distal 22q11.2 copy number abnormalities. | Am J Med Genet A | 2011 |
| 21183788 | Identification of SOX3 as an XX male sex reversal gene in mice and humans. | J Clin Invest | 2011 |
| 21850686 | Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. | Hum Mutat | 2011 |
| 22039585 | Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping. | J Med Genet | 2011 |
| 22140377 | Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications. | Mol Syndromol | 2010 |
| 20805988 | A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. | PLoS ONE | 2010 |
| 20684011 | Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7. | Am J Med Genet A | 2010 |
| 20818383 | High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. | Nat Genet | 2010 |
| 20036594 | Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1). | Molecular Genetics and Metabolism | 2010 |
| 20452996 | Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. | J Med Genet | 2010 |
| 20648244 | Periventricular heterotopia in common microdeletion syndromes. | Molecular Syndromology | 2010 |
| 20670697 | De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features. | Eur J Med Genet | 2010 |
| 19772934 | 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. | European Journal of Medical Genetics | 2009 |
| 19447831 | Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. | J Med Genet | 2009 |
| 19306953 | Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. | Eur J Med Genet | 2009 |
| 19533800 | Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature. | American Journal of Medical Genetics, Part A | 2009 |
| 19610086 | Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment. | American Journal of Medical Genetics, Part A | 2009 |
| 19423733 | Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15. | Clinical Chemistry | 2009 |
| 19015223 | Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice. | J Med Genet | 2009 |
| 18438967 | Prenatal detection of deletion-duplication of chromosome 3 arising from meiotic recombination of a familial pericentric inversion. | Prenatal Diagnosis | 2008 |
| 17106871 | High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy. | American Journal of Medical Genetics, Part A | 2006 |
| 16170807 | Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay. | Human Mutation | 2005 |
| 15241798 | Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method. | Human Mutation | 2004 |
| 14684689 | Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA). | Journal of Medical Genetics | 2003 |