Meredith Wilson

发表

Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus

Bas E. Dutilh, Alexander Hoischen, Martijn A. Huynen, 2010, PLoS genetics.

The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA

Meredith Wilson, E. Beutler, M. Rhodes, 2006, British journal of haematology.

Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation

Meredith Wilson, H. Peters, R. Floettmann, 2016, American journal of medical genetics. Part A.

An Australian tuberous sclerosis cohort: Are surveillance guidelines being met?

Meredith Wilson, D. Mowat, O. Wargon, 2011, Journal of paediatrics and child health.

The negative impact of Alagille syndrome on survival of infants with pulmonary atresia.

Meredith Wilson, D. Winlaw, G. Sholler, 2007, The Journal of thoracic and cardiovascular surgery.

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

M. Shaw, J. Gécz, M. Stratton, 2010, European Journal of Human Genetics.

Neonatal Lethal Costello Syndrome and Unusual Dinucleotide Deletion/Insertion Mutations in HRAS Predicting p.Gly12Val

Soo-Mi Park, H. Firth, Meredith Wilson, 2012, American journal of medical genetics. Part A.

Sleep disturbance in Mowat–Wilson syndrome

Meredith Wilson, S. Einfeld, E. Evans, 2016, American journal of medical genetics. Part A.

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith–Magenis syndrome should contain the RAI1 gene

Meredith Wilson, C. Vlangos, Ann C M Smith, 2005, American journal of medical genetics. Part A.

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

M. Cowley, M. Dinger, A. Minoche, 2022, European Journal of Human Genetics.

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant

Beryl B. Cummings, D. MacArthur, B. Cummings, 2018, Human mutation.

The natural history and osteodystrophy of mucolipidosis types II and III

D. Sillence, J. Fletcher, Meredith Wilson, 2010, Journal of paediatrics and child health.

ZFHX1B mutations in patients with Mowat‐Wilson syndrome

Meredith Wilson, M. Goossens, N. Collot, 2007, Human mutation.

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

Meredith Wilson, J. Christodoulou, H. Leonard, 2012, European Journal of Human Genetics.

Recombinant parathyroid hormone therapy for severe neonatal hypoparathyroidism.

Meredith Wilson, Neville J. Howard, C. Munns, 2012, The Journal of pediatrics.

The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat–Wilson Syndrome

A. Kelleher, J. Zaunders, Meredith Wilson, 2021, International journal of molecular sciences.

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita

T. Vulliamy, N. Pontikos, Meredith Wilson, 2022, American journal of human genetics.

KBG syndrome: An Australian experience

M. Tekin, T. Roscioli, Meredith Wilson, 2017 .

Germline CBL mutation associated with a noonan‐like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23

R. Nash, S. Mansour, Meredith Wilson, 2014, American journal of medical genetics. Part A.

De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder

H. Firth, S. Ellard, T. Roscioli, 2022, Human mutation.

Delayed diagnosis of cystic fibrosis in children with a rare genotype (ΔF508/R117H)

Meredith Wilson, R. Henry, D. Fitzgerald, 1995 .

Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients

Meredith Wilson, M. Morel-Kopp, C. Ward, 2007, Thrombosis and Haemostasis.

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

M. Hurles, D. Grozeva, Soo-Mi Park, 2014, American journal of human genetics.

Noncoding copy-number variations are associated with congenital limb malformation

D. Horn, S. Mundlos, M. Spielmann, 2017, Genetics in Medicine.

The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults

Meredith Wilson, K. North, V. McKelvey-Martin, 2015, Journal of Genetic Counseling.

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

S. Sandaradura, Meredith Wilson, Anand Vasudevan, 2020, Genetics in Medicine.

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

N. Brown, S. Sandaradura, T. Roscioli, 2020, JAMA.

Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes

Ian Todd, Christopher I Amos, Massimo Gadina, 1999, Cell.

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

J. Clayton-Smith, L. Biesecker, Meredith Wilson, 2011, American journal of human genetics.

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

M. Cowley, M. Dinger, K. Holman, 2020, Genetics in Medicine.

Enzyme replacement therapy "drug holiday": results from an unexpected shortage of an orphan drug supply in Australia.

J. Fletcher, J. Szer, Meredith Wilson, 2011, Blood cells, molecules & diseases.

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

J. Lupski, Meredith Wilson, W. Bi, 2004, Human Genetics.

Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders

E. Liu, Y. Ruan, C. Lee, 2014, PloS one.

Kali T. Witherspoon, Bradley P. Coe, B. Coe, 2014, Nature Genetics.

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism

B. Coe, A. V. Vulto-van Silfhout, B. D. de Vries, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne–Kalscheuer syndrome

Meredith Wilson, K. Kernohan, Greg M. Findlay, 2020, Scientific Reports.

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

M. Cowley, G. Enns, Meredith Wilson, 2019, Journal of clinical medicine.

A negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency: a visual electrophysiology report

Meredith Wilson, C. Troedson, J. Grigg, 2015, Documenta Ophthalmologica.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

J. Rosenfeld, A. V. Vulto-van Silfhout, B. D. de Vries, 2019, Biological Psychiatry.

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

R. Pfundt, M. Fichera, C. Romano, 2010, European Journal of Human Genetics.

The clinical phenotype of mosaicism for genome‐wide paternal uniparental disomy: Two new reports

Meredith Wilson, G. McGillivray, G. Peters, 2008, American journal of medical genetics. Part A.

Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B

Dian Donnai, Cynthia Curry, Helena Kääriäinen, 2003, American journal of medical genetics. Part A.

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

I. Krantz, D. Dorsett, V. Siu, 2007, American journal of human genetics.

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

N. Laing, T. Roscioli, Meredith Wilson, 2020, European Journal of Human Genetics.

CHARGE syndrome: A review

Peter Hsu, Alan Ma, Meredith Wilson, 2014, Journal of paediatrics and child health.

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

E. Zackai, H. Hakonarson, W. Dobyns, 2020, American journal of medical genetics. Part A.

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

Jacob T. Munro, D. Humphreys, E. Giannoulatou, 2018, Genetics in Medicine.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

R. Pfundt, M. Fichera, C. Romano, 2010, European Journal of Human Genetics.

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease

Bruce Bennetts, N. Sobreira, Meredith Wilson, 2016, European Journal of Human Genetics.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level

J. Braithwaite, S. Sandaradura, Meredith Wilson, 2021, npj Genomic Medicine.

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

M. Cowley, M. Dinger, K. Holman, 2020, Genetics in Medicine.

The Immune Phenotype of Patients with CHARGE Syndrome.

L. Hoefsloot, T. Rinne, Meredith Wilson, 2016, The journal of allergy and clinical immunology. In practice.

Genome sequencing in families with congenital limb malformations

D. Horn, S. Mundlos, M. Spielmann, 2021, Human Genetics.

Neonatal nasal obstruction and a single maxillary central incisor

Meredith Wilson, P. Cooper, K. Neas, 2005, Journal of paediatrics and child health.

Congenital anterior glottic webs: a retrospective review of 59 cases with management and outcomes

A. Cheng, Meredith Wilson, A. Daniel, 2021 .

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

N. Laing, T. Roscioli, Meredith Wilson, 2020, European Journal of Human Genetics.

Early prenatal diagnosis of cartilage‐hair hypoplasia (CHH) with polymorphic DNA markers

D. Sillence, I. Kaitila, Meredith Wilson, 1995, Prenatal diagnosis.

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

E. Haan, D. David, I. Glass, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

K. Friend, I. Scheffer, M. Shaw, 2012, European Journal of Human Genetics.

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

E. Haan, A. Buckle, Meredith Wilson, 2018, Clinical Epigenetics.

The behavioral phenotype of Mowat–Wilson syndrome

B. Tonge, J. Taffe, Meredith Wilson, 2012, American journal of medical genetics. Part A.

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

E. Zackai, H. Hakonarson, Yiran Guo, 2021, Human Genetics.

Complex phenotypes in the haemoglobinopathies: recommendations on screening and DNA testing

Marcus J Hinchcliffe, R. Lindeman, Meredith Wilson, 2006, Pathology.

Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.

Meredith Wilson, A. Compton, D. Thorburn, 2011, Mitochondrion.

Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

R. Pfundt, M. Fichera, C. Romano, 2010, European Journal of Human Genetics.

A deep intronic SMARCB1 variant associated with schwannomatosis

S. Bhaskar, Meredith Wilson, A. Wallace, 2020, Clinical genetics.

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

T. Roscioli, Meredith Wilson, J. Christodoulou, 2020, Human mutation.

Clinically Responsive Genomic Analysis Pipelines: Elements to improve detection rate and efficiency.

S. Sandaradura, T. Roscioli, J. Fletcher, 2021, The Journal of molecular diagnostics : JMD.

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

Caitlin V. Miller, E. Bertini, R. Borgatti, 2021, Journal of Medical Genetics.

KIAA0586 is Mutated in Joubert Syndrome

J. Shendure, E. Boyle, Meredith Wilson, 2015, Human mutation.

Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre–Chotzen syndrome: An Australian multicenter study

T. Roscioli, Meredith Wilson, M. Caramins, 2009, Genes, chromosomes & cancer.

Chapter 35. Mowat-Wilson Syndrome

Meredith Wilson, D. Mowat, 2010 .

Recurrence of Mowat–Wilson syndrome in siblings with the same proven mutation

Meredith Wilson, M. Goossens, B. Sutton, 2005, American journal of medical genetics. Part A.

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients

H. Hakonarson, Yiran Guo, Sijie He, 2015, Clinical & experimental ophthalmology.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients

J. Crolla, I. Temple, Meredith Wilson, 2015, American journal of medical genetics. Part A.

Integrated multi-omics for rapid rare disease diagnosis on a national scale

S. Sandaradura, K. Kassahn, Meredith Wilson, 2023, Nature Medicine.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

A SEBACEOUS NEVUS IN A CHILD WITH THE NEVOID BASAL CELL CARCINOMA SYNDROME

Meredith Wilson, M. Rogers, 2000, Pediatric dermatology.

KBG syndrome: An Australian experience.

M. Tekin, T. Roscioli, Meredith Wilson, 2017, American journal of medical genetics. Part A.

X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.

D. Sillence, J. Mulley, Meredith Wilson, 1995, Journal of medical genetics.

The natural history and osteodystrophy of mucolipidosis types II and III

D. Sillence, J. Fletcher, Meredith Wilson, 2010, Journal of paediatrics and child health.

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

Jacob T. Munro, D. Humphreys, E. Giannoulatou, 2018, Genetics in Medicine.

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism

Bradley P. Coe, A. V. Vulto-van Silfhout, B. D. de Vries, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

Germline CBL mutation associated with a noonan‐like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23

R. Nash, S. Mansour, Meredith Wilson, 2014, American journal of medical genetics. Part A.

Recombinant parathyroid hormone therapy for severe neonatal hypoparathyroidism.

Meredith Wilson, Neville J. Howard, C. Munns, 2012, The Journal of pediatrics.