T. Dudding-Byth

发表

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Peter N. Robinson, M. Reijnders, J. Hehir-Kwa, 2019, Front. Genet..

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

J. Rosenfeld, I. Scheffer, H. Mefford, 2016, American journal of human genetics.

A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing

R. Scott, G. Baynam, B. Kamien, 2018, Molecular Syndromology.

Analgesic use and the risk of renal cell carcinoma - Findings from the Consortium for the Investigation of Renal Malignancies (CONFIRM) study.

D. English, G. Giles, G. Severi, 2021, Cancer epidemiology.

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability

B. D. de Vries, B. Lovell, H. Brunner, 2017, BMC Biotechnology.

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

M. Tarnopolsky, K. Boycott, B. Kamien, 2017, Orphanet Journal of Rare Diseases.

Experiences of non‐invasive prenatal screening: A survey study

L. Campbell, T. Dudding-Byth, R. Fyfe, 2021, The Australian & New Zealand journal of obstetrics & gynaecology.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.

R. Scott, M. Digilio, C. Meldrum, 2015, European journal of medical genetics.

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients

T. Dudding-Byth, T. Sahoo, R. Slim, 2018, Modern Pathology.

Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature

J. Clayton-Smith, B. Kamien, T. Dudding-Byth, 2017, American journal of medical genetics. Part A.

Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing

T. Dudding-Byth, D. Phelan, M. Field, 2019, International journal of molecular sciences.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Rebecca C. Spillmann, C. Cytrynbaum, R. Weksberg, 2022, American journal of human genetics.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

L. Pasquier, T. Dudding-Byth, C. Shoubridge, 2022, Clinical genetics.

A powerful team: the family physician advocating for patients with a rare disease.

T. Dudding-Byth, Tracy Dudding-Byth, 2015, Australian family physician.

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families

M. Brown, E. Duncan, T. Dudding-Byth, 2016, Human mutation.

Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability

M. Shaw, J. Gécz, C. Schwartz, 2021, Human mutation.

IQSEC2 mutation update and review of the female‐specific phenotype spectrum including intellectual disability and epilepsy

T. Dudding-Byth, C. Shoubridge, R. Harvey, 2018, Human mutation.

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

K. Friend, M. Shaw, J. Gécz, 2018, Human molecular genetics.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

J. Rosenfeld, M. Shaw, J. Gécz, 2017, American journal of human genetics.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance

Bassem A. Hassan, J. Gécz, T. Préat, 2021, Life Science Alliance.

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

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

Methylation analysis and developmental profile of two individuals with Angelman syndrome due to mosaic imprinting defects.

T. Dudding-Byth, A. Sadhwani, W. Tan, 2022, European journal of medical genetics.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, Carol J. Saunders, J. Rosenfeld, 2022, Molecular Psychiatry.

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

H. Mefford, J. Gécz, T. Strom, 2018, Human mutation.

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

K. Friend, J. Gécz, M. Stratton, 2015, Journal of Medical Genetics.

B. D. de Vries, S. Mehta, E. van Binsbergen, 2023, Clinical genetics.

Rapid whole‐genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease

J. Christodoulou, T. Dudding-Byth, Z. Stark, 2023, Pediatric blood & cancer.

Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.

M. Digilio, C. Meldrum, B. Kamien, 2015, European journal of medical genetics.