M. Gabbett

发表

Waiting for a diagnosis in Rubinstein–Taybi: The journey from “ignorance is bliss” to the value of “a label”

J. Fleming, L. Humphreys, M. Peterson, 2020, American journal of medical genetics. Part A.

A protocol for the identification and validation of novel genetic causes of kidney disease

R. Taft, G. Rangan, E. Wolvetang, 2015, BMC Nephrology.

Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay

J. Hurst, A. Wilkie, D. Jenkins, 2011, Human mutation.

Multisystem Inflammation and Susceptibility to Viral infections in Human ZNFX1 Deficiency.

H. Omran, R. Geha, J. Chou, 2021, The Journal of allergy and clinical immunology.

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

C. Krarup, F. Muntoni, P. Ruben, 2015, Brain : a journal of neurology.

Mutation update for the PORCN gene

R. Hennekam, J. Celli, R. Śmigiel, 2011, Human mutation.

Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis

E. Haan, F. McKenzie, G. Turner, 2014, Twin Research and Human Genetics.

Wilms’ tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism

J. Kallijärvi, D. Mowat, R. Hämäläinen, 2006, Clinical genetics.

Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning.

G. Montgomery, N. Fisk, Y. Sapkota, 2019, The New England journal of medicine.

Severe hypertension—An infantile feature of Jansen metaphyseal chondrodysplasia?

P. Gray, M. Gabbett, C. Jeavons, 2020, American journal of medical genetics. Part A.

Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration

B. Kamien, M. Gabbett, 2009, American journal of medical genetics. Part A.

Temple–Baraitser syndrome: A rare and possibly unrecognized condition

G. Mortier, B. Menten, A. Verloes, 2010, American journal of medical genetics. Part A.

A second case of severe mental retardation and absent nails of hallux and pollex (Temple–Baraitser syndrome)

M. Gabbett, R. Clark, J. McGaughran, 2008, American journal of medical genetics. Part A.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Beth K. Martin, Martin, J. Shendure, 2016, JCI insight.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

J. Shendure, Martin Kircher, K. Devriendt, 2016, JCI insight.

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

S. Grimmond, R. Taft, A. Verloes, 2015, Nature Genetics.

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

S. Robertson, K. Wimmer, M. Nyström, 2012, European Journal of Human Genetics.

Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic

H. Heussler, D. Mordaunt, M. Gabbett, 2014, Children.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

R. Hennekam, L. Biesecker, J. Graham, 2010, Human mutation.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

N. Brown, F. McKenzie, W. Lattanzi, 2017, Genetics in Medicine.

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.

Characteristics of Queensland physicians and the influence of rural exposure on practice location

D. Eley, M. Waller, A. MacKenzie, 2016, Internal medicine journal.

Septo-optic dysplasia and associations with amyoplasia and gastroschisis.

B. Kamien, A. Zankl, M. Gabbett, 2010, Birth defects research. Part A, Clinical and molecular teratology.

Characterizing the oculoauriculofrontonasal syndrome

S. Robertson, S. Aftimos, M. Nezarati, 2008, Clinical dysmorphology.

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.

The oculoauriculovertebral spectrum: Refining the estimate of birth prevalence

M. Gabbett, 2012, Journal of Pediatric Genetics.

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA

Alice R. Clark, A. R. Clark, S. Robertson, 2015, Journal of Molecular Medicine.

Correction: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

S. Grimmond, R. Taft, A. Verloes, 2015, Nature Genetics.

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

S. Grimmond, R. Taft, A. Verloes, 2014, Nature Genetics.

Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia

J. Boyle, A. Newson, M. Gabbett, 2018, Twin Research and Human Genetics.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

N. Brown, E. Haan, F. McKenzie, 2018, Genetics in Medicine.

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

R. Taft, J. Crawford, C. Simons, 2016, American journal of medical genetics. Part A.

Human Mutation MUTATION UPDATE Mutation Update for the PORCN Gene

R. Hennekam, J. Celli, R. Śmigiel, 2011 .

Neonatal severe hyperparathyroidism: An important clue to the aetiology

D. Sillence, M. Wilson, M. Gabbett, 2006, Journal of paediatrics and child health.