D. Hunt

发表

Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting

R. Pengelly, Thahmina Alom, Zijian Zhang, 2017, Scientific Reports.

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Adam C Gunning, D. Baralle, C. Mercer, 2020, Genetics in Medicine.

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.

Ectopic vortex veins and varices in Donnai Barrow syndrome

Rachel H Horton, D. Hunt, R. Gilbert, 2021, Ophthalmic genetics.

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.

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

Diana Baralle, David Hunt, Peter D Turnpenny, 2014, Journal of Medical Genetics.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo

D. Baralle, A. Debant, S. Schmidt, 2023, Molecular Psychiatry.

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

N. Brown, A. Toutain, M. Shinawi, 2021, Human molecular genetics.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

I. Scheffer, H. Mefford, E. Zackai, 2018, American journal of human genetics.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Arthur S. Lee, Hiromi Hirata, D. Baralle, 2019, Human mutation.

Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia

G. Carlsson, J. Brandsma, N. S. Thomas, 2021, European Respiratory Journal.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Sahar Mansour, Dierk Niessing, James J Dowling, 2017, Journal of Medical Genetics.

Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm

C. Mercer, E. Seaby, R. Pengelly, 2017, Front. Pediatr..

Unexpected findings in a child with atypical HUS : an example of how genomics is changing the clinical diagnostic paradigm

C. Mercer, E. Seaby, R. Pengelly, 2022 .

Clinical efficacy of a next‐generation sequencing gene panel for primary immunodeficiency diagnostics

C. Mattocks, R. Pengelly, D. Hunt, 2018, Clinical genetics.

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

M. Reijnders, D. Baralle, P. Selber, 1993 .

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

D. Baralle, C. Mercer, S. Mehta, 2020, Genetics in Medicine.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

H. Mefford, G. Cooper, N. Paul, 2019, American journal of human genetics.

Comparison of Mendeliome exome capture kits for use in clinical diagnostics

David Hunt, Reuben J. Pengelly, Daniel Ward, 2020, Scientific Reports.

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.

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases

S. Robertson, A. Collins, A. Goriely, 2017, Human Mutation.

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

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

Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis

D. Baralle, S. Mansour, S. Douzgou, 2022, Human mutation.

Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

N. S. Thomas, D. Hunt, V. Mennella, 2021, BMC Medical Genomics.

A panel-agnostic strategy ‘HiPPo’ improves diagnostic efficiency in the UK Genome Medicine Service

H. Rehm, D. Baralle, A. O’Donnell-Luria, 2023, medRxiv.

Expanding the neurodevelopmental phenotype of PURA syndrome

M. Reijnders, D. Baralle, L. Bennetto, 2018, American journal of medical genetics. Part A.

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

A. Need, C. Tregidgo, J. Clayton-Smith, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region

A. Collins, J. Barber, D. Hunt, 2020, Cytogenetic and Genome Research.

Comparison of Mendeliome exome capture kits for use in clinical diagnostics

C. Mattocks, R. Pengelly, D. Hunt, 2020, Scientific Reports.

RNA sequencing uplifts diagnostic rate in undiagnosed rare disease patients

D. Baralle, N. S. Thomas, D. Hunt, 2023, medRxiv.