Peter Diakumis

发表

Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia.

P. Lockhart, K. Leslie, J. Sleigh, 2019, Anesthesiology.

Neuropathology of childhood‐onset basal ganglia degeneration caused by mutation of VAC14

P. Lockhart, M. Bahlo, M. Meisler, 2017, Annals of clinical and translational neurology.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Katherine R. Smith, P. Lockhart, D. Zee, 2019, American journal of human genetics.

A family study implicates GBE1 in the etiology of autism spectrum disorder

Bradley P. Coe, B. Coe, N. Brown, 2021, Human mutation.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

Clonal multi-omics reveals Bcor as a negative regulator of emergency dendritic cell development.

Matthew E. Ritchie, L. Kats, M. Bahlo, 2021, Immunity.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Melanie Bahlo, Elsdon Storey, David Valle, 2019, American journal of human genetics.

SIS-seq, a molecular ‘time machine’, connects single cell fate with gene programs

M. Bahlo, M. Ritchie, T. Sargeant, 2018, bioRxiv.

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Katrien Stouffs, Melanie Bahlo, Holger Prokisch, 2016, American journal of human genetics.

KCTD1 and Scalp-Ear-Nipple (‘Finlay–Marks’) syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains

M. Bahlo, E. Fletcher, D. Colville, 2022, Ophthalmic genetics.

Validation of new tools to identify expanded repeats: an intronic pentamer expansion in RFC1 causes CANVAS

Melanie Bahlo, Elsdon Storey, David Valle, 2019, bioRxiv.