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H. Goullée · SciRah

Researcher profile · Semantic Scholar

H. Goullée

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H. Goullée — researcher profile on SciRah

h-index: 12
Works: 23
Citations: 376

Most-cited papers

Bi‐allelic mutations in MYL1 cause a severe congenital myopathy
G. Ravenscroft, I. Zaharieva, C. Bortolotti, M. Lambrughi +16 more
2018Human Molecular Genetics43 citations Open access
Semantic Scholar
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor
A. Kariminejad, M. Dahl-Halvarsson, G. Ravenscroft, Fariba Afroozan +7 more
2017Brain : a journal of neurology42 citations Open access
Semantic Scholar
Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction
Richard G. Lee, M. Sedghi, M. Salari, A. Shearwood +7 more
2018Neurology: Genetics41 citations Open access
Semantic Scholar
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy
M. Cabrera-Serrano, D. Coote, D. Azmanov, H. Goullée +11 more
2020Journal of Medical Genetics36 citations Open access
Semantic Scholar
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
C. Weihl, A. Töpf, R. Bengoechea, J. Duff +18 more
2022bioRxiv27 citations Open access
Semantic Scholar
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3
D. Osborn, L. Emrahi, Joshua S. Clayton, Mehrnoush Toufan Tabrizi +13 more
2020Genetics in Medicine27 citations Open access
Semantic Scholar
Variable cardiac α-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation.
J. Boutilier, R. Taylor, R. Ram, E. McNamara +8 more
2017Biochimica et Biophysica Acta. Gene Regulatory Mechanisms27 citations Open access
Semantic Scholar
Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis
M. Cabrera-Serrano, L. Caccavelli, M. Savarese, A. Vihola +32 more
2021bioRxiv25 citations Open access
Semantic Scholar
Polymorphisms in CAMKK2 may predict sensory neuropathy in African HIV patients
H. Goullée, A. Wadley, C. Cherry, R. Allcock +3 more
2016Journal of Neurovirology24 citations Open access
Semantic Scholar
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
M. Sedghi, M. Salari, A. Moslemi, A. Kariminejad +5 more
2018Neurology: Genetics16 citations Open access
Semantic Scholar
The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders
S. Beecroft, P. Lamont, S. Edwards, H. Goullée +3 more
2020Molecular Diagnosis & Therapy14 citations
Semantic Scholar
Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.
E. McNamara, R. Taylor, Joshua S. Clayton, H. Goullée +8 more
2019Human Molecular Genetics14 citations Open access
Semantic Scholar
Susceptibility to non-tuberculous mycobacterial disease is influenced by rs1518111 in IL10.
Samuel Halstrom, R. Thomson, H. Goullée, S. Baltic +3 more
2017Human Immunology11 citations Open access
Semantic Scholar
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb
J. Laitila, E. McNamara, C. Wingate, H. Goullée +16 more
2020Acta Neuropathologica Communications9 citations Open access
Semantic Scholar
Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel
H. Goullée, R. Taylor, A. Forrest, N. Laing +2 more
2021Skeletal Muscle8 citations Open access
Semantic Scholar
A haplotype spanning P2X7R, P2X4R and CAMKK2 may mark susceptibility to pulmonary non-tuberculous mycobacterial disease
Samuel Halstrom, C. Cherry, Michael Black, R. Thomson +5 more
2017Immunogenetics8 citations
Semantic Scholar
Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy
Joshua S. Clayton, E. McNamara, H. Goullée, S. Conijn +12 more
2020Acta Neuropathologica Communications5 citations Open access
Semantic Scholar
Polymorphisms in CAMKK2 may predict sensory neuropathy in African HIV patients
H. Goullée, A. Wadley, C. Cherry, R. Allcock +3 more
2016Journal of Neurovirology4 citations Open access
Semantic Scholar
Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel
H. Goullée, R. Taylor, A. Forrest, N. Laing +2 more
2021Skeletal Muscle1 citations Open access
Semantic Scholar
CONGENITAL MYOPATHIES 1 – NEMALINE
J. Clayton, E. McNamara, H. Goullée, S. Conijn +12 more
2020Neuromuscular Disorders0 citations
Semantic Scholar
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor
A. Kariminejad, M. Dahl-Halvarsson, G. Ravenscroft, G. Ravenscroft +9 more
20190 citations
Semantic Scholar
CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES
J. Laitila, E. McNamara, H. Goullée, C. Wingate +10 more
2018Neuromuscular Disorders0 citations
Semantic Scholar
Utility of a next-generation sequencing (NGS)-based neuromuscular disease gene panel in an investigation of 30 families with early-onset presentation from a tertiary pediatric neuromuscular clinic
D. Ardıçlı, K. Nowak, G. Haliloglu, H. Goullée +4 more
20170 citations
Semantic Scholar

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