Concepedia

Lara Abulhoul

LA

Statistics

Publications

11

Citations

1.5K

H-Index

11

Active since

2011

Affiliations

University College London(Current)

Great Ormond Street Hospital

Great Ormond Street Hospital for Children NHS Foundation Trust

National Hospital for Neurology and Neurosurgery

Evelina London Children's Healthcare

Lara Abulhoul is an author at University College London specializing in life sciences, genetic disorders, and genetics.

Publications per year

2011–2020

11

Publications

11

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

, , +17

Germline selection shapes human mitochondrial DNA diversity

Wei Wei, Salih Tuna, Michael J. Keogh et al. · Science · 2019 · 251 citations · Full text

, , +15

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu et al. · Journal of Medical Genetics · 2013 · 165 citations · Full text

, , +14

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

Alexander Broomfield, Mary G. Sweeney, Cathy E. Woodward et al. · Journal of Inherited Metabolic Disease · 2014 · 136 citations · Full text

, , +9

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

Sacha Ferdinandusse, Hans R. Waterham, Simon Heales et al. · Orphanet Journal of Rare Diseases · 2013 · 89 citations · Full text

, , +17

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