T. Whyte

Most-cited papers

1. The UK10K project identifies rare variants in health and disease

   Klaudia Walter, Josine L. Min, Jie Huang, L. Crooks +238 more

   2015Nature1,070 citations Open access

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2. Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

   Clare V. Logan, G. Szabadkai, J. Sharpe, David A. Parry +32 more

   2013Nature Genetics382 citations Open access

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3. SGK196 Is a Glycosylation-Specific O-Mannose Kinase Required for Dystroglycan Function

   Takako Yoshida-Moriguchi, T. Willer, M. Anderson, D. Venzke +6 more

   2013Science208 citations Open access

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4. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

   M. Wiessner, A. Roos, C. Munn, Ranjith Viswanathan +34 more

   2017American Journal of Human Genetics64 citations Open access

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5. Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

   A. Hendricks, E. Bochukova, G. Marenne, J. Keogh +266 more

   2017Scientific Reports61 citations Open access

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6. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

   M. Schmidts, Yu-Qing Hou, Claudio R. Cortés, D. A. Mans +183 more

   2015Nature Communications55 citations Open access

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7. 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

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8. ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.

   Urielle Ullmann, L. D'Argenzio, Shreya Mathur, T. Whyte +15 more

   2018Neuromuscular Disorders14 citations Open access

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9. P24 Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalling

   J. Sharpe, Clare V. Logan, G. Szabadkai, David A. Parry +32 more

   20142 citations Open access

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10. G.P.154

    T. Whyte, S. Çırak, I. Oprea, P. Beales +8 more

    20142 citations

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11. A.P.11

    S. Byrne, Istvan Bodi, C. Sewry, H. Goebel +16 more

    20141 citations

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12. Genetic purity and polymorphic marker evaluation of cowpea genotypes

    F. Awuku, F. Kusi, J. Eleblu, I. Asante +9 more

    2025African Crop Science Journal0 citations Open access

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13. UK 10 K Consortium

    S. Al Turki, A. Amuzu, C. Anderson, R. Anney +218 more

    20190 citations

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14. P75 Exome sequencing identifies EPG5 mutations in two siblings with a childhood onset vacuolar myopathy

    T. Whyte, Thomas Cullup, S. Robb, C. Sewry +2 more

    20140 citations

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15. A novel, EPG5-related vacuolar myopathy

    T. Whyte, S. Byrne, A. L. Kho, T. Cullup +8 more

    20140 citations

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16. Loss-of-function mutations in MICU 1 cause a brain and muscle disorder linked to primary alterations in mitochondrial Ca 2 + signalling

    Clare V. Logan, G. Szabadkai, J. Sharpe, David A. Parry +34 more

    20130 citations

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17. P.3.10 An unusual double trouble of coexisting distal myopathy and distal motor neuropathy uncovered by exome sequencing

    M. Scoto, S. Çırak, T. Whyte, A. Foley +6 more

    20130 citations

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