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Wakeling, Emma L.
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1

A targeted gene panel illuminates pathogenesis in young peo..:

Beal, Felicity ; Forrester, Natalie ; Watson, Elizabeth...
Journal of Nephrology.  , 2024
Link: https://doi.org/10.1007/..
 
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2

Further description of two individuals with de novo p.(Glu1..:

Malbos, Marlène ; Wakeling, Emma ; Gautier, Thierry...
Clinical Genetics.  105 (2024)  5 - p. 555-560 , 2024
Link: https://doi.org/10.1111/..
 
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3

Body Composition and Metabolism in Adults With Molecularly ..:

Lokulo-Sodipe, Oluwakemi ; Inskip, Hazel M ; Byrne, Christopher D...
The Journal of Clinical Endocrinology & Metabolism.  , 2024
Link: https://doi.org/10.1210/..
 
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4

De novo PHF5A variants are associated with craniofacial abn..:

Harms, Frederike L. ; Dingemans, Alexander J.M. ; Hempel, Maja...
Genetics in Medicine.  25 (2023)  10 - p. 100927 , 2023
Link: https://doi.org/10.1016/..
 
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5

Expanding the phenotype of children presenting with hypoven..:

Sabanathan, Saraswathy ; Gulhane, Deepti ; Mankad, Kshitij...
Neuromuscular Disorders.  33 (2023)  1 - p. 50-57 , 2023
Link: https://doi.org/10.1016/..
 
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6

Clinical and molecular characterization of novel FARS2 vari..:

Chen, Wenqian ; Rehsi, Preeya ; Thompson, Kyle...
Molecular Genetics and Metabolism.  140 (2023)  3 - p. 107657 , 2023
Link: https://doi.org/10.1016/..
 
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7

Primate-specific ZNF808 is essential for pancreatic develop..:

De Franco, Elisa ; Owens, Nick D. L. ; Montaser, Hossam...
Nature Genetics.  55 (2023)  12 - p. 2075-2081 , 2023
Link: https://doi.org/10.1038/..
 
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8

De novo PHF5A variants are associated with craniofacial abn..:

Harms, Frederike L. ; Dingemans, Alexander J.M. ; Hempel, Maja...
Genetics in Medicine.  25 (2023)  11 - p. 100964 , 2023
Link: https://doi.org/10.1016/..
 
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9

A novel ELP1 mutation impairs the function of the Elongator..:

Kojic, Marija ; Abbassi, Nour E. H. ; Lin, Ting-Yu...
Journal of Human Genetics.  68 (2023)  7 - p. 445-453 , 2023
Link: https://doi.org/10.1038/..
 
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10

Expanding the allelic spectrum of ELOVL4‐related autosomal ..:

Alabdulrazzaq, Fatima ; Alanzi, Talal ; Al‐Balool, Haya H....
Molecular Genetics & Genomic Medicine.  11 (2023)  12 - p. , 2023
Link: https://doi.org/10.1002/..
 
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11

Genome sequencing and comprehensive rare-variant analysis o..:

Sanchis-Juan, Alba ; Megy, Karyn ; Stephens, Jonathan...
The American Journal of Human Genetics.  110 (2023)  8 - p. 1343-1355 , 2023
Link: https://doi.org/10.1016/..
 
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12

Combined novel homozygous variants in both SGPL1 and STAT1 ..:

Roa-Bautista, Adriel ; Sohail, Mahreen ; Wakeling, Emma...
Frontiers in Immunology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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13

Craniosynostosis, inner ear, and renal anomalies in a child..:

Tooze, Rebecca S ; Calpena, Eduardo ; Twigg, Stephen R F...
Journal of Medical Genetics.  60 (2022)  7 - p. 712-716 , 2022
Link: https://doi.org/10.1136/..
 
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14

Height and body mass index in molecularly confirmed Silver–..:

Lokulo‐Sodipe, Oluwakemi ; Giabicani, Eloïse ; Canton, Ana P. M....
Clinical Endocrinology.  97 (2022)  3 - p. 284-292 , 2022
Link: https://doi.org/10.1111/..
 
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15

STXBP1 Stop‐Loss Mutation Associated with Complex Early Ons..:

Spaull, Robert ; Steel, Dora ; Barwick, Katy...
Movement Disorders Clinical Practice.  9 (2022)  6 - p. 837-840 , 2022
Link: https://doi.org/10.1002/..
 
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