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Riley, Lisa G.
4586  Ergebnisse:
Personensuche X
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1

A founder variant expands the phenotype of WNT7B‐related PD..:

AlAbdi, Lama ; Rahbeeni, Zuhair ; Maddirevula, Sateesh...
Clinical Genetics.  106 (2024)  1 - p. 66-71 , 2024
Link: https://doi.org/10.1111/..
 
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2

Genome sequencing enables diagnosis and treatment of SLC5A6..:

Riley, Lisa G. ; Sabui, Subrata ; Said, Hamid M....
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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3

Biallelic ATP2B1 variants as a likely cause of a novel neur..:

Yap, Patrick ; Riley, Lisa G. ; Kakadia, Purvi M....
European Journal of Human Genetics.  32 (2023)  1 - p. 125-129 , 2023
Link: https://doi.org/10.1038/..
 
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4

FGF21 outperforms GDF15 as a diagnostic biomarker of mitoch..:

Riley, Lisa G. ; Nafisinia, Michael ; Menezes, Minal J....
Molecular Genetics and Metabolism.  135 (2022)  1 - p. 63-71 , 2022
Link: https://doi.org/10.1016/..
 
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5

Standardized practices for RNA diagnostics using clinically..:

Bournazos, Adam M. ; Riley, Lisa G. ; Bommireddipalli, Shobhana...
Genetics in Medicine.  24 (2022)  1 - p. 130-145 , 2022
Link: https://doi.org/10.1016/..
 
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6

LARS2 variants can present as premature ovarian insufficien..:

Neyroud, Anne Sophie ; Rudinger-Thirion, Joëlle ; Frugier, Magali...
European Journal of Human Genetics.  31 (2022)  4 - p. 453-460 , 2022
Link: https://doi.org/10.1038/..
 
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7

Human iPSC-Derived Retinal Organoids and Retinal Pigment Ep..:

Chahine Karam, Fidelle ; Loi, To Ha ; Ma, Alan...
Journal of Personalized Medicine.  12 (2022)  3 - p. 502 , 2022
Link: https://doi.org/10.3390/..
 
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8

Deleterious variants in CRLS1 lead to cardiolipin deficienc..:

Lee, Richard G ; Balasubramaniam, Shanti ; Stentenbach, Maike...
Human Molecular Genetics.  31 (2022)  21 - p. 3597-3612 , 2022
Link: https://doi.org/10.1093/..
 
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9

A case of QARS1 associated epileptic encephalopathy and rev..:

Chan, Denise L. ; Rudinger-Thirion, Joëlle ; Frugier, Magali...
Brain and Development.  44 (2022)  2 - p. 142-147 , 2022
Link: https://doi.org/10.1016/..
 
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10

Biallelic pathogenic variants inCOX11are associated with an..:

Rius, Rocio ; Bennett, Neal K. ; Bhattacharya, Kaustuv...
Human Mutation.  43 (2022)  12 - p. 1970-1978 , 2022
Link: https://doi.org/10.1002/..
 
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11

Functional interaction between compound heterozygous TERT m..:

Niaz, Aram ; Truong, Jia ; Manoleras, Annabel...
Blood Advances.  6 (2022)  12 - p. 3779-3791 , 2022
Link: https://doi.org/10.1182/..
 
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12

Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive..:

Zech, Michael ; Kumar, Kishore R. ; Reining, Sophie...
Movement Disorders.  37 (2021)  1 - p. 137-147 , 2021
Link: https://doi.org/10.1002/..
 
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13

A novel RLIM/RNF12 variant disrupts protein stability and f..:

Bustos, Francisco ; Espejo-Serrano, Carmen ; Segarra-Fas, Anna...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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14

The diagnostic utility of genome sequencing in a pediatric ..:

Riley, Lisa G. ; Cowley, Mark J. ; Gayevskiy, Velimir...
Genetics in Medicine.  22 (2020)  7 - p. 1254-1261 , 2020
Link: https://doi.org/10.1038/..
 
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15

The expandingLARS2phenotypic spectrum: HLASA, Perrault synd..:

Riley, Lisa G. ; Rudinger‐Thirion, Joëlle ; Frugier, Magali...
Human Mutation.  41 (2020)  8 - p. 1425-1434 , 2020
Link: https://doi.org/10.1002/..
 
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