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Wallis, Mathew J.
82
results:
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Online (82)
Mediatypes
Articles (Online) (33)
OpenAccess-fulltext (49)
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1
A deep intronic variant in MME causes autosomal recessive C..:
Grosz, Bianca R.
;
Parmar, Jevin M.
;
Ellis, Melina
...
Journal of the Peripheral Nervous System. 29 (2024) 2 - p. 262-274 , 2024
Link:
https://doi.org/10.1111/..
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2
How the Australian Functional Genomics Network (AFGN) contr..:
Scott, Hamish S.
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Matotek, Ebony
;
Mattiske, Tessa
...
Pathology. 56 (2024) - p. S21-S22 , 2024
Link:
https://doi.org/10.1016/..
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3
A multitiered analysis platform for genome sequencing: Desi..:
Austin, Rachel
;
Brown, Jaye S.
;
Casauria, Sarah
...
Genetics in Medicine Open. 2 (2024) - p. 101842 , 2024
Link:
https://doi.org/10.1016/..
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4
Are Germline Mosaic TSC1/2 Variants Present in Controls? Im..:
Ye, Zimeng
;
Lin, Sufang
;
Zhao, Xia
...
Pediatric Neurology. 150 (2024) - p. 37-39 , 2024
Link:
https://doi.org/10.1016/..
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5
Implementation and Evaluation of a National Multidisciplina..:
Jayasinghe, Kushani
;
Biros, Erik
;
Harris, Trudie
...
Kidney International Reports. , 2024
Link:
https://doi.org/10.1016/..
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6
Integrated multi-omics for rapid rare disease diagnosis on ..:
Lunke, Sebastian
;
Bouffler, Sophie E.
;
Patel, Chirag V.
...
Nature Medicine. 29 (2023) 7 - p. 1681-1691 , 2023
Link:
https://doi.org/10.1038/..
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7
Correction: Genetic aetiologies for childhood speech disord..:
Kaspi, Antony
;
Hildebrand, Michael S.
;
Jackson, Victoria E.
...
Molecular Psychiatry. 28 (2023) 4 - p. 1664-1666 , 2023
Link:
https://doi.org/10.1038/..
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8
An intronic GAA repeat expansion in FGF14 causes the autoso..:
Rafehi, Haloom
;
Read, Justin
;
Szmulewicz, David J.
...
The American Journal of Human Genetics. 110 (2023) 1 - p. 105-119 , 2023
Link:
https://doi.org/10.1016/..
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9
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome ..:
Van Bergen, Nicole J.
;
Gunanayagam, Karen
;
Bournazos, Adam M.
...
International Journal of Molecular Sciences. 24 (2023) 4 - p. 3582 , 2023
Link:
https://doi.org/10.3390/..
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10
An intronic GAA repeat expansion in FGF14 causes the autoso..:
Rafehi, Haloom
;
Read, Justin
;
Szmulewicz, David J.
...
The American Journal of Human Genetics. 110 (2023) 6 - p. 1018 , 2023
Link:
https://doi.org/10.1016/..
?
11
Any symptom, in any organ, at any age: A case report of mul..:
Ratnayake, Chathri
;
Rius, Rocio
;
Wallis, Mathew
..
Nephrology. 27 (2022) 7 - p. 640-641 , 2022
Link:
https://doi.org/10.1111/..
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12
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Ty..:
Barbier, Mathieu
;
Bahlo, Melanie
;
Pennisi, Alessandra
...
Annals of Neurology. 92 (2022) 1 - p. 122-137 , 2022
Link:
https://doi.org/10.1002/..
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13
Genetic aetiologies for childhood speech disorder: novel pa..:
Kaspi, Antony
;
Hildebrand, Michael S.
;
Jackson, Victoria E.
...
Molecular Psychiatry. , 2022
Link:
https://doi.org/10.1038/..
?
14
The Australian Reproductive Genetic Carrier Screening Proje..:
Archibald, Alison D.
;
McClaren, Belinda J.
;
Caruana, Jade
...
Journal of Personalized Medicine. 12 (2022) 11 - p. 1781 , 2022
Link:
https://doi.org/10.3390/..
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15
Mosaicism in tuberous sclerosis complex: Lowering the thres..:
Ye, Zimeng
;
Lin, Sufang
;
Zhao, Xia
...
Human Mutation. 43 (2022) 12 - p. 1956-1969 , 2022
Link:
https://doi.org/10.1002/..
1-15