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/vufind/Search/Results?lookfor=%22Beggs%2C+Alan+H.%22&type=Person&sort=year
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PubPharm (488)
1
Host genome analysis of structural variations by Optical Genome Mapping provides clinically valuable insights into genes implicated in critical immune, viral infection, and viral replication pathways in patients with severe COVID-19
enthalten in:
bioRxiv.org
| 2024
von
Sahajpal, N.
|
Lai, C.
|
Hastie, A.
| +18
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2
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
enthalten in:
bioRxiv.org
| 2024
von
Lemire, G.
|
Sanchis-Juan, A.
|
Russell, K.
| +61
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3
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism
enthalten in:
Annals of clinical and translational neurology
| 2024
von
Dohrn, M.
|
Bademci, G.
|
Rebelo, A.
| +110
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4
High number of candidate gene variants are identified as disease-causing in a period of 4 years
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Hills, S.
|
Li, Q.
|
Madden, J.
| +5
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5
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
enthalten in:
American journal of human genetics
| 2024
von
Lemire, G.
|
Sanchis-Juan, A.
|
Russell, K.
| +61
UpdateOf: medRxiv. 2023 Oct 05;:. - PMID 37873196
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6
Titin copy number variations associated with dominant inherited phenotypes
enthalten in:
Journal of medical genetics
| 2024
von
Perrin, A.
|
Métay, C.
|
Savarese, M.
| +30
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7
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Ezell, K.
|
Tinker, R.
|
Furuta, Y.
| +110
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8
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
enthalten in:
Annals of clinical and translational neurology
| 2024
von
Donkervoort, S.
|
Mohassel, P.
|
O'Leary, M.
| +121
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9
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
enthalten in:
Nature genetics
| 2024
von
Töpf, A.
|
Cox, D.
|
Zaharieva, I.
| +82
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10
De novo variants in DENND5B cause a neurodevelopmental disorder
enthalten in:
American journal of human genetics
| 2024
von
Scala, M.
|
Tomati, V.
|
Ferla, M.
| +134
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20
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20
myotubularin
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