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/vufind/Search/Results?lookfor=%22Baldridge%2C+Dustin%22&type=Person&sort=year
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PubPharm (106)
1
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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2
The Brain Gene Registry : a data snapshot
enthalten in:
Journal of neurodevelopmental disorders
| 2024
von
Baldridge, D.
|
Kaster, L.
|
Sancimino, C.
| +61
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3
The Brain Gene Registry: a data snapshot
enthalten in:
Journal of neurodevelopmental disorders
| 2024
von
Baldridge, D.
|
Kaster, L.
|
Sancimino, C.
| +16
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4
Clinical variants paired with phenotype : A rich resource for brain gene curation
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Chopra, M.
|
Savatt, J.
|
Bingaman, T.
| +40
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5
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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6
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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7
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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8
Exome and genome sequencing in a heterogeneous population of patients with rare disease : Identifying predictors of a diagnosis
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Pucel, J.
|
Briere, L.
|
Reuter, C.
| +103
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9
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Forghani, I.
|
Lang, S.
|
Rodier, M.
| +106
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10
LUSTR : a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
enthalten in:
BMC genomics
| 2024
von
Lu, J.
|
Toro, C.
|
Adams, D.
| +107
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American journal of medical genetics. Part A
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bioRxiv.org
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American Journal of Medical Genetics Part C: Se...
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Journal of bone and mineral research
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Thema
76
Journal Article
57
Research Support, N.I.H., Extramural
48
Research Support, Non-U.S. Gov't
18
Case Reports
7
Carrier Proteins
7
Research Support, N.I.H., Intramural
7
intellectual disability
6
EC 3.6.1.-
5
Neurodevelopmental disorders
5
developmental delay
4
EC 2.7.11.1
3
Actins
3
C. elegans
3
DNA-Binding Proteins
3
Drosophila
3
EC 2.1.1.-
3
EC 3.6.5.2
3
EC 5.2.1.-
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Meta-Analysis
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Methyltransferases
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Erscheinungszeitraum
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2020-
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2010-2019
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