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PubPharm (69)
1
A
de novo
variant in
PAK2
detected in an individual with Knobloch type 2 syndrome
enthalten in:
bioRxiv.org
| 2024
von
Werren, E.
|
Kalsner, L.
|
Ewald, J.
| +8
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2
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
enthalten in:
bioRxiv.org
| 2024
von
Rehm, H.
|
Alaimo, J.
|
Aradhya, S.
| +59
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3
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
enthalten in:
bioRxiv.org
| 2024
von
Felker, S.
|
Lawlor, J.
|
Hiatt, S.
| +15
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4
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly
enthalten in:
Human genetics
| 2024
von
Herbst, C.
|
Bothe, V.
|
Wegler, M.
| +27
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5
Genetic sex validation for sample tracking in next-generation sequencing clinical testing
enthalten in:
BMC research notes
| 2024
von
Hu, J.
|
Korchina, V.
|
Zouk, H.
| +127
UpdateOf: Res Sq. 2023 Sep 11;:. - PMID 37790445
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6
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly
enthalten in:
Human genetics
| 2024
von
Herbst, C.
|
Bothe, V.
|
Wegler, M.
| +27
Wird geladen...
7
Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program
enthalten in:
Anesthesiology
| 2024
von
Yu, K.
|
Betts, M.
|
Urban, G.
| +11
ErratumIn: Anesthesiology. 2024 Feb 20;:. - PMID 38376144
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8
Low adenoma burden in unselected patients with a pathogenic APC variant
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
Schwiter, R.
|
Rocha, H.
|
Johns, A.
| +5
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9
The landscape of reported VUS in multi-gene panel and genomic testing : Time for a change
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
Rehm, H.
|
Alaimo, J.
|
Aradhya, S.
| +69
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10
Genetic Sex Validation for Sample Tracking in Clinical Testing
enthalten in:
Research square
| 2023
von
Hu, J.
|
Korchina, V.
|
Zouk, H.
| +26
UpdateIn: BMC Res Notes. 2024 Mar 3;17(1):62. - PMID 38433186
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Genetics in medicine : official journal of the ...
5
bioRxiv.org
4
Circulation. Genomic and precision medicine
3
BMC medical genetics
3
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3
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3
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American journal of clinical pathology
2
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2
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2
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1
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1
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1
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1
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Thema
39
Journal Article
17
Research Support, Non-U.S. Gov't
16
Research Support, N.I.H., Extramural
6
Pediatrics
5
Genetic testing
4
Genomic screening
4
Lynch syndrome
4
electronic health records
3
570
3
Actionability
3
Age of onset
3
Biology
3
Disease severity
3
Genomic medicine
3
Genomics
3
Incidental findings
3
MEN 1
3
MEN 2
3
Medullary thyroid cancer
3
PKP2 protein, human
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Erscheinungszeitraum
68
2000-
1
1900-1999
Erscheinungsjahr(e)
Von:
Bis:
Sprache
60
Englisch
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