Jordan C Wood
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Explore the profile of Jordan C Wood including associated specialties, affiliations and a list of published articles.
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5
Citations
120
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Recent Articles
1.
Wood J, Gochyyev P, Santoro S
Am J Med Genet A
. 2024 Aug;
197(1):e63850.
PMID: 39205605
Adults with Down syndrome (DS) have unique health care needs with evidence-based care guidelines to address these. Yet, the 2020 adult guidelines were unstudied; we aimed to assess adherence to...
2.
Singer-Berk M, Gudmundsson S, Baxter S, Seaby E, England E, Wood J, et al.
Am J Hum Genet
. 2023 Aug;
110(9):1496-1508.
PMID: 37633279
Predicted loss of function (pLoF) variants are often highly deleterious and play an important role in disease biology, but many pLoF variants may not result in loss of function (LoF)....
3.
Singer-Berk M, Gudmundsson S, Baxter S, Seaby E, England E, Wood J, et al.
medRxiv
. 2023 Mar;
PMID: 36945502
Predicted loss of function (pLoF) variants are highly deleterious and play an important role in disease biology, but many of these variants may not actually result in loss-of-function. Here we...
4.
Ellingford J, Ahn J, Bagnall R, Baralle D, Barton S, Campbell C, et al.
Genome Med
. 2022 Jul;
14(1):73.
PMID: 35850704
Background: The majority of clinical genetic testing focuses almost exclusively on regions of the genome that directly encode proteins. The important role of variants in non-coding regions in penetrant disease...
5.
ODonnell-Luria A, Pais L, Faundes V, Wood J, Sveden A, Luria V, et al.
Am J Hum Genet
. 2019 May;
104(6):1210-1222.
PMID: 31079897
We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and...