David A Stevenson
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Explore the profile of David A Stevenson including associated specialties, affiliations and a list of published articles.
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Articles
158
Citations
2712
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Recent Articles
1.
Wiley Z, Mahapatra S, Agarwal G, Baer S, Baer S, Bukhari S, et al.
J Investig Med
. 2025 Mar;
:10815589251327504.
PMID: 40022538
No abstract available.
2.
Cif L, Cif L, Demailly D, Demailly D, Lin J, Lin J, et al.
ArXiv
. 2025 Feb;
PMID: 39990802
Heterozygous mutations in are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial...
3.
Niehaus A, Stevenson D
Am J Med Genet A
. 2024 Nov;
197(3):e63916.
PMID: 39538988
There is limited information on rationale for the current training structure within combined Pediatrics-Medical Genetics and Genomics Residency (MGG) residency programs. This study addresses the benefits and drawbacks of different...
4.
Vong K, Lee S, Au K, Crowley T, Capra V, Martino J, et al.
Science
. 2024 May;
384(6695):584-590.
PMID: 38696583
Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida...
5.
Schildt A, Stevenson D, Yu L, Anguiano B, Suarez C
Am J Med Genet A
. 2023 Nov;
194(4):e63483.
PMID: 38017634
Exome and genome sequencing are clinically available, with many laboratories offering expedited testing (e.g., "rapid" and "ultra-rapid"). With the increase in uptake of expedited testing, there is a need for...
6.
Minguez-Vinas T, Prakash V, Wang K, Lindstrom S, Pozzi S, Scott S, et al.
J Physiol
. 2023 Oct;
601(23):5367-5389.
PMID: 37883018
Two KCNA2 variants (p.H310Y and p.H310R) were discovered in paediatric patients with epilepsy and developmental delay. KCNA2 encodes K 1.2-channel subunits, which regulate neuronal excitability. Both gain and loss of...
7.
Gross A, Plotkin S, Watts N, Fisher M, Klesse L, Lessing A, et al.
Clin Trials
. 2023 Sep;
21(1):29-39.
PMID: 37772407
Neurofibromatosis type 1 is a genetic syndrome characterized by a wide variety of tumor and non-tumor manifestations. Bone-related issues, such as scoliosis, tibial dysplasia, and low bone mineral density, are...
8.
Gates R, Webb B, Stevenson D, Jabs E, DeFilippo C, Ruzhnikov M, et al.
Am J Med Genet A
. 2023 Sep;
191(11):2743-2748.
PMID: 37675855
Moebius syndrome is a congenital cranial dysinnervation disorder (CCDD) that presents with nonprogressive cranial nerve (CN) VI and VII palsies resulting in facial weakness and inability to abduct the eye(s)....
9.
Wojcik M, Srivastava S, Agrawal P, Balci T, Callewaert B, Calvo P, et al.
Am J Med Genet A
. 2023 May;
191(7):1900-1910.
PMID: 37183572
Jansen-de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum and natural history remain to be...
10.
McDonald J, Kornish J, Stevenson D, Hanson-Kahn A, Balch H, James J, et al.
Genet Med
. 2023 May;
25(8):100865.
PMID: 37125633
Purpose: The Curaçao criteria are well-established diagnostic criteria for hereditary hemorrhagic telangiectasia (HHT), but they lack details regarding a predictive presentation of epistaxis and telangiectasias. This study collects and compares...