Robert Nussbaum
Overview
Explore the profile of Robert Nussbaum including associated specialties, affiliations and a list of published articles.
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36
Citations
3162
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Recent Articles
1.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, et al.
Genome Med
. 2024 Jan;
16(1):6.
PMID: 38184654
No abstract available.
2.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Sheykhkarimli D, et al.
Am J Hum Genet
. 2023 Sep;
110(10):1769-1786.
PMID: 37729906
Defects in hydroxymethylbilane synthase (HMBS) can cause acute intermittent porphyria (AIP), an acute neurological disease. Although sequencing-based diagnosis can be definitive, ∼⅓ of clinical HMBS variants are missense variants, and...
3.
Savage S, LoTempio J, Smith E, Andrew E, Mas G, Kahn-Kirby A, et al.
J Am Med Inform Assoc
. 2023 Sep;
31(2):472-478.
PMID: 37665746
Objective: We implemented a chatbot consent tool to shift the time burden from study staff in support of a national genomics research study. Materials And Methods: We created an Institutional...
4.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, et al.
Genome Med
. 2023 Apr;
15(1):22.
PMID: 37020259
Background: We previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN,...
5.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Gebbia M, et al.
bioRxiv
. 2023 Feb;
PMID: 36798224
Defects in hydroxymethylbilane synthase (HMBS) can cause Acute Intermittent Porphyria (AIP), an acute neurological disease. Although sequencing-based diagnosis can be definitive, ~⅓ of clinical HMBS variants are missense variants, and...
6.
Matuozzo D, Talouarn E, Marchal A, Manry J, Seeleuthner Y, Zhang Y, et al.
medRxiv
. 2022 Nov;
PMID: 36324795
Background: We previously reported inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity in 1-5% of unvaccinated patients with life-threatening COVID-19, and auto-antibodies against type I IFN in...
7.
Manry J, Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, et al.
Res Sq
. 2022 Jan;
PMID: 35043109
SARS-CoV-2 infection fatality rate (IFR) doubles with every five years of age from childhood onward. Circulating autoantibodies neutralizing IFN-α, IFN-ω, and/or IFN-β are found in ~20% of deceased patients across...
8.
Moya-Mendez M, Ogbonna C, Ezekian J, Rosamilia M, Prange L, de la Uz C, et al.
J Am Heart Assoc
. 2021 Aug;
10(17):e019887.
PMID: 34459253
Background Pathogenic variation in the -encoded sodium-potassium ATPase, ATP1A3, is responsible for alternating hemiplegia of childhood (AHC). Although these patients experience a high rate of sudden unexpected death in epilepsy,...
9.
Asano T, Boisson B, Onodi F, Matuozzo D, Moncada-Velez M, Maglorius Renkilaraj M, et al.
Sci Immunol
. 2021 Aug;
6(62).
PMID: 34413140
Autosomal inborn errors of type I IFN immunity and autoantibodies against these cytokines underlie at least 10% of critical COVID-19 pneumonia cases. We report very rare, biochemically deleterious X-linked variants...
10.
Weile J, Kishore N, Sun S, Maaieh R, Verby M, Li R, et al.
Am J Hum Genet
. 2021 Jul;
108(7):1283-1300.
PMID: 34214447
Most rare clinical missense variants cannot currently be classified as pathogenic or benign. Deficiency in human 5,10-methylenetetrahydrofolate reductase (MTHFR), the most common inherited disorder of folate metabolism, is caused primarily...