Robert D Steiner
Overview
Explore the profile of Robert D Steiner including associated specialties, affiliations and a list of published articles.
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Articles
145
Citations
2733
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Recent Articles
1.
Rush E, Del Angel G, Dong J, Bates T, Steiner R, Cox A
Mol Genet Metab
. 2025 Feb;
144(3):109046.
PMID: 39983296
Hypophosphatasia (HPP) is a rare metabolic disease resulting from variants in ALPL, inherited in an either autosomal recessive or autosomal dominant manner. Sponsored clinical ALPL testing was offered in the...
2.
Hannah W, Drumm M, Nykamp K, Pramparo T, Steiner R, Schrodi S
Genet Med Open
. 2024 Dec;
2:101881.
PMID: 39669633
No abstract available.
3.
Sedillo J, Badduke C, Schrodi S, Scaria V, Onat O, Alfadhel M, et al.
Genet Med Open
. 2024 Dec;
2:100840.
PMID: 39669624
Purpose: Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is a rare, often fatal, metabolic disorder and monogenic form of steroid-resistant nephrotic syndrome. Other manifestations include primary adrenal insufficiency, ichthyosis, and neurological...
4.
Paloian N, Boyke-Lohmann L, Steiner R
Front Pediatr
. 2024 Aug;
12:1430921.
PMID: 39156019
Background: X-linked hypophosphatemic rickets (XLH) is a rare genetic disease characterized by inappropriately elevated circulating fibroblast growth factor 23 (FGF-23) and subsequent urinary phosphate wasting. The primary clinical manifestations of...
5.
Pak C, Gilmore M, Bulkley J, Chakraborty P, Dagan-Rosenfeld O, Foreman A, et al.
Genet Med
. 2024 May;
26(8):101164.
PMID: 38757444
Purpose: The ClinGen Actionability Working Group (AWG) developed an evidence-based framework to generate actionability reports and scores of gene-condition pairs in the context of secondary findings from genome sequencing. Here...
6.
Gidding S, Ballantyne C, Cuchel M, de Ferranti S, Hudgins L, Jamison A, et al.
Glob Heart
. 2024 May;
19(1):43.
PMID: 38708402
Homozygous familial hypercholesterolemia (HoFH) is an ultra-rare inherited condition that affects approximately one in 300,000 people. The disorder is characterized by extremely high, life-threatening levels of low-density lipoprotein (LDL) cholesterol...
7.
Edelblut J, Skaar J, Hilton J, Seibt M, Martin K, Hadker N, et al.
J Med Econ
. 2024 Mar;
27(1):506-517.
PMID: 38491962
Aims: Urea cycle disorders (UCDs) can cause ammonia accumulation and central nervous system toxicity. Nitrogen-binding medications can be efficacious, but certain attributes may negatively impact adherence. This study sought to...
8.
Gregory Feero W, Steiner R, Slavotinek A, Faial T, Bamshad M, Austin J, et al.
Genet Med
. 2024 Mar;
26(5):101118.
PMID: 38488074
No abstract available.
9.
Gregory Feero W, Steiner R, Slavotinek A, Faial T, Bamshad M, Austin J, et al.
Nat Genet
. 2024 Mar;
56(4):555-556.
PMID: 38480924
No abstract available.
10.
Gregory Feero W, Steiner R, Slavotinek A, Faial T, Bamshad M, Austin J, et al.
Am J Hum Genet
. 2024 Mar;
111(4):621-623.
PMID: 38479392
No abstract available.