Deborah Wenkert

Overview

Explore the profile of Deborah Wenkert including associated specialties, affiliations and a list of published articles.

Snapshot

Articles 38

Citations 990

Followers 0

Related Specialties

Endocrinology

Orthopedics

General Medicine

Top 10 Co-Authors

Michael P Whyte

Steven Mumm

William H McAlister

Fan Zhang

Gary S Gottesman

Margaret Huskey

Stephen P Coburn

Katherine L Madson

Karen L Ericson

Karen L Clements

Published In

J Bone Miner Res

Bone

Am J Med Genet A

J Clin Densitom

N Engl J Med

Affiliations

Soon will be listed here.

Recent Articles

11.

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation

Mumm S, Gottesman G, Wenkert D, Campeau P, Nenninger A, Huskey M, et al.

Bone . 2019 Sep; 130:115047. PMID: 31472299

Bruck syndrome (BRKS) is the rare disorder that features congenital joint contractures often with pterygia and subsequent fractures, also known as osteogenesis imperfecta (OI) type XI (OMIM # 610968). Its...

12.

Hypophosphatasia: Natural history study of 101 affected children investigated at one research center

Whyte M, Wenkert D, Zhang F

Bone . 2016 Aug; 93:125-138. PMID: 27576207

Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Resultant extracellular accumulation of inorganic pyrophosphate, a TNSALP substrate and potent inhibitor of...

13.

Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease

Gottesman G, Madson K, McAlister W, Nenninger A, Wenkert D, Mumm S, et al.

Am J Med Genet A . 2016 Jan; 170A(4):978-85. PMID: 26762549

We report auricular ossification (AO) affecting the elastic cartilage of the ear as a newly recognized feature of osteoprotegerin (OPG)-deficiency juvenile Paget disease (JPD). AO and auricular calcification refer interchangeably...

14.

Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9

Phatarakijnirund V, Mumm S, McAlister W, Novack D, Wenkert D, Clements K, et al.

Bone . 2016 Jan; 84:289-298. PMID: 26746779

Congenital insensitivity to pain (CIP) comprises the rare heritable disorders without peripheral neuropathy that feature inability to feel pain. Fracturing and joint destruction are common complications, but lack detailed studies...

15.

Herpes Zoster Reactivation in Patients With Rheumatoid Arthritis: Analysis of Disease Characteristics and Disease-Modifying Antirheumatic Drugs

Pappas D, Hooper M, Kremer J, Reed G, Shan Y, Wenkert D, et al.

Arthritis Care Res (Hoboken) . 2015 May; 67(12):1671-8. PMID: 26018115

Objective: To identify the rheumatoid arthritis (RA) characteristics associated with increased herpes zoster (HZ) risk in the Corrona registry RA patients, and to evaluate the risk in initiators of tumor...

16.

Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients

Whyte M, Zhang F, Wenkert D, McAlister W, Mack K, Benigno M, et al.

Bone . 2015 Mar; 75:229-39. PMID: 25731960

Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) within the gene TNSALP that encodes the "tissue-nonspecific" isoenzyme of alkaline phosphatase (TNSALP). In HPP, inorganic pyrophosphate, an inhibitor of mineralization and substrate...

17.

PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets

Mumm S, Huskey M, Cajic A, Wollberg V, Zhang F, Madson K, et al.

J Bone Miner Res . 2014 Jul; 30(1):137-43. PMID: 25042154

Heritable forms of hypophosphatemic rickets (HR) include X-linked dominant (XLH), autosomal recessive, and autosomal dominant HR (from deactivating mutations in PHEX, DMP1 or ENPP1, and activating mutations in FGF23, respectively)....

18.

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis

Mumm S, Huskey M, Duan S, Wenkert D, Madson K, Gottesman G, et al.

Am J Med Genet A . 2014 Jul; 164A(9):2287-93. PMID: 24989131

Multicentric carpotarsal osteolysis syndrome (MCTO), an autosomal dominant disorder that often presents sporadically, features carpal-tarsal lysis frequently followed by nephropathy and renal failure. In 2012, mutations in the single-exon gene...

19.

Malignancies in children and young adults on etanercept: summary of cases from clinical trials and post marketing reports

Hooper M, Wenkert D, Bitman B, Dias V, Bartley Y

Pediatr Rheumatol Online J . 2013 Nov; 11(1):35. PMID: 24225257

Background: Malignancy risk may be increased in chronic inflammatory conditions that are mediated by tumor necrosis factor (TNF), such as juvenile idiopathic arthritis (JIA), but the role of TNF in...

20.

Pregnancy-associated osteoporosis with a heterozygous deactivating LDL receptor-related protein 5 (LRP5) mutation and a homozygous methylenetetrahydrofolate reductase (MTHFR) polymorphism

Cook F, Mumm S, Whyte M, Wenkert D

J Bone Miner Res . 2013 Sep; 29(4):922-8. PMID: 24014470

Pregnancy-associated osteoporosis (PAO) is a rare, idiopathic disorder that usually presents with vertebral compression fractures (VCFs) within 6 months of a first pregnancy and delivery. Spontaneous improvement is typical. There...