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» Authors » Erik Puffenberger

Erik Puffenberger

Explore the profile of Erik Puffenberger including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 7
Citations 238
Followers 0
Related Specialties
Genetics
Neurology
Science
Top 10 Co-Authors
Heng Wang
Holmes Morton
Kevin A Strauss
Baozhong Xin
Ron A Deckelbaum
Naomi L Baker
Joseph Gleeson
Albert de la Chapelle
Pascal Joset
Leah Nye
Published In
Am J Med Genet A
Genet Med
Clin Immunol
Am J Hum Genet
Science
Affiliations
Soon will be listed here.
Recent Articles
1.
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability
Scala M, Mojarrad M, Riazuddin S, Brigatti K, Ammous Z, Cohen J, et al.
Brain . 2020 Apr; 143(4):e31. PMID: 32227164
No abstract available.
2.
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions
Tan T, Gonzaga-Jauregui C, Bhoj E, Strauss K, Brigatti K, Puffenberger E, et al.
Am J Hum Genet . 2017 Dec; 101(6):985-994. PMID: 29198724
Bone morphogenetic protein 2 (BMP2) in chromosomal region 20p12 belongs to a gene superfamily encoding TGF-β-signaling proteins involved in bone and cartilage biology. Monoallelic deletions of 20p12 are variably associated...
3.
Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing
Bhattacharjee A, Sokolsky T, Wyman S, Reese M, Puffenberger E, Strauss K, et al.
Genet Med . 2014 Sep; 17(5):337-47. PMID: 25255367
Purpose: Genetic testing is routinely used for second-tier confirmation of newborn sequencing results to rule out false positives and to confirm diagnoses in newborns undergoing inpatient and outpatient care. We...
4.
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I
He H, Liyanarachchi S, Akagi K, Nagy R, Li J, Dietrich R, et al.
Science . 2011 Apr; 332(6026):238-40. PMID: 21474760
Small nuclear RNAs (snRNAs) are essential factors in messenger RNA splicing. By means of homozygosity mapping and deep sequencing, we show that a gene encoding U4atac snRNA, a component of...
5.
Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia
Rider N, Morton D, Puffenberger E, Hendrickson C, Robinson D, Strauss K
Clin Immunol . 2009 Jan; 131(1):119-28. PMID: 19150606
Cartilage-hair hypoplasia is a short limbed skeletal dysplasia associated with impairments in host-defense. To better understand the clinical heterogeneity of this disorder, we studied 25 Amish patients with homozygous mutations...
6.
Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy
Xin B, Puffenberger E, Tumbush J, Bockoven J, Wang H
Am J Med Genet A . 2007 Oct; 143A(22):2662-7. PMID: 17937428
Hypertrophic cardiomyopathy is typically inherited in an autosomal dominant pattern and has a variable age of onset and prognosis. Mutations in the myosin-binding protein C (MYBPC3) gene are one of...
7.
Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements
Wang H, Nye L, Puffenberger E, Morton H
Am J Med Genet A . 2007 Jul; 143A(16):1938-40. PMID: 17630668
No abstract available.