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Article

Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PloS one - 1 Jan 2012

Puffenberger Erik G, Jinks Robert N, Sougnez Carrie, Cibulskis Kristian, Willert Rebecca A, Achilly Nathan P, Cassidy Ryan P, Fiorentini Christopher J, Heiken Kory F, Lawrence Johnny J, Mahoney Molly H, Miller Christopher J, Nair Devika T, Politi Kristin A, Worcester Kimberly N, Setton Roni A, Dipiazza Rosa, Sherman Eric A, Eastman James T, Francklyn Christopher, Robey-Bond Susan, Rider Nicholas L, Gabriel Stacey, Morton D Holmes, Strauss Kevin A

Abstract excerpt

The Clinic for Special Children (CSC) has integrated biochemical and molecular methods into a rural pediatric practice serving Old Order Amish and Mennonite (Plain) children. Among the Plain people, we have used single nucleotide polymorphism (SNP) microarrays to genetically map recessive disorde...

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Source

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Identifiers

PMID: 22279524
DOI: 10.1371/journal.pone.0028936
PMCID: PMC3260153

Genes

BRAT1
CRADD
FLVCR1
SNIP1
TUBGCP6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-22279524-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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