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121.
Ghezzi, D.* et al.: Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am. J. Hum. Genet. 90, 1079-1087 (2012)
122.
Giehl, K.A.* et al.: Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Am. J. Hum. Genet. 91, 754-759 (2012)
123.
Haack, T.B. et al.: Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, x-linked dominant form of NBIA. Am. J. Hum. Genet. 91, 1144-1149 (2012)
124.
Jeanne, M.* et al.: COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. Am. J. Hum. Genet. 90, 91-101 (2012)
125.
Mayr, J.A.* et al.: Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am. J. Hum. Genet. 90, 314-320 (2012)
126.
Saxena, R.* et al.: Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. Am. J. Hum. Genet. 90, 410-425 (2012)
127.
Schraders, M.* et al.: Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. Am. J. Hum. Genet. 91, 883-889 (2012)
128.
* et al.: A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am. J. Hum. Genet. 89, 168-175 (2011)
129.
Abou Jamra, R.* et al.: Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am. J. Hum. Genet. 88, 788-795 (2011)
130.
Bown, M.J.* et al.: Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1. Am. J. Hum. Genet. 89, 619-627 (2011)
131.
Cichon, S.* et al.: Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. Am. J. Hum. Genet. 88, 372-381 (2011)
132.
Guelly, C.* et al.: Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am. J. Hum. Genet. 88, 99-105 (2011)
133.
Hartig, M.B. et al.: Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am. J. Hum. Genet. 89, 543-550 (2011)
134.
Johnson, T.* et al.: Blood pressure loci identified with a gene-centric array. Am. J. Hum. Genet. 89, 688-700 (2011)
135.
Lanktree, M.B.* et al.: Meta-analysis of dense genecentric association studies reveals common and uncommon variants associated with height. Am. J. Hum. Genet. 88, 6-18 (2011)
136.
Mayr, J.A.* et al.: Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. Am. J. Hum. Genet. 89, 806-812 (2011)
137.
Senderek, J.* et al.: Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am. J. Hum. Genet. 88, 162-172 (2011)
138.
Teumer, A.* et al.: Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk. Am. J. Hum. Genet. 88, 664-673 (2011)
139.
Bandah-Rozenfeld, D.* et al.: Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am. J. Hum. Genet. 87, 199-208 (2010)
140.
Lorenz-Depiereux, B. ; Schnabel, D.* ; Tiosano, D.* ; Häusler, G.* & Strom, T.M.: Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am. J. Hum. Genet. 86, 267-272 (2010)
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