PubRank

Tim M Strom

Author PubWeight™ 207.60‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Genomewide association analysis of coronary artery disease. N Engl J Med 2007 24.38
2 Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 2004 14.35
3 Transcriptome and genome sequencing uncovers functional variation in humans. Nature 2013 8.89
4 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012 8.42
5 Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature 2004 5.95
6 Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet 2006 4.77
7 Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med 2014 4.70
8 A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet 2011 4.52
9 DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet 2006 4.49
10 Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment. Nat Genet 2004 3.91
11 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet 2012 3.80
12 An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet 2004 3.42
13 Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet 2005 3.27
14 Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain 2012 2.87
15 Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. Nat Genet 2013 2.83
16 Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. J Biol Chem 2006 2.68
17 Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation 2013 2.66
18 Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. Circ Cardiovasc Genet 2011 2.45
19 Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet 2010 2.26
20 Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet 2005 2.21
21 Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet 2007 2.16
22 Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. Brain 2013 2.02
23 Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. Am J Hum Genet 2007 2.00
24 Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet 2010 1.93
25 Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet 2012 1.93
26 Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ Cardiovasc Genet 2008 1.93
27 Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. N Engl J Med 2014 1.89
28 Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am J Hum Genet 2008 1.84
29 FGF23 is processed by proprotein convertases but not by PHEX. Bone 2004 1.79
30 Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. J Inherit Metab Dis 2012 1.77
31 Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet 2012 1.77
32 Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet 2009 1.72
33 Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am J Hum Genet 2011 1.70
34 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet 2011 1.70
35 Development of a high density 600K SNP genotyping array for chicken. BMC Genomics 2013 1.68
36 Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Hum Mutat 2010 1.59
37 Cohen syndrome diagnosis using whole genome arrays. J Med Genet 2010 1.55
38 Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am J Hum Genet 2012 1.54
39 Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Invest Ophthalmol Vis Sci 2007 1.54
40 KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. Hypertension 2011 1.51
41 Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet 2013 1.51
42 SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet 2009 1.51
43 PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain 2013 1.51
44 Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery. Genome Biol 2009 1.51
45 Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. Hum Mol Genet 2012 1.48
46 Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am J Hum Genet 2010 1.42
47 Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet 2011 1.39
48 The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Eur J Hum Genet 2003 1.36
49 Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. Ann Neurol 2002 1.33
50 Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet 2013 1.30
51 CpG-methylation regulates a class of Epstein-Barr virus promoters. PLoS Pathog 2010 1.28
52 ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am J Hum Genet 2013 1.27
53 DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family. Mov Disord 2014 1.27
54 Common genetic variants associate with serum phosphorus concentration. J Am Soc Nephrol 2010 1.20
55 Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage. BMC Genomics 2013 1.19
56 Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet 2010 1.19
57 Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet 2013 1.18
58 High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population. Invest Ophthalmol Vis Sci 2011 1.18
59 Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. Am J Hum Genet 2009 1.16
60 Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet 2012 1.16
61 Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. Invest Ophthalmol Vis Sci 2010 1.15
62 A powerful tool for genome analysis in maize: development and evaluation of the high density 600 k SNP genotyping array. BMC Genomics 2014 1.12
63 New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice. Mamm Genome 2004 1.10
64 Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. J Inherit Metab Dis 2012 1.10
65 ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci U S A 2013 1.08
66 Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. Am J Hum Genet 2010 1.07
67 A high resolution genome-wide scan for significant selective sweeps: an application to pooled sequence data in laying chickens. PLoS One 2012 1.06
68 Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Am J Hum Genet 2012 1.06
69 Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Hum Mutat 2007 1.03
70 Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am J Hum Genet 2013 1.03
71 Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. Am J Hum Genet 2012 0.99
72 Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 2006 0.97
73 Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. J Assoc Res Otolaryngol 2011 0.96
74 A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy. Epilepsia 2008 0.96
75 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet 2014 0.96
76 VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Hum Mutat 2014 0.96
77 MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Hum Mutat 2013 0.96
78 Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization. Am J Med Genet A 2009 0.95
79 Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer. Eur J Hum Genet 2008 0.94
80 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. Hum Genet 2015 0.94
81 Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. Arch Ophthalmol 2007 0.92
82 DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. Am J Hum Genet 2012 0.92
83 A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J Med Genet 2012 0.90
84 Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. J Neurol 2014 0.89
85 MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities. Neurogenetics 2015 0.88
86 New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis. Mamm Genome 2012 0.88
87 Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. Am J Hum Genet 2013 0.86
88 Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. Mol Vis 2011 0.86
89 Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. Brain 2007 0.85
90 A gene locus responsible for the familial hair shaft abnormality pili annulati maps to chromosome 12q24.32-24.33. J Invest Dermatol 2004 0.84
91 Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. Acta Neuropathol 2014 0.84
92 Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype. Eur J Med Genet 2013 0.83
93 Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. Mol Vis 2010 0.81
94 A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease. Mov Disord 2007 0.80
95 Frequency and clinical correlates of somatic Ying Yang 1 mutations in sporadic insulinomas. J Clin Endocrinol Metab 2015 0.80
96 Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas. J Clin Invest 2016 0.79
97 An ENU mutagenesis-derived mouse model with a dominant Jak1 mutation resembling phenotypes of systemic autoimmune disease. Am J Pathol 2013 0.78
98 Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. Arch Ophthalmol 2011 0.78
99 Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene. Neuromuscul Disord 2012 0.78
100 RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. J Clin Invest 2015 0.77
101 Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. Am J Med Genet A 2014 0.77
102 Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet 2015 0.75
103 Early glibenclamide treatment in a clinical newborn with KCNJ11 gene mutation. Diabetes Care 2007 0.75