PubRank

Han G Brunner

Author PubWeight™ 253.42‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012 10.80
2 Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005 8.60
3 A de novo paradigm for mental retardation. Nat Genet 2010 8.57
4 Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004 6.90
5 Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet 2006 6.15
6 A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 2006 5.92
7 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet 2010 5.72
8 Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 2003 5.43
9 A text-mining analysis of the human phenome. Eur J Hum Genet 2006 4.98
10 Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet 2006 4.77
11 Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet 2008 4.44
12 Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 2008 4.04
13 De novo mutations in human genetic disease. Nat Rev Genet 2012 3.81
14 Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet 2012 3.73
15 Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet 2010 3.60
16 Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet 2007 3.54
17 Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet 2010 3.47
18 CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet 2010 3.25
19 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet 2007 3.22
20 High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet 2002 3.10
21 Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 2002 3.09
22 Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet 2007 3.02
23 Disease gene identification strategies for exome sequencing. Eur J Hum Genet 2012 2.89
24 Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet 2007 2.81
25 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002 2.81
26 Unlocking Mendelian disease using exome sequencing. Genome Biol 2011 2.62
27 Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet 2008 2.61
28 Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 2011 2.59
29 Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet 2012 2.44
30 A new web-based data mining tool for the identification of candidate genes for human genetic disorders. Eur J Hum Genet 2003 2.32
31 Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet 2006 2.31
32 TLR4 polymorphisms, infectious diseases, and evolutionary pressure during migration of modern humans. Proc Natl Acad Sci U S A 2007 2.28
33 Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. PLoS Genet 2010 2.14
34 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet 2011 2.09
35 Clinical significance of de novo and inherited copy-number variation. Hum Mutat 2013 2.08
36 A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat 2013 2.07
37 Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes. Nucleic Acids Res 2006 1.95
38 WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn 2010 1.91
39 The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data. Brain Imaging Behav 2014 1.90
40 Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet 2012 1.90
41 Identification of disease genes by whole genome CGH arrays. Hum Mol Genet 2005 1.85
42 Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet 2009 1.84
43 Phenome connections. Trends Genet 2008 1.84
44 Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet 2003 1.83
45 Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet 2002 1.80
46 Mutations in different components of FGF signaling in LADD syndrome. Nat Genet 2006 1.76
47 Accurate distinction of pathogenic from benign CNVs in mental retardation. PLoS Comput Biol 2010 1.75
48 Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat 2009 1.71
49 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet 2012 1.70
50 Splitting p63. Am J Hum Genet 2002 1.62
51 Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. Am J Med Genet A 2007 1.62
52 C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet 2011 1.58
53 Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet 2006 1.56
54 Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet 2007 1.51
55 Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. J Med Genet 2012 1.51
56 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. Am J Hum Genet 2012 1.51
57 Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet 2012 1.49
58 Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet 2012 1.40
59 The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet 2009 1.39
60 Pattern of p63 mutations and their phenotypes--update. Am J Med Genet A 2006 1.36
61 MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet 2005 1.36
62 Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat 2013 1.32
63 Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. Hum Mol Genet 2002 1.29
64 Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet 2012 1.28
65 Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet 2014 1.25
66 Genotype-phenotype correlations in MYCN-related Feingold syndrome. Hum Mutat 2008 1.24
67 Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet 2008 1.24
68 Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. Am J Hum Genet 2012 1.22
69 The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Am J Hum Genet 2006 1.22
70 Mutations in MED12 cause X-linked Ohdo syndrome. Am J Hum Genet 2013 1.20
71 Genetic variation in CACNA1C, a gene associated with bipolar disorder, influences brainstem rather than gray matter volume in healthy individuals. Biol Psychiatry 2010 1.19
72 De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. Am J Hum Genet 2012 1.18
73 Understanding variable expressivity in microdeletion syndromes. Nat Genet 2010 1.16
74 Conserved co-expression for candidate disease gene prioritization. BMC Bioinformatics 2008 1.15
75 Feingold syndrome: clinical review and genetic mapping. Am J Med Genet A 2003 1.15
76 The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum Mutat 2006 1.14
77 Association of the Alzheimer's gene SORL1 with hippocampal volume in young, healthy adults. Am J Psychiatry 2011 1.13
78 Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. Invest Ophthalmol Vis Sci 2006 1.12
79 Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. Am J Hum Genet 2011 1.12
80 Mutations in ANTXR1 cause GAPO syndrome. Am J Hum Genet 2013 1.11
81 Genome-wide association analysis of anti-TNF drug response in patients with rheumatoid arthritis. Ann Rheum Dis 2012 1.10
82 Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. J Med Genet 2013 1.08
83 Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). Hum Genet 2004 1.07
84 Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Hum Genet 2003 1.07
85 Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. Am J Med Genet A 2008 1.07
86 The biological coherence of human phenome databases. Am J Hum Genet 2009 1.07
87 PLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesis. Dev Dyn 2002 1.05
88 Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Hum Mutat 2007 1.03
89 Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Hum Mol Genet 2013 1.02
90 A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes. Hum Mol Genet 2008 1.02
91 Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). Am J Med Genet A 2011 1.02
92 Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). Am J Med Genet A 2012 1.02
93 Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet 2012 1.01
94 Expanding phenotype of XNP mutations: mild to moderate mental retardation. Am J Med Genet 2002 1.01
95 Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLoS Genet 2011 1.01
96 The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet 2011 1.01
97 Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Hum Mutat 2010 1.00
98 MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am J Med Genet A 2007 0.99
99 Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 2006 0.97
100 Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. Genome Res 2010 0.97
101 Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. Am J Hum Genet 2011 0.97
102 Heritability of head size in Dutch and Australian twin families at ages 0-50 years. Twin Res Hum Genet 2010 0.95
103 Homozygosity mapping in outbred families with mental retardation. Eur J Hum Genet 2011 0.95
104 Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings. Clin Dysmorphol 2007 0.94
105 GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. J Med Genet 2013 0.91
106 Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). Am J Med Genet A 2005 0.91
107 The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. Eur J Hum Genet 2002 0.91
108 More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling. Fam Cancer 2014 0.91
109 Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome. PLoS Genet 2013 0.89
110 Human intellectual disability genes form conserved functional modules in Drosophila. PLoS Genet 2013 0.89
111 Genetic testing for Lynch syndrome in the first year of colorectal cancer: a review of the psychological impact. Fam Cancer 2009 0.89
112 Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. J Hum Genet 2006 0.89
113 A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? Eur J Hum Genet 2006 0.87
114 CR1 genotype is associated with entorhinal cortex volume in young healthy adults. Neurobiol Aging 2011 0.87
115 Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. Eur J Hum Genet 2008 0.86
116 Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse. Genomics 2005 0.86
117 Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. Orphanet J Rare Dis 2013 0.86
118 Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. Am J Med Genet A 2012 0.84
119 Bioinformatics methods for identifying candidate disease genes. Hum Genomics 2006 0.84
120 Low frequency of MECP2 mutations in mentally retarded males. Eur J Hum Genet 2002 0.83
121 Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations. Genet Med 2012 0.83
122 Unfavorable pathological characteristics in familial colorectal cancer with low-level microsatellite instability. Mod Pathol 2006 0.83
123 Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. Eur J Hum Genet 2006 0.82
124 Variants in CUL4B are associated with cerebral malformations. Hum Mutat 2015 0.82
125 Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes. Eur J Hum Genet 2006 0.81
126 Female BRCA mutation carriers with a preference for prophylactic mastectomy are more likely to participate an educational-support group and to proceed with the preferred intervention within 2 years. Fam Cancer 2010 0.81
127 No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease. Eur J Hum Genet 2003 0.80
128 DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct. BMC Womens Health 2012 0.79
129 Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review. Birth Defects Res C Embryo Today 2014 0.78
130 Further delineation of the KBG syndrome caused by ANKRD11 aberrations. Eur J Hum Genet 2015 0.78
131 Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2. Eur J Hum Genet 2008 0.78
132 Parental subfertility, fertility treatment, and the risk of congenital anorectal malformations. Epidemiology 2015 0.78
133 Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome. Clin Dysmorphol 2007 0.77
134 Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis. Brain Res Dev Brain Res 2005 0.76
135 No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations. Birth Defects Res A Clin Mol Teratol 2014 0.76
136 Status quo of annotation of human disease variants. BMC Bioinformatics 2013 0.76
137 Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients. Pediatr Neurol 2004 0.76
138 Early presentation of cystic kidneys in a family with a homozygous INVS mutation. Am J Med Genet A 2014 0.76
139 The relationship between clinical severity of Noonan's syndrome and growth, growth hormone (GH) secretion and response to GH treatment. J Pediatr Endocrinol Metab 2002 0.76
140 The variability of genetic disease. N Engl J Med 2012 0.75
141 Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias. Eur J Pediatr 2014 0.75
142 Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome? Clin Dysmorphol 2010 0.75