PubRank

M Muenke

Author PubWeight™ 106.45‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 1996 5.70
2 Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 1996 3.50
3 Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet 1997 3.03
4 Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva. N Engl J Med 1996 2.94
5 Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet 1999 2.57
6 Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nat Genet 2000 2.53
7 Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet 1998 2.26
8 The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet 1999 2.00
9 Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes. Nat Genet 1993 1.92
10 Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet 2000 1.92
11 Genetics of population isolates. Clin Genet 2002 1.89
12 Familial dementia caused by polymerization of mutant neuroserpin. Nature 1999 1.88
13 Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 1996 1.82
14 A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. Mol Psychiatry 2010 1.61
15 Holoprosencephaly: a paradigm for the complex genetics of brain development. J Inherit Metab Dis 1998 1.56
16 Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet 2005 1.46
17 Molecular analysis of the 18q- syndrome--and correlation with phenotype. Am J Hum Genet 1993 1.40
18 Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. Lancet 1997 1.40
19 Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination. Hum Mol Genet 2001 1.38
20 SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. Am J Med Genet 2001 1.37
21 Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? Am J Med Genet 1996 1.35
22 Clinical and molecular analysis in Joubert syndrome. Am J Med Genet 1997 1.33
23 Genetic transmission of fibrodysplasia ossificans progressiva. Report of a family. J Bone Joint Surg Am 1993 1.31
24 Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet 2009 1.31
25 Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Hum Mol Genet 1997 1.25
26 Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly. Hum Genet 1997 1.25
27 Holoprosencephaly: from Homer to Hedgehog. Clin Genet 1998 1.18
28 Mutations in holoprosencephaly. Hum Mutat 2000 1.17
29 Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat Genet 1995 1.17
30 The topographic organization of repetitive DNA in the human nucleolus. Genomics 1993 1.17
31 Human developmental disorders and the Sonic hedgehog pathway. Mol Med Today 1998 1.15
32 Craniosynostosis syndromes: from genes to premature fusion of skull bones. Mol Genet Metab 1999 1.14
33 Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome. J Med Genet 2005 1.13
34 Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. Genetics 2001 1.12
35 Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. Hum Mol Genet 1997 1.11
36 Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype. J Med Genet 2005 1.11
37 Physical mapping of the holoprosencephaly critical region in 18p11.3. Am J Hum Genet 1995 1.09
38 Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet 2007 1.06
39 Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. Am J Hum Genet 1998 1.06
40 A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans. Mol Syndromol 2010 1.06
41 The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21. Genomics 1995 1.06
42 Molecular mechanisms of holoprosencephaly. Mol Genet Metab 1999 1.05
43 Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. Am J Med Genet 1996 1.03
44 Human enteric defensin genes: chromosomal map position and a model for possible evolutionary relationships. Genomics 1996 1.00
45 Midline and laterality defects: left and right meet in the middle. Bioessays 2001 1.00
46 In situ hybridization to cytogenetic bands of yeast artificial chromosomes covering 50% of human Xq24-Xq28 DNA. Am J Hum Genet 1991 1.00
47 VACTERL association with high prenatal lead exposure: similarities to animal models of lead teratogenicity. Pediatrics 1991 0.99
48 Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. Hum Genet 1998 0.99
49 A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22. Hum Mol Genet 1997 0.98
50 Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly. Arch Dis Child 2002 0.98
51 A gene for cleidocranial dysplasia maps to the short arm of chromosome 6. Am J Hum Genet 1995 0.98
52 Contribution of LPHN3 to the genetic susceptibility to ADHD in adulthood: a replication study. Genes Brain Behav 2010 0.97
53 The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly. Cytogenet Genome Res 2002 0.96
54 Fibrodysplasia ossificans progressiva in two half-sisters: evidence for maternal mosaicism. Am J Med Genet 1996 0.94
55 Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly. Hum Genet 2001 0.93
56 Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: association with holoprosencephaly. Am J Med Genet 1996 0.93
57 Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum Genet 1999 0.93
58 Pedigree disequilibrium test (PDT) replicates association and linkage between DRD4 and ADHD in multigenerational and extended pedigrees from a genetic isolate. Mol Psychiatry 2004 0.92
59 Genomic structure, sequence, and mapping of human FGF8 with no evidence for its role in craniosynostosis/limb defect syndromes. Am J Med Genet 1997 0.92
60 Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. Hum Genet 1999 0.92
61 Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31. Am J Hum Genet 2000 0.92
62 Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts. J Med Genet 2007 0.90
63 A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD. Mol Psychiatry 2011 0.89
64 Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. Am J Med Genet 1998 0.88
65 Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis. Genomics 1990 0.88
66 Mild expression of fibrodysplasia ossificans progressiva: a report of 3 cases. J Rheumatol 1995 0.87
67 Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. J Pediatr 1998 0.86
68 Attention-deficit/hyperactivity disorder (ADHD): feasibility of linkage analysis in a genetic isolate using extended and multigenerational pedigrees. Clin Genet 2002 0.85
69 Holoprosencephaly: molecular study of a California population. Am J Med Genet 2000 0.85
70 ARP3beta, the gene encoding a new human actin-related protein, is alternatively spliced and predominantly expressed in brain neuronal cells. Eur J Biochem 2000 0.84
71 Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21. Hum Mol Genet 1996 0.83
72 Structure of the human gene encoding the associated microfibrillar protein (MFAP1) and localization to chromosome 15q15-q21. Genomics 1994 0.83
73 Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome. Am J Med Genet 2001 0.82
74 The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly. Cytogenet Cell Genet 2000 0.82
75 Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes. Am J Med Genet 1996 0.82
76 A two-locus genetic interaction between LPHN3 and 11q predicts ADHD severity and long-term outcome. Transl Psychiatry 2011 0.81
77 TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype. Mol Syndromol 2011 0.80
78 The molecular genetics of holoprosencephaly: a model of brain development for the next century. Childs Nerv Syst 1999 0.79
79 Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21. Genomics 1993 0.79
80 Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report. Plast Reconstr Surg 2001 0.78
81 Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1). Hum Genet 1999 0.77
82 High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly. Mol Syndromol 2012 0.77
83 A region-specific microdissection library for human chromosome 2p23-->p21 and the analysis of an interstitial deletion of 2p21. Cytogenet Cell Genet 1995 0.76
84 Loss of chromosome 8p sequences in human breast carcinoma cell lines. Cancer Genet Cytogenet 1994 0.76
85 Submicroscopic familial chromosomal translocation between 7q and 12p mimicking an autosomal dominant holoprosencephaly syndrome. Clin Genet 2010 0.75
86 The search for genes that cause holoprosencephaly: possible approaches. Birth Defects Orig Artic Ser 1996 0.75
87 [Attention deficit hyperactivity behavioral phenotype dimensions of adults from Antioquian families using the Wender-Utah Scale -Spanish version]. Rev Neurol 2009 0.75
88 Imaging studies in a unique familial dysmyelinating disorder. AJNR Am J Neuroradiol 1998 0.75
89 Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4. Mol Genet Metab 1998 0.75
90 Lobar holoprosencephaly in an infant born to a mother with classic phenylketonuria. Am J Med Genet 2000 0.75
91 Semilobar holoprosencephaly in a 46,XY female fetus. Prenat Diagn 2001 0.75
92 High prenatal lead levels and congenital anomalies. Am J Med Genet 1991 0.75