PubRank

G Gillessen-Kaesbach

Author PubWeight™ 52.32‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet 1999 2.57
2 Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet 1992 2.41
3 Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet 2000 2.23
4 Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS). J Med Genet 2000 2.00
5 Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet 1998 1.87
6 Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion. Eur J Hum Genet 2000 1.85
7 Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet 2000 1.80
8 Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 1994 1.79
9 Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Am J Hum Genet 2000 1.61
10 Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis. Hum Genet 1992 1.49
11 Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Am J Hum Genet 2000 1.48
12 Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. Am J Med Genet 1996 1.43
13 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Clin Genet 2007 1.41
14 Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet 1999 1.40
15 Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. J Med Genet 1994 1.14
16 Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. Eur J Hum Genet 2001 1.09
17 Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Am J Med Genet 1997 1.07
18 A patient with interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and a CHARGE-like phenotype. Am J Med Genet 1997 1.06
19 Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature. Am J Med Genet 1995 1.00
20 Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. Eur J Hum Genet 2000 0.98
21 Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. Clin Genet 2011 0.98
22 Cardio-facio-cutaneous (CFC) syndrome--a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome. Clin Genet 1997 0.97
23 Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity. Clin Genet 1989 0.90
24 Ataxia with oculomotor apraxia type 2: novel mutations in six patients with juvenile age of onset and elevated serum alpha-fetoprotein. Neuropediatrics 2009 0.90
25 Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. J Med Genet 1996 0.88
26 Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences. Am J Med Genet 1996 0.87
27 The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients. Eur J Pediatr 1994 0.86
28 Partial hexasomy 15pter-->15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report. J Med Genet 2003 0.86
29 Spontaneous growth in German children and adolescents with genetically confirmed Prader-Willi syndrome. Acta Paediatr 2000 0.84
30 Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q: further evidence for genetic heterogeneity. Am J Hum Genet 1994 0.84
31 Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15. Eur J Hum Genet 2001 0.82
32 Screening of the SPTBN2 (SCA5) gene in German SCA patients. J Neurol 2007 0.82
33 Two novel germline KRAS mutations: expanding the molecular and clinical phenotype. Clin Genet 2011 0.81
34 Variability in the phenotypic expression of fryns syndrome: A report of two sibships. Am J Med Genet 2000 0.80
35 Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2). Am J Med Genet 2001 0.80
36 Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype. Am J Med Genet 1995 0.80
37 Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: specific entity or variant of a described condition? Am J Med Genet 2000 0.79
38 Investigation of recessive ataxia loci in patients with young age of onset. Neuropediatrics 2007 0.79
39 Adult patients with Prader-Willi syndrome: clinical characteristics, life circumstances and growth hormone secretion. Growth Horm IGF Res 2000 0.79
40 A female patient with partial duplication 22 (q13-->qter). Clin Dysmorphol 1998 0.78
41 Blepharo-cheilo-dontic (BCD) syndrome. Am J Med Genet 1996 0.78
42 Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: expansion of phenotypic spectrum. Eur J Med Genet 2011 0.78
43 A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome? Genet Couns 1995 0.77
44 Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. Clin Genet 2014 0.77
45 Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark? Am J Med Genet 1996 0.76
46 Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. Mol Syndromol 2011 0.75
47 Adiposity indices in German children and adolescents with genetically confirmed Prader-Willi syndrome (PWS). Int J Obes Relat Metab Disord 2001 0.75
48 Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. Hum Genet 2007 0.75
49 Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. Hum Genet 2007 0.75
50 Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. Hum Genet 2007 0.75
51 [Analysis of a case of balanced chromosome translocation and phenotypic abnormality by fluorescence in situ hybridization]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2001 0.75
52 Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. Hum Genet 2007 0.75
53 Multiple subcutaneous granular-cell tumours in a patient with Noonan syndrome. Clin Dysmorphol 2000 0.75
54 Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. Hum Genet 2007 0.75
55 Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, speech disorder, and facial anomalies: Mutchinick syndrome. Am J Med Genet 1997 0.75
56 Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. Hum Genet 2007 0.75
57 Trisomy 13 with bilateral hand oligodactyly. Am J Med Genet 2000 0.75
58 Hemihyperplasia and discordant bone age in a patient with trisomy 8 mosaicism. Am J Med Genet A 2008 0.75
59 Aplasia cutis congenita--etiological relationship to antiphospholipid syndrome? Clin Dysmorphol 1999 0.75
60 Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. Hum Genet 2007 0.75
61 [Glycogenosis type IV (Andersen disease). Clinical data, pathology, and genetics in a fatal perinatal case]. Pathologe 2010 0.75
62 Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. Hum Genet 2007 0.75
63 Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. Hum Genet 2007 0.75
64 Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism. Am J Med Genet 1996 0.75
65 [Prader-Labhart-Willi syndrome in infants]. Klin Padiatr 2002 0.75
66 Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. Hum Genet 2007 0.75
67 Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. Hum Genet 2007 0.75
68 Microcephaly, seizures, genital hypoplasia, and abnormalities of the hands and feet in a 4-year-old boy with possible Wiedemann syndrome. Clin Genet 1996 0.75