PubRank

J A Crolla

Author PubWeight™ 55.45‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet 2009 3.87
2 Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study. J Pediatr 1996 2.50
3 A cytogenetic study of human spontaneous abortions using banding techniques. Hum Genet 1976 2.25
4 The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet 2005 1.94
5 A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome. Ann Hum Genet 1990 1.71
6 An imprinted gene(s) for diabetes? Nat Genet 1995 1.65
7 Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays. J Med Genet 2003 1.61
8 Three patients with ring (X) chromosomes and a severe phenotype. J Med Genet 1993 1.52
9 SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol 2007 1.44
10 Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere. Am J Hum Genet 2000 1.42
11 Chromosome constitution of 500 infants dying during the perinatal period. With an appendix concerning other genetic disorders among these infants. Humangenetik 1974 1.35
12 Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum Genet 1997 1.25
13 An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations. J Med Genet 2000 1.24
14 A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome. Am J Med Genet 1986 1.22
15 Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1. Cytogenet Genome Res 2009 1.09
16 Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity. Am J Hum Genet 2003 1.08
17 A test of the production line hypothesis of mammalian oogenesis. Hum Genet 1991 1.06
18 Complex chromosomal rearrangements. Clin Genet 1981 1.05
19 Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay. Am J Med Genet A 2010 0.98
20 Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay. J Med Genet 1998 0.96
21 Prenatal mortality of trisomy 21 (Down's syndrome). Lancet 1974 0.95
22 A familial reciprocal translocation between three chromosomes. Humangenetik 1974 0.92
23 A familial Xp+ chromosome, dup (Xq26.3-->qter). J Med Genet 1995 0.90
24 Prevention of spinal neural tube defects in the mouse embryo by growth retardation during neurulation. Development 1988 0.90
25 X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp. J Med Genet 1996 0.89
26 A three chromosome translocation involving two homologous chromosomes in a trisomic abortus. Clin Genet 1976 0.89
27 Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation. Eur J Med Genet 2012 0.88
28 A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype. J Med Genet 2003 0.86
29 Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. J Med Genet 1995 0.86
30 Neocentromere at 13q32 in one of two stable markers derived from a 13q21 break. Am J Med Genet 1999 0.85
31 Male breast cancer, age and sex chromosome aneuploidy. Br J Cancer 2013 0.85
32 Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review. Clin Genet 1994 0.84
33 Intrachromosomal triplication of distal 7p. J Med Genet 1998 0.83
34 An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes. J Med Genet 1991 0.82
35 Meiotic crossing over exchange in the female mouse visualised by BUdR substitution. Nature 1979 0.82
36 A search for uniparental disomy in carriers of supernumerary marker chromosomes. Eur J Hum Genet 1995 0.81
37 Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region. Hum Genet 1999 0.81
38 Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter. J Med Genet 1997 0.81
39 FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation. Am J Med Genet 2001 0.80
40 A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome. J Med Genet 1999 0.80
41 Meiosis in trisomic female mice with Robertsonian translocations. I. Prophase pairing. Cytogenet Cell Genet 1989 0.79
42 Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities. Cytogenet Genome Res 2006 0.79
43 Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions. Hum Genet 1995 0.79
44 Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins. Am J Med Genet A 2005 0.79
45 Rapid in situ harvesting and cytogenetic analysis of perinatal tissue samples. Prenat Diagn 1996 0.78
46 A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9. Prenat Diagn 1996 0.78
47 Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay. Neurology 2010 0.76
48 Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23). J Med Genet 1996 0.75
49 A balanced whole arm reciprocal translocation resulting in three different adverse pregnancy outcomes. J Med Genet 1993 0.75
50 Cytogenetics 40 years on. J Clin Pathol 1996 0.75
51 48,XYY,+13 karyotype in a liveborn infant. Clin Genet 1980 0.75
52 Telomeric translocations are uncommon. Genet Couns 1995 0.75
53 Further case of trisomy 18 mosaicism with a mild phenotype. Am J Med Genet 1995 0.75
54 Mosaic tetrasomy 8p: molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels. Am J Med Genet 1993 0.75
55 Functional Xp disomy and hypomelanosis of Ito. Arch Med Res 2000 0.75
56 Molecular approaches to the detection of deletions and uniparental disomy in prader-willi and angelman syndromes. Methods Mol Med 1996 0.75
57 A highly complex rea(2;3;11) and aniridia by position effect. Cytogenet Genome Res 2006 0.75
58 A de novo (1;2;3;15;18) chromosome rearrangement with six nonreciprocal translocations. Genet Couns 2007 0.75
59 Molecular cytogenetic characterization of three familial cases of satellited Y chromosomes. Hum Genet 1993 0.75
60 Is the sex ratio at birth affected by immune selection? Exp Clin Immunogenet 1985 0.75
61 Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis. Singapore Med J 2008 0.75
62 Detection of minimal residual disease in childhood acute lymphoblastic leukaemia using fluorescence in-situ hybridization. Br J Haematol 1995 0.75
63 Origin of the mar3 in the myeloid cell line HL-60 determined by fluorescence in situ hybridization. Cancer Genet Cytogenet 1998 0.75