PubRank

M P Roth

Author PubWeight™ 48.76‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Familial empirical risks for inflammatory bowel disease: differences between Jews and non-Jews. Gut 1993 2.35
2 Epidemiology of congenital eye malformations in 131,760 consecutive births. Ophthalmic Paediatr Genet 1992 1.55
3 Associated malformations in cases with oral clefts. Cleft Palate Craniofac J 2000 1.47
4 Birth prevalence rates of skeletal dysplasias. Clin Genet 1989 1.43
5 Study of Down syndrome in 238,942 consecutive births. Ann Genet 1998 1.43
6 Longevity and carrying the C282Y mutation for haemochromatosis on the HFE gene: case control study of 492 French centenarians. BMJ 2003 1.38
7 Segregation of a 22 ring chromosome in three generations. Hum Genet 1983 1.36
8 Interstitial deletion of the long arm of chromosome 5 in a deformed boy: 46,XY,del(5)(q13q15). J Med Genet 1980 1.26
9 Heterogeneity in rates of recombination in the 6-Mb region telomeric to the human major histocompatibility complex. Genomics 1997 1.20
10 Acid reflux event detection using the Bravo wireless versus the Slimline catheter pH systems: why are the numbers so different? Gut 2005 1.19
11 Duodenal mRNA expression of iron related genes in response to iron loading and iron deficiency in four strains of mice. Gut 2002 1.19
12 Associated malformations in patients with anorectal anomalies. Eur J Med Genet 2007 1.12
13 Identification of a new locus for isolated familial keratoconus at 2p24. J Med Genet 2005 1.10
14 Congenital eye malformations in 212,479 consecutive births. Ann Genet 1997 1.08
15 Genetic marker associations with proliferative retinopathy in persons diagnosed with diabetes before 30 yr of age. Diabetes 1992 1.08
16 Epidemiology of Down syndrome in 118,265 consecutive births. Am J Med Genet Suppl 1990 1.02
17 Risk factors in congenital abdominal wall defects (omphalocele and gastroschisi): a study in a series of 265,858 consecutive births. Ann Genet 2001 1.00
18 Epidemiological and genetic study in 207 cases of oral clefts in Alsace, north-eastern France. J Med Genet 1991 1.00
19 Risk factors for gallstone formation during rapid loss of weight. Dig Dis Sci 1992 0.99
20 A Weaver-like syndrome with endocrinological abnormalities in a boy and his mother. Clin Genet 1985 0.97
21 Genetic and environmental factors in hypospadias. J Med Genet 1990 0.96
22 Risk factors in congenital heart disease. Eur J Epidemiol 1989 0.93
23 Male-to-male transmission of the hypertelorism-hypospadias (BBB) syndrome. Am J Med Genet 1985 0.92
24 Evaluation of prenatal diagnosis by a registry of congenital anomalies. Prenat Diagn 1992 0.91
25 Evaluation of prenatal diagnosis of congenital gastro-intestinal atresias. Eur J Epidemiol 1996 0.87
26 Prevalence of neural tube defects in northeastern France, 1979-1992 impact of prenatal diagnosis. Ann Genet 1995 0.85
27 Impact of prenatal diagnosis on livebirth prevalence of children with congenital anomalies. Ann Genet 2002 0.83
28 Paternal age and Down's syndrome diagnosed prenatally: no association in French data. Prenat Diagn 1983 0.83
29 Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. The European Haemochromatosis Consortium. Nat Genet 1999 0.83
30 Risk factors in congenital anal atresias. Ann Genet 1997 0.82
31 An epidemiologic study of environmental and genetic factors in congenital hydrocephalus. Eur J Epidemiol 1992 0.82
32 Risk factors in limb reduction defects. Paediatr Perinat Epidemiol 1992 0.81
33 Parental consanguinity as a cause for increased incidence of births defects in a study of 238,942 consecutive births. Ann Genet 1999 0.81
34 The 5' insulin gene polymorphism and the genetics of vascular complications in type 1 (insulin-dependent) diabetes mellitus. Diabetologia 1991 0.80
35 Evaluation of routine prenatal ultrasound examination in detecting fetal chromosomal abnormalities in a low risk population. Hum Genet 1993 0.80
36 Comparison of esophageal acid exposure at 1 cm and 6 cm above the squamocolumnar junction using the Bravo pH monitoring system. Dis Esophagus 2006 0.80
37 Summary of contributions to GAW15 Group 16: processing/normalization of expression traits. Genet Epidemiol 2007 0.80
38 Recent trends in the prevalence of Down syndrome in north-eastern France. Ann Genet 1994 0.79
39 Discordance for skeletal and cardiac defect in monozygotic twins. Acta Genet Med Gemellol (Roma) 1984 0.79
40 Evaluation of routine prenatal diagnosis by a registry of congenital anomalies. Prenat Diagn 1995 0.79
41 Reexamination of paternal age effect in Down's syndrome. Hum Genet 1983 0.79
42 Evidence for linkage disequilibrium between HLA-DRB1 gene and multiple sclerosis. The French Research Group on Genetic Susceptibility to MS. Science 1997 0.79
43 Acetylator phenotype and congenital malformations. Eur J Clin Pharmacol 1989 0.78
44 Study of 224 cases of oligohydramnios and congenital malformations in a series of 225,669 consecutive births. Community Genet 1998 0.78
45 [Etiologic and epidemiologic aspects of neural tube defects]. Arch Fr Pediatr 1988 0.77
46 Conservation of ancestral haplotypes telomeric of HLA-A. Eur J Immunogenet 1997 0.77
47 Hereditary hemochromatosis: a HpaI polymorphism within the HLA-H gene. Mol Cell Probes 1997 0.76
48 Study of 290 cases of polyhydramnios and congenital malformations in a series of 225,669 consecutive births. Community Genet 1999 0.76
49 Risk factors in internal urinary system malformations. Pediatr Nephrol 1990 0.75
50 Hypertrophic pyloric stenosis associated with X-linked ichthyosis in two brothers. Clin Exp Dermatol 1983 0.75
51 Trisomy 1q24----1q41 in two sibs with an insertion in an inverted chromosome 4. J Med Genet 1984 0.75
52 Does the Bravo pH capsule affect esophageal motor function? Dis Esophagus 2007 0.75
53 Polymorphic tri- and tetranucleotide repeats in exons 1 and 8 of the myelin oligodendrocyte glycoprotein (MOG) gene. Hum Genet 1995 0.75
54 [Schooling of children with trisomy 21. A 4-year experience]. Ann Pediatr (Paris) 1983 0.75
55 Prenatal detection of internal urinary system's anomalies. A registry-based study. Eur J Epidemiol 1995 0.75
56 Sister chromatid exchange and growth kinetics in chronic myeloid leukemia. Cancer Res 1982 0.75
57 ASSOCIATED NON DIAPHRAGMATIC ANOMALIES AMONG CASES WITH CONGENITAL DIAPHRAGMATIC HERNIA. Genet Couns 2015 0.75
58 Partial 4q duplication due to inherited der(13),t(4;13)(q26;q34)mat in a girl with a deficiency of factor X. Hum Genet 1980 0.75
59 Multipoint analysis by simplifying general expressions of likelihood. Prog Clin Biol Res 1989 0.75
60 No evidence for transmission disequilibrium between a new marker at the myelin basic protein locus and multiple sclerosis in French patients. Genes Immun 2000 0.75
61 [Articular contracture with dwarfism and normal intelligence: a new autosomal dominant familial syndrome]. J Genet Hum 1980 0.75
62 [Congenital malformations in a series of 66,068 consecutive births]. Arch Fr Pediatr 1987 0.75
63 Evaluation of prenatal diagnosis of limb reduction defects by a registry of congenital anomalies. Prenat Diagn 1994 0.75
64 [Immunologic study of 58 children with trisomy 21]. Ann Pediatr (Paris) 1982 0.75
65 [Correlations between pregnancy pathology, study of the placenta, antenatal echography and examination of the product of conception in a series of 175 congenital malformations]. J Genet Hum 1985 0.75
66 [Maternal oligo-elements and fetal malformations]. Rev Fr Gynecol Obstet 1990 0.75
67 [Familial trisomy 10q (author's transl)]. Arch Fr Pediatr 1981 0.75
68 Genetic markers of immunoglobulins and diabetes mellitus in the multiracial population of New Caledonia. The CALDIA Study Group. Diabetes Res Clin Pract 2000 0.75
69 Prenatal diagnosis of hypochondroplasia. Prenat Diagn 1986 0.75
70 A reexamination on parental age effect on the occurrence of new mutations for achondroplasia. Prog Clin Biol Res 1982 0.75
71 Usefulness of a registry of congenital malformations for genetic counseling and prenatal diagnosis. Clin Genet 1986 0.75
72 [An epidemiological study of oligohydramnios associated with congenital malformations]. J Gynecol Obstet Biol Reprod (Paris) 1990 0.75
73 [Branchio-oto-renal dysplasia. A hereditary dominant autosomal syndrome with variable expression]. Arch Fr Pediatr 1983 0.75
74 [Congenital malformations in a series of 131,760 consecutive births during 10 years]. Arch Fr Pediatr 1991 0.75
75 [Trisomy syndrome of the end section of the long arm of chromosome 4]. Ann Pediatr (Paris) 1985 0.75
76 [School attendance of children with trisomy 21. A 4-year experiment]. Sem Hop 1983 0.75
77 Familial pterygium syndrome. Clin Genet 1980 0.75
78 [Genetics of autoimmune diseases]. Rev Prat 1994 0.75
79 Prevalence of neural tube defects in northeastern France, 1979-1994. Impact of prenatal diagnosis. Ann Genet 1997 0.75