PubRank

I D Young

Author PubWeight™ 133.36‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 1994 7.30
2 Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet 1997 4.92
3 Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J Med Genet 2001 3.28
4 A clinical and genetic study of campomelic dysplasia. J Med Genet 1995 2.20
5 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
6 Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. Endocrinology 1998 1.83
7 Holt-Oram syndrome: a clinical genetic study. J Med Genet 1996 1.75
8 Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. Am J Hum Genet 1995 1.67
9 A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms. J Med Genet 1982 1.66
10 Coffin-Lowry syndrome: clinical and molecular features. J Med Genet 2002 1.60
11 Changing demography of trisomy 18. Arch Dis Child 1986 1.56
12 Consensus development of a histopathological classification system for chronic prostatic inflammation. BJU Int 2001 1.52
13 Craniofrontonasal dysplasia. J Med Genet 1987 1.52
14 Mild form of Hunter's syndrome: clinical delineation based on 31 cases. Arch Dis Child 1982 1.46
15 Chronic tubulo-interstitial nephropathy in children with cranioectodermal dysplasia. Pediatr Nephrol 1997 1.45
16 Modulation of glomerular structure and function in murine lupus nephritis by methylprednisolone and cyclophosphamide. J Lab Clin Med 1994 1.41
17 Recurrence risk in osteogenesis imperfecta congenita. Lancet 1980 1.38
18 Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta. J Med Genet 1987 1.38
19 Lethal malformations and perinatal mortality: a 10 year review with comparison of ethnic differences. Br Med J (Clin Res Ed) 1987 1.37
20 Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer 2003 1.33
21 Attitudes of Asian families to genetic counselling. J Med Genet 1985 1.26
22 A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus. J Med Genet 1997 1.25
23 High incidence of Meckel's syndrome in Gujarati Indians. J Med Genet 1985 1.24
24 Hereditary distal spinal muscular atrophy with vocal cord paralysis. J Neurol Neurosurg Psychiatry 1980 1.23
25 Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet 2000 1.22
26 A case of Fryns syndrome. J Med Genet 1986 1.20
27 Osteogenesis imperfecta type IIA: evidence for dominant inheritance. J Med Genet 1987 1.19
28 Behaviour disorder in monosomy 10qter. J Med Genet 1987 1.19
29 The natural history of the severe form of Hunter's syndrome: a study based on 52 cases. Dev Med Child Neurol 1983 1.19
30 Mannosidosis in two brothers: prolonged survival in the severe phenotype. Clin Genet 1982 1.16
31 The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs. J Med Genet 1986 1.15
32 An unusual form of familial acrocephalosyndactyly. J Med Genet 1982 1.15
33 Psychosocial problems in Hunter's syndrome. Child Care Health Dev 1981 1.14
34 A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment. J Med Genet 2000 1.11
35 Genetic analysis of malformations causing perinatal mortality. J Med Genet 1986 1.09
36 A clinical and genetic study of Hunter's syndrome. 1. Heterogeneity. J Med Genet 1982 1.07
37 Four cases of amelia of the upper limb associated with anal atresia--is this VACTERL with extreme limb involvement? Clin Dysmorphol 1998 1.07
38 Undergraduate teaching of genetics. Med Educ 1984 1.07
39 Long-term complications in Hunter's syndrome. Clin Genet 1979 1.06
40 Unknown syndrome: microcephaly, facial clefting, and preaxial polydactyly. J Med Genet 1988 1.05
41 Autosomal recessive or sex linked recessive: a counselling dilemma. J Med Genet 1986 1.04
42 Trisomy 18 in a 13 year old girl. J Med Genet 1986 1.02
43 Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. J Med Genet 1996 1.01
44 Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis. Am J Med Genet 1988 1.01
45 Desbuquois syndrome. Eur J Pediatr 1991 1.00
46 Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindreds). J Med Genet 1986 0.98
47 Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation. Clin Dysmorphol 1994 0.98
48 Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly. Arch Dis Child 2002 0.98
49 Amniotic bands in connective tissue disorders. Arch Dis Child 1985 0.97
50 Coffin-Lowry syndrome and schizophrenia: a family report. J Ment Defic Res 1987 0.96
51 Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findings. Int J Pediatr Otorhinolaryngol 1999 0.95
52 Hereditary multiple exostoses: confirmation of linkage to chromosomes 8 and 11. Am J Med Genet 1996 0.94
53 Neuraminidase deficiency: case report and review of the phenotype. J Med Genet 1987 0.93
54 Ocular findings in Angelman's (happy puppet) syndrome. Ophthalmic Paediatr Genet 1990 0.93
55 Etiological heterogeneity in sirenomelia. Pediatr Pathol 1986 0.93
56 Craniofrontonasal dysplasia--a distinct entity with lethality in the male? Clin Genet 1984 0.93
57 Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q. Nat Genet 1994 0.92
58 Increased expression of the 72-kd type IV collagenase in prostatic adenocarcinoma. Demonstration by immunohistochemistry and in situ hybridization. Am J Pathol 1994 0.92
59 Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals? J Med Genet 1990 0.92
60 Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy--a new syndrome? Clin Dysmorphol 1998 0.91
61 The role of SOX9 in autosomal sex reversal and campomelic dysplasia. Philos Trans R Soc Lond B Biol Sci 1995 0.91
62 Down syndrome and maternal age in South Glamorgan. J Med Genet 1980 0.90
63 Weill-Marchesani syndrome in mother and son. Clin Genet 1986 0.90
64 Acromelic frontonasal dysostosis. Am J Med Genet 1999 0.89
65 Carrier detection in Hunter syndrome. Am J Med Genet 1983 0.89
66 Familial cerebellar ataxia and diabetes insipidus. J Neurol Neurosurg Psychiatry 1988 0.89
67 Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations. Prenat Diagn 2003 0.89
68 Agenesis of the corpus callosum and macrocephaly in siblings. Clin Genet 1985 0.89
69 Induction of perlecan gene expression precedes amyloid formation during experimental murine AA amyloidogenesis. Lab Invest 1993 0.88
70 Co-deposition of basement membrane components during the induction of murine splenic AA amyloid. Lab Invest 1991 0.87
71 The Townes-Brocks syndrome. J Med Genet 1990 0.87
72 Parietal foramina in the Saethre-Chotzen syndrome. J Med Genet 1985 0.87
73 Family size limitation: a method for demonstrating recessive inheritance. J Med Genet 1988 0.87
74 Variations in genetic assessment and recurrence risks quoted for childhood deafness: a survey of clinical geneticists. J Med Genet 1999 0.86
75 Incidence of Hunter's syndrome. Hum Genet 1982 0.86
76 Population-based genetic study of childhood hearing impairment in the Trent Region of the United Kingdom. Audiology 2000 0.86
77 Cranioectodermal dysplasia in sibs. J Med Genet 1991 0.86
78 Epstein-Barr virus-associated acute interstitial nephritis: infection or immunologic phenomenon? Nephron 2002 0.86
79 Immunohistochemical analysis of type IV collagenase expression in prostatic hyperplasia and adenocarcinoma. Mod Pathol 1993 0.86
80 A new oculorenal syndrome: retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia. Br J Ophthalmol 1996 0.86
81 Congenital myopathy with oculo-facial and skeletal abnormalities. Dev Med Child Neurol 1981 0.84
82 Low segregation ratios in autosomal recessive disorders. J Med Genet 1993 0.84
83 The syndrome of mental handicap, cataracts, muscle wasting and skeletal abnormalities: report of a second case. J Ment Defic Res 1986 0.84
84 Distal symphalangism with involvement of the thumbs and great toes. Clin Genet 1987 0.84
85 Down's syndrome and fragile-X syndrome in a single patient. J Ment Defic Res 1990 0.84
86 Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis. J Med Genet 1986 0.84
87 Ethical dilemmas in clinical genetics. J Med Ethics 1984 0.83
88 Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis. J Med Genet 1993 0.82
89 Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis. J Med Genet 1988 0.82
90 Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies. J Inherit Metab Dis 2000 0.82
91 Congenital heart malformations: aetiology and associations. Semin Neonatol 2001 0.81
92 Severe pseudoachondroplasia with parental consanguinity. J Med Genet 1985 0.81
93 Microcephaly, microphthalmos, and retinal folds: report of a family. J Med Genet 1987 0.80
94 Trisomy/partial monosomy 13 mosaicism associated with relatively mild clinical malformation. Ann Genet 1992 0.80
95 Genetics and deafness: what do families want? J Med Genet 2000 0.80
96 Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended family. J Med Genet 1988 0.80
97 Experimental AA amyloidogenesis is associated with differential expression of extracellular matrix genes. Amyloid 1999 0.79
98 Sex-linked mental retardation, short stature, obesity and hypogonadism: report of a family. J Ment Defic Res 1982 0.79
99 Complex cardiac malformation in a case of trisomy 9. J Med Genet 1985 0.79
100 Connexin-26 mutations and inherited deafness. Lancet 1998 0.79
101 Sex linked valvular dysplasia. J Med Genet 1993 0.79
102 Haemangiopericytoma of the spermatic cord. Br J Urol 1998 0.78
103 A critical analysis of postulated pathogenetic mechanisms in amyloidogenesis. Crit Rev Clin Lab Sci 1992 0.78
104 Disorders of neuronal migration: sonographic features. Dev Med Child Neurol 1986 0.78
105 The Pallister-Hall syndrome. J Med Genet 1994 0.77
106 Mosaic partial trisomy 17 due to a ring chromosome identified by fluorescence in situ hybridisation. Am J Med Genet 1997 0.77
107 Spondylocostal dysostosis. J Med Genet 1984 0.77
108 Familial incidence of cryptorchidism. J Urol 1982 0.76
109 Pathogenesis of amyloidosis. Baillieres Clin Rheumatol 1994 0.76
110 A recombinant X chromosome in a short statured girl resulting from a maternal pericentric inversion. Hum Genet 1988 0.76
111 Diagnosis of unexplained injuries in children. BMJ 1991 0.75
112 A case of the G syndrome. J Med Genet 1983 0.75
113 Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs. J Med Genet 1982 0.75
114 Familial cerebellar ataxia and possible cosegregation with an inversion in chromosome 4. J Neurol Neurosurg Psychiatry 1990 0.75
115 Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship. J Med Genet 1980 0.75
116 Short rib syndrome without polydactyly. J Med Genet 1989 0.75
117 Phenotypical features of an unique Irish family with severe autosomal recessive Osteogenesis imperfecta. Clin Genet 1989 0.75
118 Severe developmental delay and multiple strawberry naevi: a new syndrome? J Med Genet 1993 0.75
119 Manifesting heterozygosity in Norrie's disease? Br J Ophthalmol 1993 0.75
120 Manifesting heterozygosity in sex-linked spastic paraplegia? J Neurol Neurosurg Psychiatry 1984 0.75
121 Origin of the X chromosomes in a patient with the 49,XXXXY syndrome. J Med Genet 1990 0.75
122 Functional palatal incompetence and teratogenesis. Arch Dis Child 1985 0.75
123 Malformations in different ethnic groups. Arch Dis Child 1987 0.75
124 A patient with median cleft face anomaly and bilateral Goldenhar anomaly. Am J Med Genet Suppl 1986 0.75
125 Long-term survival in the Wolf-Hirschhorn (4p-) syndrome. J Intellect Disabil Res 1995 0.75
126 Syringomas, natal teeth and oligodontia: a new ectodermal dysplasia? Clin Dysmorphol 1996 0.75
127 Identifying families at risk of inherited disease. Practitioner 1986 0.75
128 Prenatal diagnosis of a defect in medium-chain fatty acid oxidation. J Inherit Metab Dis 1994 0.75
129 Brief report: a 48XXXY/49XXXXY male with expressive speech defect. J Autism Dev Disord 1990 0.75
130 Recurrence risks for common complications of pregnancy--a review. Obstet Gynecol Surv 1987 0.75
131 Genetic counselling in perinatally lethal and severe progressively deforming osteogenesis imperfecta. Ann N Y Acad Sci 1988 0.75
132 Spondyloepimetaphyseal dysplasia and abnormal dentition in siblings: a new autosomal recessive syndrome. Clin Dysmorphol 1997 0.75
133 New syndrome with features overlapping the Baller-Gerold and Roberts syndromes. Clin Dysmorphol 1993 0.75
134 Annular pancreas in mother and son. Am J Med Genet 1987 0.75
135 Prenatal diagnosis of trisomy for the distal two-thirds of the long arm of chromosome 14 (q21----qter). Prenat Diagn 1990 0.75
136 Microphthalmos in a family. Ophthalmic Paediatr Genet 1985 0.75
137 Familial fibromatosis. Clin Genet 1981 0.75
138 Familial small bowel atresia and stenosis. J Pediatr Surg 1986 0.75
139 Dominant inheritance of microcephaly, short stature and congenital dislocation of the hips. Clin Dysmorphol 1993 0.75