PubRank

A Milunsky

Author PubWeight™ 130.78‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Teratogenicity of high vitamin A intake. N Engl J Med 1995 5.53
2 Prenatal genetic diagnosis. I. N Engl J Med 1970 3.67
3 Maternal serum AFP secreening. N Engl J Med 1978 3.17
4 Threatened survival of academic-based genetic laboratory services. Am J Hum Genet 1992 2.65
5 An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 1992 2.63
6 Prenatal genetic diagnosis (second of three parts). N Engl J Med 1970 2.29
7 Prenatal diagnosis of neural tube defects. III. A reevaluation of the alpha-fetoprotein assay. Obstet Gynecol 1977 2.24
8 Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA 1992 2.11
9 Methotrexate-induced congenital malformations. J Pediatr 1968 2.00
10 Results and benefits of a maternal serum alpha-fetoprotein screening program. JAMA 1984 1.82
11 Duty to re-contact. Genet Med 2001 1.80
12 Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet 1993 1.64
13 Agenesis or hypoplasia of major salivary and lacrimal glands. Am J Med Genet 1990 1.57
14 Failure of amniotic-fluid cell growth with toxic tubes. N Engl J Med 1979 1.52
15 A prospective study of the risk of congenital defects associated with maternal obesity and diabetes mellitus. Epidemiology 2000 1.29
16 Cerebral gigantism in childhood. A report of two cases and a review of the literature. Pediatrics 1967 1.25
17 Editorial: Risk of amniocentesis for prenatal diagnosis. N Engl J Med 1975 1.22
18 Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. J Pediatr 1976 1.19
19 The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet 1977 1.17
20 Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Am J Med Genet 1995 1.16
21 Prenatal diagnosis of neural tube defects. I. Problems and pitfalls: analysis of 2495 cases using the alpha-fetoprotein assay. Obstet Gynecol 1976 1.16
22 A new mutation causing familial amyloidotic polyneuropathy. Biochem Biophys Res Commun 1989 1.11
23 Prenatal diagnosis of genetic disorders. An analysis of experience with 600 cases. JAMA 1974 1.10
24 Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. Am J Med Genet 1993 1.09
25 The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects. J Pediatr 1974 1.08
26 Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection. Prenat Diagn 1990 1.07
27 High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients. Biochem Biophys Res Commun 1978 1.05
28 Diabetes mellitus in Down's Syndrome. Arch Environ Health 1968 1.04
29 Prenatal diagnosis of Friedreich ataxia. Am J Med Genet 1989 1.03
30 Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet 1998 1.02
31 Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). J Med Genet 1996 1.02
32 A microassay for argininosuccinase in cultured cells. Am J Hum Genet 1972 1.02
33 Familial paragangliomas: linkage to chromosome 11q23 and clinical implications. Am J Med Genet 1997 1.02
34 First-trimester drug use and congenital disorders. Obstet Gynecol 1985 1.00
35 Amniocentesis for prenatal genetic studies. Obstet Gynecol 1972 0.98
36 Mutations in PAX3 associated with Waardenburg syndrome type I. Hum Mutat 1994 0.98
37 Decreased levels of amniotic fluid alpha-fetoprotein associated with Down syndrome. Am J Obstet Gynecol 1985 0.97
38 Prenatal diagnosis of open neural tube defects using the amniotic fluid acetylcholinesterase assay. Obstet Gynecol 1982 0.96
39 The Cri du Chat syndrome. J Ment Defic Res 1966 0.95
40 Mapping the X-linked lymphoproliferative syndrome. Proc Natl Acad Sci U S A 1987 0.95
41 Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. J Pediatr 1976 0.94
42 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet 2001 0.94
43 Early-onset diabetes mellitus in the general and Down's syndrome populations. Genetics, aetiology, and pathogenesis. Lancet 1969 0.94
44 The prenatal diagnosis of inborn errors of metabolism. Annu Rev Med 1972 0.92
45 Deregulation of screening for alpha-fetoprotein in pregnancy. N Engl J Med 1984 0.92
46 Prenatal diagnosis of neural tube defects. II. Analysis of false positive and false negative alpha-fetoprotein results. Obstet Gynecol 1976 0.92
47 Hazards of amniocentesis. Lancet 1979 0.92
48 The value of MLPA in Waardenburg syndrome. Genet Test 2007 0.91
49 Current concepts in genetics. Prenatal diagnosis of genetic disorders. N Engl J Med 1976 0.91
50 Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy. Hum Genet 1990 0.91
51 Diagnostic limitations of metachromasia. N Engl J Med 1969 0.90
52 Lysosomal enzyme variations in cultured normal skin fibroblasts. Life Sci II 1972 0.90
53 Emerging phenotype of duplication (7p): a report of three cases and review of the literature. Am J Med Genet 1989 0.89
54 Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses. Clin Genet 2005 0.88
55 Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene. Hum Reprod 1995 0.88
56 Letter: Elevated amniotic-fluid alpha-fetoprotein and duodenal atresia. Lancet 1975 0.88
57 Localization of the genes for histatins to human chromosome 4q13 and tissue distribution of the mRNAs. Am J Hum Genet 1989 0.88
58 Secretion by a hybridoma of antibodies against human alpha-fetoprotein. N Engl J Med 1980 0.88
59 Genetics, law and obstetric practice. Br J Obstet Gynaecol 1983 0.86
60 Schizophrenia susceptibility gene locus at Xp22.3. Clin Genet 1999 0.86
61 Interstitial deletion involving most of Yq. Am J Med Genet 1990 0.85
62 The Hunter syndrome in a 46 XX girl. N Engl J Med 1973 0.85
63 Abnormalities of chromosome 22 in meningiomas and confirmation of the origin of a dicentric 22 by in situ hybridization. Cancer Genet Cytogenet 1992 0.84
64 Tetraploidy in amniotic-fluid cells. Lancet 1970 0.84
65 The shorter zinc finger protein ZNF230 gene message is transcribed in fertile male testes and may be related to human spermatogenesis. Biochem J 2001 0.84
66 Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37. Hum Genet 1989 0.84
67 In situ hybridization applied to Waardenburg syndrome. Cytogenet Cell Genet 1993 0.83
68 Glucose intolerance in the parents of children with Down's syndrome. Am J Ment Defic 1970 0.83
69 Prenatal diagnosis of neural tube defects. VIII. The importance of serum alpha-fetoprotein screening in diabetic pregnant women. Am J Obstet Gynecol 1982 0.83
70 Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. J Med Genet 1995 0.83
71 Prenatal detection of neural tube defects: false positive and negative results. Pediatrics 1977 0.83
72 Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens. Chest 1996 0.82
73 Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq. Hum Genet 1989 0.82
74 Cystic fibrosis and Down's syndrome. Pediatrics 1968 0.82
75 Isolation, characterization, and mapping of a novel human KRAB zinc finger protein encoding gene ZNF463. Biochim Biophys Acta 2001 0.82
76 Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q. Clin Genet 1995 0.81
77 A 22-bp deletion in the coding region of the cystic fibrosis gene. Genomics 1992 0.81
78 Abnormal copper metabolism in Menke's steely-hair syndrome. Pediatr Res 1979 0.81
79 Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance. Clin Genet 2011 0.81
80 Chromosome deletion of Xq25 in an individual with X-linked lymphoproliferative disease. Am J Med Genet 1989 0.81
81 Prenatal detection of intestinal obstruction: deficient amniotic fluid disaccharidases in affected fetuses. Clin Genet 1980 0.81
82 Prenatal genetic diagnosis. 3. N Engl J Med 1970 0.81
83 Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome. Clin Genet 2007 0.81
84 Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant. Am J Med Genet 1996 0.81
85 First-trimester maternal serum alpha-fetoprotein and human chorionic gonadotropin screening for chromosome defects. Prenat Diagn 1990 0.81
86 High-resolution mapping of probes near the X-linked lymphoproliferative disease (XLP) locus. Genomics 1993 0.81
87 Letter: Prenatal diagnois of chromosomal mosaicism. J Pediatr 1976 0.81
88 Prenatal diagnosis of neural tube defects. IV. Maternal serum alpha-fetoprotein screening. Obstet Gynecol 1980 0.80
89 Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere. J Med Genet 2002 0.80
90 Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent. Clin Genet 1992 0.80
91 Ovulation induction and neural tube defects. Teratology 1990 0.80
92 Insulin, glucose, growth hormone, and free fatty acids. Determinations in patients with cystic fibrosis. Am J Dis Child 1971 0.80
93 Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects. Clin Genet 2004 0.79
94 Cytogenetic studies of eight squamous cell carcinomas of the head and neck. Deletion of 7q, a possible primary chromosomal event. Cancer Genet Cytogenet 1992 0.79
95 Prenatal diagnosis of genetic abnormalities. Clin Perinatol 1974 0.79
96 Prenatal detection of neural tube defects. VI. Experience with 20,000 pregnancies. JAMA 1980 0.79
97 Gm2-gangliosidosis: studies in cultured fibroblasts. Birth Defects Orig Artic Ser 1973 0.79
98 Report of a variant t(1;15;17)(p36;q22;q21.1) in a patient with acute promyelocytic leukemia. Cancer Genet Cytogenet 1991 0.78
99 Partial duplication of Xp: a case report and review of previously reported cases. Am J Med Genet 1991 0.78
100 A new transthyretin mutation associated with amyloidotic vitreous opacities. Asparagine for isoleucine at position 84. Ophthalmology 1992 0.78
101 Nicotine and cotinine in the amniotic fluid of smokers in the second trimester of pregnancy. Am J Obstet Gynecol 1974 0.78
102 Carbohydrate tolerance, growth hormone and insulin levels in mongolism. Dev Med Child Neurol 1968 0.78
103 Chromosomal translocations in secondary acute myeloid leukemia. N Engl J Med 1996 0.78
104 Otopathology in a case of type I Waardenburg's syndrome. Ann Otol Rhinol Laryngol 2001 0.78
105 Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy. Am J Hum Genet 1991 0.78
106 Abnormal maternal serum levels of human chorionic gonadotropin free subunits in trisomy 18. Am J Med Genet 1990 0.77
107 Mutation analysis in Rett syndrome. Genet Test 2001 0.76
108 Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis. Clin Genet 1994 0.76
109 Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region. Clin Genet 2001 0.76
110 Insulin and glucose response to glucagon in Down's syndrome. Lancet 1967 0.76
111 Lethal congenital anomalies. JAMA 1983 0.76
112 Vitamin A and retinol-binding protein in amniotic fluid. Am J Clin Nutr 1983 0.76
113 An important clinical approach in detecting the fragile X syndrome. Am J Public Health 1985 0.75
114 Plasma, erythrocyte and leucocyte zinc levels in Down's syndrome. J Ment Defic Res 1970 0.75
115 Sounding board: Antenatal diagnosis, alpha fetoprotein and the FDA. N Engl J Med 1976 0.75
116 "Prolife" perinatologist. N Engl J Med 1992 0.75
117 Amniotic-fluid total cholinesterase and neural-tube defects. Lancet 1979 0.75
118 Reply to nightingale and meister. Am J Hum Genet 1988 0.75
119 A novel mutation in the MITF gene causes Waardenburg syndrome type 2. Genet Anal 1996 0.75
120 Folic acid and neural tube defect avoidance. Prenat Diagn 1992 0.75
121 Cytogenetic studies of an adrenal cortical carcinoma. Cancer Genet Cytogenet 1992 0.75
122 Alpha-fetoprotein and the prenatal detection of neural tube defects. Am J Public Health 1979 0.75
123 L2, a DNA fragment from Xq24-q27, detects an EcoR1 RFLP (HGM9 no. DXS12). Nucleic Acids Res 1989 0.75
124 High performance liquid chromatography for the detection of homozygotes and heterozygotes of Niemann-Pick disease. Pediatr Res 1978 0.75
125 Localization of the gene for human heart fatty acid binding protein to chromosome 1p32-1p33. Hum Genet 1993 0.75
126 First prenatal diagnosis of X-linked lymphoproliferative disease. Am J Med Genet 1992 0.75
127 Annular pancreas in Down's syndrome. Lancet 1968 0.75
128 Prenatal diagnosis of the congenital nephrotic syndrome. Pediatrics 1977 0.75
129 Renal tubular dysgenesis with microcephaly. Pediatr Nephrol 1997 0.75
130 Cerebral gigantism in childhood. Pediatrics 1968 0.75
131 Maternal serum alpha-fetoprotein screening and choriocarcinoma. Am J Obstet Gynecol 1986 0.75
132 Routine amniotic fluid alpha-fetoprotein assays. Am J Med Genet 1983 0.75
133 Cholesterol metabolism in cultured fibroblasts in adrenoleukodystrophy. Pediatr Res 1976 0.75
134 Alpha-fetoprotein assay in all amniocentesis samples. Lancet 1976 0.75
135 Sclerema neonatorum: a clinical study of 79 cases. S Afr Med J 1966 0.75
136 Presymptomatic and prenatal diagnosis of myotonic muscular dystrophy with linked DNA probes. Am J Med Sci 1991 0.75
137 Amniotic fluid fibrinogen degradation products in the prenatal diagnosis of neural tube defects. Am J Obstet Gynecol 1977 0.75
138 Fetal bladder-neck obstruction and elevated amniotic-fluid alpha fetoprotein. N Engl J Med 1977 0.75
139 Brief clinical report: duplication 18q syndrome. Am J Med Genet 1983 0.75
140 A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90. Clin Genet 1991 0.75
141 Policy analysis for prenatal genetic diagnosis. Public Policy 1979 0.75
142 Evaluation of satellited Y chromosome (Yqs) detected during prenatal diagnosis. Acta Obstet Gynecol Scand 1997 0.75
143 The value of deletion analysis for carrier detection in Duchenne muscular dystrophy (DMD). Clin Genet 1991 0.75
144 The "new" genetics: emerging medicolegal issues in the prenatal issues in the prenatal diagnosis of hereditary disorders. Am J Law Med 1975 0.75
145 Microenzymatic assays for lysosomal enzymes in primary amniotic fluid cell cultures. Clin Chim Acta 1980 0.75
146 Cautions about maternal serum alpha-fetoprotein screening. N Engl J Med 1985 0.75
147 Use of microtechniques for the detection of lysosomal enzyme disorders: Tay-Sachs disease, Gm1-gangliosidosis and Fabry disease. Clin Genet 1978 0.75
148 Case report: cystic fibrosis and embryonal carcinoma of the testis. Am J Med Sci 1996 0.75
149 Evidence for genetic heterogeneity of the Carney complex (familial atrial myxoma syndromes). Cancer Genet Cytogenet 1998 0.75
150 Editorial: Hereditary eye disease and prenatal diagnosis. Arch Ophthalmol 1974 0.75
151 Prenatal diagnosis: detailed chromosomal analysis in 500 cases. Clin Genet 1974 0.75
152 Letter: Prenatal diagnosis of Tay-Sachs disease. Lancet 1973 0.75
153 Elevated alpha-fetoprotein and acetylcholinesterase associated with hydrocele. Am J Med Genet 1984 0.75
154 Deletion of 15q12 in Angelman syndrome: report of 3 new cases. Clin Genet 1992 0.75
155 Urea and electrolyte levels in the serum in sclerema neonatorum. J Pediatr 1965 0.75
156 Down's syndrome and cystic fibrosis. Pediatrics 1969 0.75
157 Fetal malformations and environmental influences. A perspective. Am J Forensic Med Pathol 1982 0.75
158 Disaccharidase and lysosomal enzyme activities in amniotic fluid, intestinal mucosa and meconium. Correlation between morphology and disaccharidase activities in human fetal small intestine. Biol Neonate 1977 0.75
159 Abortion legislation. Implications for medicine. JAMA 1982 0.75
160 Prenatal genetic diagnosis. Am Fam Physician 1977 0.75
161 Polyploidy in prenatal genetic diagnosis. J Pediatr 1971 0.75
162 Cell culture studies in progeria. I. Establishment and partial characterization of a lymphoblastoid cell line. Mech Ageing Dev 1979 0.75
163 Prenatal diagnosis for Schmid metaphyseal chondrodysplasia in twins. Fetal Diagn Ther 1998 0.75
164 Genetic counseling in perinatal medicine. Obstet Gynecol Clin North Am 1997 0.75
165 Prenatal detection of neural tube defects. Comparison between alpha-fetoprotein and beta-trace protein assays. Am J Obstet Gynecol 1975 0.75
166 Normal serum alpha-fetoprotein levels during mid-pregnancy. N Engl J Med 1981 0.75
167 Prenatal diagnosis of genetic disorders. Am J Med 1981 0.75
168 Test for elevated AFP levels. Am J Obstet Gynecol 1978 0.75
169 Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1977 0.75
170 Prenatal diagnosis of neural tube defects. V. The value of amniotic fluid cholinesterase studies. Am J Obstet Gynecol 1980 0.75
171 Alpha-fetoprotein and acetylcholinesterase are not predictive of fetal junctional epidermolysis bullosa, Herlitz variant. Prenat Diagn 1991 0.75
172 Derivation and characterization of a monoclonal hybridoma antibody specific for human alpha-fetoprotein. J Immunol Methods 1980 0.75
173 Detection of the carrier state of Hurler's syndrome by assay of alpha-L-iduronidase in leukocytes. Clin Chim Acta 1976 0.75
174 Maternal serum human chorionic gonadotropin levels in twin pregnancies. Prenat Diagn 1991 0.75
175 The biochemical defect in Farber's disease. Adv Exp Med Biol 1976 0.75
176 Amniotic fluid alpha-fetoprotein in anencephaly. Obstet Gynecol 1974 0.75
177 Physiological studies of human chorionic gonadotropin and free subunits in the amniotic fluid compartment compared to those in maternal serum. J Clin Endocrinol Metab 1988 0.75
178 Prenatal diagnosis of neural tube defects. JAMA 1977 0.75
179 A.F.P. in amniotic fluid and serum. Lancet 1978 0.75
180 Sex-determining genes and the Y-chromosome. N Engl J Med 1973 0.75
181 Familial supernumerary chromosome and malignancy. Cancer Genet Cytogenet 1996 0.75
182 Prenatal detection of neural tube defects: experience with alpha-fetoprotein assays of amniotic fluid. UCLA Forum Med Sci 1978 0.75