PubRank

H H Punnett

Author PubWeight™ 40.48‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet 1994 3.38
2 The association of the DiGeorge anomalad with partial monosomy of chromosome 22. J Pediatr 1982 2.21
3 Comparative behavior of ring chromosomes. Am J Hum Genet 1970 1.87
4 Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. Am J Hum Genet 1995 1.67
5 Prenatal diagnosis of the 22q11 deletion syndrome. Prenat Diagn 1997 1.43
6 Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families. Am J Med Genet 1988 1.20
7 Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families. Am J Med Genet 1996 1.18
8 OA1 mutations and deletions in X-linked ocular albinism. Am J Hum Genet 1998 1.15
9 Limitations of metachromasia as a diagnostic aid in pediatrics. N Engl J Med 1969 1.05
10 A case of cyclopia. Am J Obstet Gynecol 1972 1.03
11 Truncus arteriosus and other lethal internal anomalies in Goltz syndrome. Am J Med Genet 2000 1.02
12 Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype. Am J Hum Genet 1998 1.01
13 An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. Am J Hum Genet 1989 1.00
14 Deletion of the long arm of chromosome 16 and an unexpected Duffy blood group phenotype reveal a possible autosomal linkage. Nature 1967 0.99
15 Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. Am J Hum Genet 1998 0.96
16 Possible graft-versus-host reaction after intrauterine transfusion for Rh erythroblastosis fetalis. N Engl J Med 1969 0.96
17 A ring 9 chromosome. Repository identification no. GM-166. Cytogenet Cell Genet 1975 0.94
18 Syndrome of ankylosis, facial anomalies, and pulmonary hypoplasia. J Pediatr 1974 0.92
19 5p14 deletion associated with microcephaly and seizures. J Med Genet 2000 0.89
20 Consistency of isochromosome 7q and trisomy 8 in hepatosplenic gammadelta T-cell lymphoma: detection by fluorescence In situ hybridization of a splenic touch-preparation from a pediatric patient. Pediatr Dev Pathol 1999 0.89
21 Fine structure of skeletal dysplasia as seen in pseudoachondroplastic spondyloepiphyseal dysplasia and asphyxiating thoracic dystrophy. Birth Defects Orig Artic Ser 1974 0.88
22 Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21. Hum Mol Genet 1996 0.83
23 Hunter syndrome in girl. N Engl J Med 1973 0.83
24 [The partial deletion of the long arm of chromosome 18 (syndrome 18Q-). Report of two cases]. Ann Genet 1967 0.81
25 Globoid cells, glial nodules, and peculiar fibrillary changes in the cerebro-hepato-renal syndrome of Zellweger. Ann Neurol 1977 0.81
26 A syndrome of ocular abnormalities, calcification of cartilage, and failure to thrive. J Pediatr 1968 0.81
27 Carrier detection in cystic fibrosis. J Pediatr 1985 0.80
28 A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant). Am J Hum Genet 1990 0.80
29 Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation. Am J Med Genet 1994 0.80
30 Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen. Hum Genet 1994 0.80
31 Focal dermal hypoplasia symdrome in a male. Clin Genet 1975 0.80
32 An improved method for phenotyping of alpha 1-antitrypsin variants using separator isoelectric focusing on thin-layer agarose gel. Anal Biochem 1982 0.80
33 Hyperdiploidy and trisomy 12 in the cystic partially differentiated nephroblastoma. Hum Pathol 1996 0.79
34 Clinical manifestations of familial 13;18 translocation. J Med Genet 1980 0.79
35 Maternal uniparental disomy of chromosome 21 in a normal child. Am J Med Genet 1999 0.78
36 Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families. Hum Mol Genet 1995 0.78
37 Retinal pigment epithelium in a case of trisomy 18. Am J Ophthalmol 1973 0.77
38 Trisomy 22 mechanisms. Hum Genet 1981 0.76
39 Confirmation of prenatally ascertained trisomy 20 mosaicism. Prenat Diagn 1990 0.75
40 Letter: The Russell-Silver syndrome? or trisomy 18? Pediatrics 1973 0.75
41 Cerebellum in partial trisomy 18. Am J Dis Child 1969 0.75
42 Consistent aneuploidies in choroid plexus papillomas. Genes Chromosomes Cancer 1999 0.75
43 A (7;18) translocation. 46,XY. Repository identification No. GM-657. Cytogenet Cell Genet 1979 0.75
44 How to seek funds from Federal and private sources. Birth Defects Orig Artic Ser 1990 0.75
45 An (X;1) translocation, balanced, 46 chromosomes. Repository identification no. GM-97. Cytogenet Cell Genet 1974 0.75
46 Definition of heterozygosity. J Pediatr 1982 0.75
47 Letter: Testicular feminisation and inguinal hernia. Lancet 1973 0.75