A E Lin

Author PubWeight™ 30.97‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila) 1998 3.33
2 Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. Am J Med Genet 1995 1.56
3 Familial Brachmann-de Lange syndrome: further evidence for autosomal dominant inheritance and review of the literature. Am J Med Genet 1993 1.55
4 Another case of spondylocostal dysplasia and severe anomalies. Am J Med Genet 1993 1.55
5 Genetic aspects of atrioventricular septal defects. Am J Med Genet 2000 1.27
6 Aortic dilation, dissection, and rupture in patients with Turner syndrome. J Pediatr 1986 1.18
7 Vitamin K deficiency embryopathy: a phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism. Am J Med Genet 1997 1.07
8 Clinical approach to genetic cardiomyopathy in children. Circulation 1996 1.05
9 Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). J Med Genet 1996 1.02
10 The pattern of cardiovascular malformation in the CHARGE association. Am J Dis Child 1987 1.01
11 Congenital heart disease in supernumerary der(22),t(11;22) syndrome. Clin Genet 1986 0.97
12 Nager acrofacial dysostosis: male-to-male transmission in 2 families. Am J Med Genet 1991 0.97
13 Balloon and blade atrial septostomy facilitated by two-dimensional echocardiography. Am J Cardiol 1986 0.95
14 Neuroblastoma and congenital cardiovascular malformations. Pediatrics 1996 0.91
15 Dilated cardiomyopathy in myotonic dystrophy. J Am Coll Cardiol 1989 0.90
16 Noonan syndrome. J Med Genet 1988 0.90
17 Upper limb malformations associated with congenital heart disease. Am J Cardiol 1985 0.88
18 Subaortic obstruction in complex congenital heart disease: management by proximal pulmonary artery to ascending aorta end to side anastomosis. J Am Coll Cardiol 1986 0.84
19 Case of Pallister-Killian syndrome with imperforate anus. Am J Med Genet 1988 0.82
20 Two additional patients representing the possible human homologue for the mouse mutant disorganisation (Ds) J Med Genet 1991 0.81
21 Heart development and the genetic aspects of cardiovascular malformations. Am J Med Genet 2000 0.81
22 Aortic-root dilatation in Noonan's syndrome. N Engl J Med 1987 0.81
23 Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities. Clin Genet 1992 0.80
24 Using birth defects epidemiology to take CHARGE. Coloboma, Heart defect, choanal Atresia, Retardation, Genital, Ear anomaly. Teratology 1999 0.75
25 Tricuspid atresia in sibs. J Med Genet 1998 0.75
26 Comments on "fetal coronary thrombosis and myocardial infarction ". Teratology 1991 0.75
27 Maldescent of the thymus. Pediatr Pathol 1994 0.75
28 I heartily praise the first issue of Genetics in Medicine for its immediate applicability to clinical genetic practice. Genet Med 2001 0.75
29 Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome. Am J Med Genet 1993 0.75
30 Educating the obstetric community through a genetic newsletter. Am J Hum Genet 1993 0.75
31 Pediatric cardiology. Am J Obstet Gynecol 1988 0.75
32 Prenatal ultrasound diagnosis of fetal scoliosis: spondylothoracic/spondylocostal dysplasia? Prenat Diagn 1989 0.75
33 Telediagnostic conferencing. Am J Dis Child 1993 0.75
34 Oculoauriculovertebral dysplasia. Am J Med Genet 1988 0.75
35 Effect of inhaled salmeterol on sulfur dioxide-induced bronchoconstriction in asthmatic subjects. Chest 1996 0.75
36 Out, out damn spot, or the demise of the Mongolian spot. Am J Dis Child 1993 0.75
37 Need for greater precision in reporting cardiovascular malformations. Am J Med Genet 1994 0.75
38 Airway foreign body. Clin Pediatr (Phila) 1982 0.75
39 Index of suspicion. Case 2.Turner's Syndrome. Pediatr Rev 1996 0.75
40 Maple syrup smell in the intensive care unit. Pediatrics 1982 0.75
41 Unusual pedigree patterns in families with spinal muscular atrophy. Clin Genet 1987 0.75
42 Turner syndrome and hypoplastic left-heart syndrome. Am J Dis Child 1988 0.75
43 Child-friendly healthcare initiative. Pediatrics 2001 0.75
44 Chromosomal abnormality associated with congenital heart defect. Am J Med Genet 1990 0.75
45 Charge association vs. velo-cardio-facial syndrome. Am J Med Genet 1988 0.75
46 Surgical and medical results of complete atrioventricular canal. Am J Cardiol 1988 0.75
47 Familial persistent pulmonary hypertension. J Pediatr 1985 0.75