| 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
|