PubRank

D McDonald-McGinn

Author PubWeight™ 30.33‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 1998 3.86
2 Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genet Med 2001 1.81
3 Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol 2001 1.75
4 A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet 1997 1.71
5 The neurocognitive phenotype of the 22q11.2 deletion syndrome: selective deficit in visual-spatial memory. J Clin Exp Neuropsychol 2001 1.70
6 The 22q11.2 deletion syndrome. Adv Pediatr 2001 1.53
7 Classical Noonan syndrome is not associated with deletions of 22q11. Am J Med Genet 1995 1.41
8 Ankyloblepharon filiforme adnatum in trisomy 18. J Pediatr Ophthalmol Strabismus 1994 1.31
9 Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression. J Pediatr 1994 1.30
10 Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. Hum Mol Genet 1995 1.21
11 High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype. J Med Genet 1993 1.14
12 Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol 2010 1.04
13 Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Diagn Lab Immunol 1999 1.03
14 Polymicrogyria in chromosome 22 delection syndrome. Neurology 1998 0.90
15 Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11. Am J Med Genet 1997 0.89
16 Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age. Pediatrics 2001 0.89
17 Variability in the Michelin tire syndrome. A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q. J Am Acad Dermatol 1993 0.86
18 Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. Clin Genet 2007 0.86
19 New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma. Am J Med Genet 1993 0.84
20 De novo interstitial deletion of the long arm of chromosome 3: 46,XX,del(3)(q25.1q26.1). Clin Genet 1993 0.82
21 Frontonasal malformation and cloacal exstrophy: a previously unreported association. Am J Med Genet 1996 0.79
22 46,XX,15p+ documented as dup (17p) by fluorescence in situ hybridization. Am J Med Genet 1993 0.79
23 Paternal transmission of congenital myotonic dystrophy. J Med Genet 1994 0.78
24 Human malformations similar to those in the mouse mutation disorganization (Ds). Hum Genet 1993 0.78
25 Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism. Am J Med Genet 1995 0.77
26 Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes. Prog Clin Biol Res 1993 0.75