|
1
|
Dupilumab in persistent asthma with elevated eosinophil levels.
|
N Engl J Med
|
2013
|
5.29
|
|
2
|
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.
|
Mol Cytogenet
|
2008
|
2.59
|
|
3
|
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
|
Proc Natl Acad Sci U S A
|
2003
|
1.98
|
|
4
|
Dupilumab treatment in adults with moderate-to-severe atopic dermatitis.
|
N Engl J Med
|
2014
|
1.82
|
|
5
|
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
|
Am J Med Genet A
|
2011
|
1.43
|
|
6
|
Quantification of cerebral cannabinoid receptors subtype 1 (CB1) in healthy subjects and schizophrenia by the novel PET radioligand [11C]OMAR.
|
Neuroimage
|
2010
|
1.19
|
|
7
|
Further delineation of Kabuki syndrome in 48 well-defined new individuals.
|
Am J Med Genet A
|
2005
|
1.17
|
|
8
|
SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.
|
Hum Genet
|
2003
|
0.90
|
|
9
|
Immune abnormalities are a frequent manifestation of Kabuki syndrome.
|
Am J Med Genet A
|
2005
|
0.90
|
|
10
|
TGIF, a gene associated with human brain defects, regulates neuronal development.
|
Dev Dyn
|
2006
|
0.88
|
|
11
|
Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population.
|
Am J Med Genet
|
2002
|
0.81
|
|
12
|
Revision of "A 223-kb de novo deletion of PAX9 in a patient with oligodontia".
|
J Craniofac Surg
|
2012
|
0.80
|
|
13
|
Symptomatic Chiari I malformation in Kabuki syndrome.
|
Am J Med Genet A
|
2005
|
0.80
|
|
14
|
Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).
|
Am J Med Genet A
|
2015
|
0.79
|
|
15
|
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.
|
Hum Genet
|
2002
|
0.78
|
|
16
|
A 223-kb de novo deletion of PAX9 in a patient with oligodontia.
|
J Craniofac Surg
|
2010
|
0.76
|
|
17
|
Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.
|
Mol Genet Metab
|
2012
|
0.75
|
|
18
|
What syndrome is this? Disorganization syndrome.
|
Pediatr Dermatol
|
2007
|
0.75
|
|
19
|
Identification of a submicroscopic deletion of SHH associated with the holoprosencephaly spectrum by array-based CGH.
|
Clin Genet
|
2006
|
0.75
|