PubRank

Dorothy K Grange

Author PubWeight™ 42.26‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 2008 4.87
2 Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 2005 2.40
3 Tetrahydrobiopterin therapy for phenylketonuria in infants and young children. J Pediatr 2011 2.17
4 IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science 2010 1.63
5 Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. J Invest Dermatol 2008 1.52
6 De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A 2010 1.49
7 Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. Hum Mutat 2007 1.34
8 Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet 2012 1.28
9 Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J Pediatr 2009 1.27
10 KATP channels and cardiovascular disease: suddenly a syndrome. Circ Res 2013 1.23
11 Mutations in ECEL1 cause distal arthrogryposis type 5D. Am J Hum Genet 2012 1.04
12 White matter integrity and executive abilities in individuals with phenylketonuria. Mol Genet Metab 2013 1.02
13 Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat 2011 1.01
14 Intracranial infantile myofibromatosis with intraparenchymal involvement. Pediatr Neurosurg 2002 1.01
15 Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. J Med Genet 2011 1.00
16 Cantú syndrome resulting from activating mutation in the KCNJ8 gene. Hum Mutat 2014 0.98
17 Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum. Mol Genet Metab 2010 0.98
18 Pilocytic astrocytoma in a child with Noonan syndrome. Pediatr Blood Cancer 2009 0.95
19 Inhibitory control in children with phenylketonuria. Dev Neuropsychol 2006 0.95
20 LIT1 and H19 methylation defects in isolated hemihyperplasia. Am J Med Genet A 2005 0.91
21 Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Hum Genet 2014 0.88
22 Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet 2009 0.88
23 New cases of Bohring-Opitz syndrome, update, and critical review of the literature. Am J Med Genet A 2006 0.86
24 Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation. Clin Orthop Relat Res 2008 0.86
25 Distinct clinical and histopathological presentations of Danon cardiomyopathy in young women. J Am Coll Cardiol 2010 0.84
26 White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria. Mol Genet Metab 2013 0.84
27 Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study. Mol Genet Metab 2011 0.84
28 Executive strategic processing during verbal fluency performance in children with phenylketonuria. Child Neuropsychol 2010 0.83
29 Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States-lessons learned. J Community Genet 2011 0.82
30 Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement. Am J Med Genet A 2014 0.82
31 Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield. J Mol Diagn 2010 0.82
32 Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis. Am J Med Genet A 2013 0.81
33 Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst. Eur J Med Genet 2012 0.79
34 Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). Am J Med Genet C Semin Med Genet 2016 0.78
35 Response monitoring in children with phenylketonuria. Neuropsychology 2009 0.78
36 Processing speed and executive abilities in children with phenylketonuria. Neuropsychology 2012 0.78
37 Amino acid clearance during acute metabolic decompensation in maple syrup urine disease treated with continuous venovenous hemodialysis with filtration. Pediatr Crit Care Med 2004 0.78
38 Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase. J Perinatol 2005 0.77
39 Case report: lethal multiple pterygium syndrome. Pediatr Pathol Mol Med 2003 0.75
40 Executive response monitoring and inhibitory control in children with phenylketonuria: effects of expectancy. Dev Neuropsychol 2013 0.75
41 Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay. Am J Med Genet A 2011 0.75