PubRank

Lorraine Potocki

Author PubWeight™ 45.79‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat 2010 2.93
2 Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res 2002 1.91
3 Enhancing exposure to genetics and genomics through an innovative medical school curriculum. Genet Med 2011 1.79
4 Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet 2013 1.76
5 Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat 2010 1.66
6 Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet 2004 1.57
7 Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet 2010 1.49
8 The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome. Am J Med Genet A 2011 1.42
9 Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Eur J Hum Genet 2009 1.40
10 RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. Am J Med Genet A 2006 1.19
11 Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum Mol Genet 2003 1.17
12 Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2). J Dev Behav Pediatr 2010 1.16
13 Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). Genet Med 2002 1.11
14 SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. Am J Med Genet A 2011 1.06
15 Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications. Am J Med Genet A 2005 1.05
16 A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genet 2012 1.03
17 Common recurrent microduplication syndromes: diagnosis and management in clinical practice. Am J Med Genet A 2010 1.03
18 The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet 2011 1.01
19 HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. Am J Med Genet A 2010 0.99
20 Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Eur J Hum Genet 2005 0.96
21 Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome. J Allergy Clin Immunol 2011 0.94
22 Cognitive and adaptive behavior profiles in Smith-Magenis syndrome. J Dev Behav Pediatr 2006 0.94
23 Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. Am J Med Genet A 2010 0.93
24 Trisomy 14 mosaicism: a case report and review of the literature. J Perinatol 2004 0.93
25 TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet 2013 0.93
26 Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet 2012 0.91
27 Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive. J Pediatr 2010 0.90
28 Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome. Am J Med Genet A 2013 0.90
29 DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation. Adv Otorhinolaryngol 2002 0.87
30 Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. Am J Med Genet A 2011 0.86
31 Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation. Am J Med Genet 2002 0.85
32 Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]. J Child Neurol 2006 0.83
33 MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. Hum Mol Genet 2013 0.83
34 Cardiovascular findings in duplication 17p11.2 syndrome. Genet Med 2011 0.82
35 Central nervous system malformations in oral-facial-digital syndrome, type 1. Am J Med Genet A 2005 0.81
36 Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis. Prenat Diagn 2002 0.80
37 Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome? Clin Dysmorphol 2011 0.77
38 Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation. Int J Pediatr Endocrinol 2011 0.77
39 Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis. J Child Neurol 2008 0.77
40 What syndrome is this? Cockayne syndrome. Pediatr Dermatol 2003 0.76
41 Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation. Am J Med Genet A 2003 0.76
42 Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies. Am J Med Genet A 2009 0.76
43 Holoprosencephaly in an 8.5-week triploidy gestation. Clin Dysmorphol 2009 0.75
44 Stress and well-being among parents of children with Potocki-Lupski syndrome. J Genet Couns 2013 0.75
45 Handing the pen to the patient: reflective writing for children and families affected by genetic conditions. Am J Med Genet A 2014 0.75
46 The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis. Pediatr Radiol 2002 0.75
47 Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol. Am J Med Genet A 2005 0.75