PubRank

Susan Blaser

Author PubWeight™ 78.76‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain 2010 2.19
2 Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain 2013 2.09
3 Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol 2009 1.98
4 Neurological complications of kernicterus. Can J Neurol Sci 2005 1.72
5 Temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. Laryngoscope 2005 1.61
6 A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol 2003 1.57
7 The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics 2006 1.50
8 Temporal bone imaging in GJB2 deafness. Laryngoscope 2006 1.49
9 Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology 2012 1.48
10 Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum Genet 2013 1.46
11 Hydrocephalus status in spina bifida: an evaluation of variations in neuropsychological outcomes. J Neurosurg Pediatr 2011 1.46
12 Prospective study of activities of daily living outcomes in children with cerebellar atrophy. Dev Med Child Neurol 2013 1.37
13 Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet 2013 1.36
14 Neurological complications of cardio-facio-cutaneous syndrome. Dev Med Child Neurol 2007 1.22
15 Neonatal encephalopathy: a prospective comparison of head US and MRI. Pediatr Radiol 2010 1.15
16 Imaging of the brain in full-term neonates: does sonography still play a role? Pediatr Radiol 2006 1.13
17 A case series of pediatric primary central nervous system lymphoma: favorable outcome without cranial irradiation. Pediatr Blood Cancer 2006 1.13
18 Fetal cardiac tumors: a single-center experience of 40 cases. Prenat Diagn 2010 1.11
19 Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome. Am J Med Genet A 2011 1.11
20 The old and the new: supratentorial MR findings in Chiari II malformation. Childs Nerv Syst 2007 1.07
21 Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. Am J Med Genet A 2007 1.06
22 The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance. Am J Med Genet A 2007 1.06
23 Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron 2013 1.06
24 Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). Am J Med Genet A 2011 1.06
25 Basal ganglia germinoma in children with associated ipsilateral cerebral and brain stem hemiatrophy. Pediatr Radiol 2006 1.06
26 Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development. Radiographics 2006 1.01
27 Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients. J Child Neurol 2012 1.00
28 Intracranial involvement in extramedullary hematopoiesis: case report and review of the literature. Pediatr Radiol 2004 0.98
29 Retropharyngeal and parapharyngeal infections in children: the Toronto experience. Int J Pediatr Otorhinolaryngol 2005 0.97
30 Late-onset cobalamin-C disorder: a challenging diagnosis. Am J Med Genet A 2007 0.97
31 Complex II deficiency--a case report and review of the literature. Am J Med Genet A 2013 0.96
32 Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? Mol Genet Metab 2011 0.94
33 Brain abnormalities in patients with Beckwith-Wiedemann syndrome. Am J Med Genet A 2012 0.93
34 Partial agenesis of the corpus callosum in spina bifida meningomyelocele and potential compensatory mechanisms. J Clin Exp Neuropsychol 2008 0.93
35 Weight gain in craniopharyngioma--a model for hypothalamic obesity. J Pediatr Endocrinol Metab 2006 0.93
36 Petrified ears in a patient with Keutel syndrome: temporal bone CT findings. Pediatr Radiol 2005 0.92
37 Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. J Child Neurol 2006 0.92
38 Auditory interhemispheric transfer in relation to patterns of partial agenesis and hypoplasia of the corpus callosum in spina bifida meningomyelocele. J Int Neuropsychol Soc 2008 0.91
39 Evaluation of subcortical white matter and deep white matter tracts in malformations of cortical development. Epilepsia 2007 0.91
40 Computed tomography and/or magnetic resonance imaging before pediatric cochlear implantation? Developing an investigative strategy. Otol Neurotol 2007 0.90
41 Traumatic perilymphatic fistula with pneumolabyrinth: diagnosis and management. Laryngoscope 2011 0.90
42 Basilar artery duplication associated with pituitary duplication: a new finding. AJNR Am J Neuroradiol 2003 0.90
43 Electrophysiologic and behavioral outcomes of cochlear implantation in children with auditory nerve hypoplasia. Ear Hear 2011 0.90
44 Severe cleidocranial dysplasia can mimic hypophosphatasia. Eur J Pediatr 2002 0.89
45 Fluid-attenuated inversion recovery ring sign as a marker of dysembryoplastic neuroepithelial tumors. J Comput Assist Tomogr 2007 0.89
46 1H MR spectroscopic characteristics of kernicterus: a possible metabolic signature. AJNR Am J Neuroradiol 2005 0.89
47 Mycoplasma pneumoniae ecephalitis. Semin Pediatr Infect Dis 2003 0.86
48 Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patient. Pediatrics 2014 0.85
49 Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome? Clin Dysmorphol 2006 0.85
50 Substrate reduction therapy in juvenile GM2 gangliosidosis. Mol Genet Metab 2009 0.85
51 Bilateral cochlear implantation in children with anomalous cochleovestibular anatomy. Arch Otolaryngol Head Neck Surg 2009 0.83
52 Inherent diagnostic and treatment challenges in germinoma of the basal ganglia: a case report and review of the literature. J Neurooncol 2008 0.83
53 Meningioma with dural venous sinus invasion and jugular vein extension. J Neurosurg Pediatr 2008 0.83
54 Magnetic resonance imaging of a unique mutation in a family with Pelizaeus-Merzbacher disease. Am J Med Genet A 2010 0.83
55 A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features. Am J Med Genet A 2010 0.83
56 Fetal ventriculomegaly secondary to isolated large choroid plexus cysts: prenatal findings and postnatal outcome. Prenat Diagn 2011 0.82
57 Sub-Tenon's space abscess after strabismus surgery. J AAPOS 2009 0.82
58 Diffusion tensor imaging of midline posterior fossa malformations. Pediatr Radiol 2006 0.81
59 Alexander disease as a cause of nocturnal vomiting in a 7-year-old girl. Pediatr Radiol 2009 0.81
60 Morning glory disc anomaly, midline cranial defects and abnormal carotid circulation: an association worth looking for. Pediatr Radiol 2004 0.81
61 Neuropsychological profiles of children with aqueductal stenosis and Spina Bifida myelomeningocele. J Int Neuropsychol Soc 2012 0.81
62 High-resolution cone-beam computed tomography: a potential tool to improve atraumatic electrode design and position. Acta Otolaryngol 2012 0.81
63 Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene. Am J Med Genet A 2012 0.81
64 Malformations of the fetal dural sinuses. Can J Neurol Sci 2009 0.80
65 Abnormal fetal cerebral laminar organization in cobblestone complex as seen on post-mortem MRI and DTI. Pediatr Radiol 2009 0.80
66 C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome. Pediatr Radiol 2008 0.80
67 Decisions regarding intracranial complications from acute mastoiditis in children. Curr Opin Otolaryngol Head Neck Surg 2011 0.79
68 Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. Mol Genet Metab 2012 0.79
69 Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement. Neuroradiology 2012 0.79
70 Ossicular fusion and cholesteatoma in auriculo-condylar syndrome: in vivo evidence of arrest of embryogenesis. Laryngoscope 2012 0.79
71 Color Doppler US of normal cerebral venous sinuses in neonates: a comparison with MR venography. Pediatr Radiol 2012 0.79
72 Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis. J Child Neurol 2003 0.78
73 Clinical images: Epidural lipomatosis in a 14-year-old boy with systemic lupus erythematosus. Arthritis Rheum 2002 0.78
74 Cochleovestibular anomalies in children with cholesteatoma. Laryngoscope 2008 0.78
75 The fetal cerebellar vermis: assessment for abnormal development by ultrasonography and magnetic resonance imaging. Ultrasound Q 2007 0.78
76 Limitations of routine neuroimaging in predicting outcomes of preterm infants. Neuroradiology 2013 0.77
77 Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. Am J Med Genet A 2007 0.77
78 MRI of the fetal eyes: morphologic and biometric assessment for abnormal development with ultrasonographic and clinicopathologic correlation. Pediatr Radiol 2008 0.77
79 A case report of prenatal exposure to rosuvastatin and telmisartan. Paediatr Child Health 2009 0.77
80 Hydrocephalus and macrocephaly: new manifestations of neonatal lupus erythematosus. Arthritis Rheum 2007 0.77
81 Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation. Pediatr Radiol 2013 0.76
82 Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations. Pediatr Neurol 2013 0.76
83 Postshunt lateral ventricular volume, white matter integrity, and intellectual outcomes in spina bifida and hydrocephalus. J Neurosurg Pediatr 2015 0.76
84 Fetal syringomyelia. Acta Neuropathol Commun 2014 0.75
85 Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome? Am J Med Genet A 2012 0.75
86 Abnormalities of the foetal cerebral cortex. Prenat Diagn 2009 0.75
87 Epidural hematoma following tissue plasminogen activator (tPA) therapy for pulmonary embolism in a pediatric patient with stage IV Burkitt's lymphoma: a case report. Thromb Res 2007 0.75
88 Neuroimaging findings in isoniazid central nervous system toxicity, presumed intramyelinic edema. Eur J Paediatr Neurol 2008 0.75
89 XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome. Am J Med Genet A 2013 0.75
90 Prenatal detection of microtia by MRI in a fetus with trisomy 22. Pediatr Radiol 2006 0.75
91 Leukocoria caused by intraocular heterotopic brain tissue. Arch Ophthalmol 2004 0.75
92 Phalangeal hypoplasia, mental retardation, agenesis of the corpus callosum, brainstem abnormalities and ectopic grey matter: unique case or newly recognized syndrome? Clin Dysmorphol 2009 0.75
93 Thyroid gland and carotid artery anomalies in 22q11.2 deletion syndromes. Laryngoscope 2009 0.75
94 Dilated endolymphatic fossae in a 2800-year-old Egyptian mummy. J Otolaryngol 2007 0.75
95 Predilection of retinoblastoma metastases for the mandible. Med Pediatr Oncol 2002 0.75
96 Fetal MR imaging of atelosteogenesis type II (AO-II). Pediatr Radiol 2008 0.75
97 RETINAL DETACHMENT AND RETROBULBAR CYSTS IN A LARGE COHORT OF OPTIC NERVE COLOBOMA. Retina 2017 0.75
98 Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature. Am J Med Genet A 2012 0.75
99 Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum. Am J Med Genet A 2013 0.75
100 Cavum veli interpositi: prenatal diagnosis and postnatal outcome. Prenat Diagn 2005 0.75