Published in Am J Med Genet A on July 04, 2013
Targeting BTK with ibrutinib in relapsed or refractory mantle-cell lymphoma. N Engl J Med (2013) 6.70
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
PI3Kδ inhibition by idelalisib in patients with relapsed indolent lymphoma. N Engl J Med (2014) 3.86
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
Post-mortem MRI versus conventional autopsy in fetuses and children: a prospective validation study. Lancet (2013) 2.96
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet (2013) 2.42
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain (2013) 2.40
Selective CDK4/6 inhibition with tumor responses by PD0332991 in patients with mantle cell lymphoma. Blood (2012) 2.37
Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med (2006) 2.28
Lenalidomide plus Rituximab as Initial Treatment for Mantle-Cell Lymphoma. N Engl J Med (2015) 2.10
Clinical practice guidelines for communicating prognosis and end-of-life issues with adults in the advanced stages of a life-limiting illness, and their caregivers. Med J Aust (2007) 1.99
Aberrant immunoglobulin class switch recombination and switch translocations in activated B cell-like diffuse large B cell lymphoma. J Exp Med (2007) 1.94
Severe cerebellitis following methadone poisoning. Pediatr Radiol (2007) 1.93
Mechanism-based epigenetic chemosensitization therapy of diffuse large B-cell lymphoma. Cancer Discov (2013) 1.90
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am J Hum Genet (2013) 1.87
Methodological Considerations in Studying Centenarians: Lessons Learned From the Georgia Centenarian Studies. Annu Rev Gerontol Geriatr (2007) 1.85
High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors. Genes Chromosomes Cancer (2012) 1.82
Detection of genomic imbalances in microdissected Hodgkin and Reed-Sternberg cells of classical Hodgkin's lymphoma by array-based comparative genomic hybridization. Haematologica (2008) 1.80
Systemic soluble receptor for advanced glycation endproducts is a biomarker of emphysema and associated with AGER genetic variants in patients with chronic obstructive pulmonary disease. Am J Respir Crit Care Med (2013) 1.79
A comparative case study of two models of a clinical informaticist service. BMJ (2002) 1.79
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet (2004) 1.78
Cognitive function, physical performance, health, and disease: norms from the georgia centenarian study. Exp Aging Res (2010) 1.75
Molecular characterization and mapping of ALMT1, the aluminium-tolerance gene of bread wheat (Triticum aestivum L.). Genome (2005) 1.68
Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings. Pediatr Radiol (2006) 1.61
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest (2011) 1.60
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet (2013) 1.59
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet (2012) 1.57
Symptomatic management of calciphylaxis: a case series and review of the literature. J Pain Symptom Manage (2006) 1.53
Bortezomib plus CHOP-rituximab for previously untreated diffuse large B-cell lymphoma and mantle cell lymphoma. J Clin Oncol (2010) 1.51
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet (2011) 1.50
Development and characterization of a novel human Waldenström macroglobulinemia cell line: RPCI-WM1, Roswell Park Cancer Institute - Waldenström Macroglobulinemia 1. Leuk Lymphoma (2012) 1.50
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. Eur J Hum Genet (2008) 1.49
A comprehensive microarray-based DNA methylation study of 367 hematological neoplasms. PLoS One (2009) 1.48
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. Eur J Hum Genet (2005) 1.44
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. AJNR Am J Neuroradiol (2002) 1.42
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One (2013) 1.40
Survival analysis for apparent diffusion coefficient measures in children with embryonal brain tumours. Neuro Oncol (2012) 1.40
The lateral triangle flap--a new approach for lateral orbitotomy. Orbit (2007) 1.39
'Why do children with cerebral palsy discontinue therapy with botulinum toxin A?'. Dev Med Child Neurol (2006) 1.38
Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency. J Immunol (2011) 1.32
Perceptions of technology among older adults. J Gerontol Nurs (2012) 1.30
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region. Epilepsia (2010) 1.29
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene. Eur J Med Genet (2010) 1.27
Clinical and molecular genetic features of ARC syndrome. Hum Genet (2006) 1.26
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain (2007) 1.25
Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders. Am J Med Genet A (2013) 1.25
A chromosomal translocation in cyclin D1-negative/cyclin D2-positive mantle cell lymphoma fuses the CCND2 gene to the IGK locus. Blood (2006) 1.25
Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am J Hum Genet (2002) 1.24
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. Hum Genet (2010) 1.24
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet (2013) 1.22
Cancer cachexia: impact, mechanisms and emerging treatments. J Cachexia Sarcopenia Muscle (2012) 1.21
Post mortem magnetic resonance imaging in the fetus, infant and child: a comparative study with conventional autopsy (MaRIAS Protocol). BMC Pediatr (2011) 1.21
Understanding centenarians' psychosocial dynamics and their contributions to health and quality of life. Curr Gerontol Geriatr Res (2010) 1.19
Lacrimal canalicular bypass surgery with the Lester Jones tube. Am J Ophthalmol (2004) 1.18
Individual differences in the effects of disease and disability on depressive symptoms: the role of age and subjective health. Int J Aging Hum Dev (2004) 1.18
Predicting successful aging in a population-based sample of georgia centenarians. Curr Gerontol Geriatr Res (2010) 1.18
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. Hum Mutat (2013) 1.17
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A (2015) 1.17
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. J Invest Dermatol (2004) 1.16
Discrimination of paediatric brain tumours using apparent diffusion coefficient histograms. Eur Radiol (2011) 1.15
Spontaneous regression of residual low-grade cerebellar pilocytic astrocytomas in children. Pediatr Radiol (2005) 1.15
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany. Orphanet J Rare Dis (2011) 1.14
Evolution of cerebral arteriopathies in childhood arterial ischemic stroke. Ann Neurol (2006) 1.12
Imaging characteristics of primary cranial Ewing sarcoma. Pediatr Radiol (2005) 1.12
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet (2013) 1.11
t(6;14)(p22;q32): a new recurrent IGH@ translocation involving ID4 in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Blood (2007) 1.10
Clinical and radiological features of childhood cerebral infarction following varicella zoster virus infection. Dev Med Child Neurol (2007) 1.10
Filamin A mutation is one cause of FG syndrome. Am J Med Genet A (2007) 1.10
A clinical service in the UK to predict fetal Rh (Rhesus) D blood group using free fetal DNA in maternal plasma. Ann N Y Acad Sci (2004) 1.09
Fish oil in cancer cachexia. Aust Fam Physician (2015) 1.07
The development of childhood asthma: lessons from the German Multicentre Allergy Study (MAS). Paediatr Respir Rev (2002) 1.07
Immunoglobulin heavy chain locus chromosomal translocations in B-cell precursor acute lymphoblastic leukemia: rare clinical curios or potent genetic drivers? Blood (2009) 1.06
Fetal genotyping for the K (Kell) and Rh C, c, and E blood groups on cell-free fetal DNA in maternal plasma. Transfusion (2007) 1.06
Phase 1 trial of bortezomib plus R-CHOP in previously untreated patients with aggressive non-Hodgkin lymphoma. Cancer (2010) 1.05
Response to second-line therapy defines the potential for cure in patients with recurrent diffuse large B-cell lymphoma: implications for the development of novel therapeutic strategies. Clin Lymphoma Myeloma Leuk (2010) 1.05
Febrile infection-related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood. Epilepsia (2010) 1.04
Impact response of restrained PMHS in frontal sled tests: skeletal deformation patterns under seat belt loading. Stapp Car Crash J (2009) 1.04
Activities of SYK and PLCgamma2 predict apoptotic response of CLL cells to SRC tyrosine kinase inhibitor dasatinib. Clin Cancer Res (2010) 1.04
From 'reckless' to 'mindful' in the use of outcome data to inform service-level performance management: perspectives from child mental health. BMJ Qual Saf (2014) 1.04
Magnetic resonance image correlates of hemiparesis after neonatal and childhood middle cerebral artery stroke. Pediatrics (2005) 1.03
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. Brain (2012) 1.02
Neurospheres modified to produce glial cell line-derived neurotrophic factor increase the survival of transplanted dopamine neurons. J Neurosci Res (2002) 1.01
Bimosiamose, an inhaled small-molecule pan-selectin antagonist, attenuates late asthmatic reactions following allergen challenge in mild asthmatics: a randomized, double-blind, placebo-controlled clinical cross-over-trial. Pulm Pharmacol Ther (2005) 1.01
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat (2007) 1.01
Personality and longevity: findings from the Georgia Centenarian Study. Age (Dordr) (2006) 1.01
Understanding dementia prevalence among centenarians. J Gerontol A Biol Sci Med Sci (2012) 0.99
A recurrent 11q aberration pattern characterizes a subset of MYC-negative high-grade B-cell lymphomas resembling Burkitt lymphoma. Blood (2014) 0.98
Induction of prolonged early G1 arrest by CDK4/CDK6 inhibition reprograms lymphoma cells for durable PI3Kδ inhibition through PIK3IP1. Cell Cycle (2013) 0.98
The older they are, the less successful they become? Findings from the georgia centenarian study. J Aging Res (2012) 0.96
Cognitive performance in centenarians and the oldest old: norms from the Georgia Centenarian Study. Neuropsychol Dev Cogn B Aging Neuropsychol Cogn (2010) 0.96
Deep sequencing reveals clonal evolution patterns and mutation events associated with relapse in B-cell lymphomas. Genome Biol (2014) 0.96
Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary. J Child Neurol (2012) 0.96
Multi-centre reproducibility of diffusion MRI parameters for clinical sequences in the brain. NMR Biomed (2015) 0.96
Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defects. PLoS One (2013) 0.95
Characterization of ibrutinib-sensitive and -resistant mantle lymphoma cells. Br J Haematol (2014) 0.95