Published in Am J Med Genet A on December 15, 2007
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
A developmental and genetic classification for malformations of cortical development: update 2012. Brain (2012) 3.14
A developmental and genetic classification for midbrain-hindbrain malformations. Brain (2009) 2.47
High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities. Am J Med Genet A (2010) 1.31
Neurocutaneous vascular syndromes. Childs Nerv Syst (2010) 0.99
Increase in cerebellar volume in Cavalier King Charles Spaniels with Chiari-like malformation and its role in the development of syringomyelia. PLoS One (2012) 0.98
Cerebral cortex expansion and folding: what have we learned? EMBO J (2016) 0.81
Clinical review of genetic epileptic encephalopathies. Eur J Med Genet (2012) 0.81
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. BMC Med Genet (2017) 0.80
Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion. Am J Med Genet A (2014) 0.78
Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3. Childs Nerv Syst (2014) 0.77
Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy. Elife (2015) 0.77
Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update. Childs Nerv Syst (2009) 0.75
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea. Korean J Pediatr (2016) 0.75
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence? Eur J Hum Genet (2014) 0.75
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight (2016) 0.75
Thick Corpus Callosum in Children. J Clin Neurol (2017) 0.75
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. Medicine (Baltimore) (2017) 0.75
Corpus callosum thickness in children: an MR pattern-recognition approach on the midsagittal image. Pediatr Radiol (2014) 0.75
Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet (2007) 6.75
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination. Nat Genet (2003) 5.43
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
G protein-coupled receptor-dependent development of human frontal cortex. Science (2004) 4.42
Prevalence and epidemiologic characteristics of FASD from various research methods with an emphasis on recent in-school studies. Dev Disabil Res Rev (2009) 4.21
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet (2002) 4.01
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A (2004) 3.75
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron (2004) 3.59
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet (2006) 3.55
Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. Pediatrics (2004) 3.48
Hedgehog/Wnt feedback supports regenerative proliferation of epithelial stem cells in bladder. Nature (2011) 3.15
A developmental and genetic classification for malformations of cortical development: update 2012. Brain (2012) 3.14
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94
Targeting the tumour vasculature: insights from physiological angiogenesis. Nat Rev Cancer (2010) 2.93
Clinical genetic testing for patients with autism spectrum disorders. Pediatrics (2010) 2.87
Granulocyte-colony stimulating factor promotes lung metastasis through mobilization of Ly6G+Ly6C+ granulocytes. Proc Natl Acad Sci U S A (2010) 2.77
An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am J Med Genet A (2005) 2.74
The epidemiology of fetal alcohol syndrome and partial FAS in a South African community. Drug Alcohol Depend (2006) 2.71
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A (2012) 2.70
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet (2008) 2.65
Encephalitis lethargica syndrome: 20 new cases and evidence of basal ganglia autoimmunity. Brain (2003) 2.63
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry (2008) 2.60
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet (2007) 2.59
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet (2008) 2.59
Elements of morphology: standard terminology for the periorbital region. Am J Med Genet A (2009) 2.53
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet (2007) 2.51
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell (2010) 2.49
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet (2004) 2.47
A developmental and genetic classification for midbrain-hindbrain malformations. Brain (2009) 2.47
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet (2010) 2.44
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
WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet (2010) 2.40
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc Natl Acad Sci U S A (2009) 2.36
Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options. Trends Neurosci (2008) 2.28
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet (2005) 2.22
Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q. Am J Med Genet A (2003) 2.17
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet (2008) 2.16
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain (2010) 2.15
Elements of morphology: standard terminology for the head and face. Am J Med Genet A (2009) 2.15
How best to use CGH arrays in the clinical setting. Genet Med (2009) 2.14
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet (2012) 2.12
Nutritional phases in Prader-Willi syndrome. Am J Med Genet A (2011) 2.08
Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med (2005) 2.04
Colonoscopy: practice variation among 69 hospital-based endoscopists. Gastrointest Endosc (2003) 2.02
Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics (2008) 2.02
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet (2005) 1.98
Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics (2014) 1.97
Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms. Genome Res (2007) 1.96
Coronary bypass surgery performed off pump does not result in lower in-hospital morbidity than coronary artery bypass grafting performed on pump. Circulation (2004) 1.95
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet (2011) 1.94
Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis (2006) 1.93
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet (2012) 1.93
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89
Follow-up of children of depressed mothers exposed or not exposed to antidepressant drugs during pregnancy. J Pediatr (2003) 1.89
Neural mechanisms associated with food motivation in obese and healthy weight adults. Obesity (Silver Spring) (2009) 1.88
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
Deletion of ERK2 mitogen-activated protein kinase identifies its key roles in cortical neurogenesis and cognitive function. J Neurosci (2008) 1.84
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
Foundations of representation: where might graphical symbol systems come from? Cogn Sci (2007) 1.80
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics (2008) 1.80
Fetal alcohol syndrome epidemiology in a South African community: a second study of a very high prevalence area. J Stud Alcohol (2005) 1.79
Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics (2006) 1.77
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat (2004) 1.76
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. Br J Haematol (2004) 1.76
Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet (2003) 1.76
Spontaneous resolution in patients with congenital Brown syndrome. J AAPOS (2008) 1.74
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain (2007) 1.73
Patient characteristics are important determinants of neurodevelopmental outcome at one year of age after neonatal and infant cardiac surgery. J Thorac Cardiovasc Surg (2007) 1.71
Induction of interleukin-12 and gamma interferon requires tumor necrosis factor alpha for protective T1-cell-mediated immunity to pulmonary Cryptococcus neoformans infection. Infect Immun (2002) 1.70
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain (2012) 1.69
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet (2009) 1.66
The relationship of postoperative electrographic seizures to neurodevelopmental outcome at 1 year of age after neonatal and infant cardiac surgery. J Thorac Cardiovasc Surg (2005) 1.65
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet (2004) 1.63
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Hum Genet (2013) 1.63
The practice of clinical genetics: a survey of practitioners. Genet Med (2002) 1.62
Impact of nodal metastases on prognosis in patients with well-differentiated thyroid cancer. Arch Otolaryngol Head Neck Surg (2002) 1.62
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet (2004) 1.62
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain (2010) 1.61
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet (2003) 1.61
The mutation spectrum in RECQL4 diseases. Eur J Hum Genet (2008) 1.61
Motor proficiency in children with neurofibromatosis type 1. Pediatr Phys Ther (2010) 1.61
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics (2007) 1.60
Impaired eyeblink conditioning in children with fetal alcohol syndrome. Alcohol Clin Exp Res (2007) 1.60
A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export. J Neurosci (2009) 1.59
Flores hominid: new species or microcephalic dwarf? Anat Rec A Discov Mol Cell Evol Biol (2006) 1.57