Published in Am J Med Genet A on May 24, 2013
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell (2011) 3.95
A community-driven global reconstruction of human metabolism. Nat Biotechnol (2013) 3.89
Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother. Lancet (2006) 3.72
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
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
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Controlled vocabularies and semantics in systems biology. Mol Syst Biol (2011) 2.79
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet (2002) 2.33
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10
PhenoTips: patient phenotyping software for clinical and research use. Hum Mutat (2013) 2.04
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat (2008) 2.00
Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol (2009) 1.98
Sampling and Definitions of Placental Lesions: Amsterdam Placental Workshop Group Consensus Statement. Arch Pathol Lab Med (2016) 1.96
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet (2012) 1.90
Safety of codeine during breastfeeding: fatal morphine poisoning in the breastfed neonate of a mother prescribed codeine. Can Fam Physician (2007) 1.83
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet (2012) 1.82
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. Am J Hum Genet (2009) 1.58
Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Am J Hum Genet (2002) 1.54
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet (2012) 1.52
Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis. Blood (2005) 1.52
Use of atypical antipsychotics during pregnancy and the risk of neural tube defects in infants. Am J Psychiatry (2002) 1.51
Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae. Dev Biol (2008) 1.51
A puzzling intrauterine death: non-compaction of the fetal ventricular myocardium presenting with reversed end-diastolic flow velocity in the umbilical arteries. J Obstet Gynaecol Can (2005) 1.51
Williams syndrome in a preterm infant with phenotype of Alagille syndrome. Am J Med Genet A (2008) 1.49
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet (2008) 1.49
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet (2012) 1.46
Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues. Hum Mol Genet (2010) 1.46
Mutations in EZH2 cause Weaver syndrome. Am J Hum Genet (2011) 1.46
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat Genet (2011) 1.46
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet (2004) 1.45
High-grade glioma formation results from postnatal pten loss or mutant epidermal growth factor receptor expression in a transgenic mouse glioma model. Cancer Res (2006) 1.42
Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion. Prenat Diagn (2003) 1.39
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet (2013) 1.36
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet (2011) 1.35
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia (2013) 1.35
Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex. J Pediatr (2003) 1.33
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proc Natl Acad Sci U S A (2013) 1.31
Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy. Hum Mol Genet (2004) 1.30
Path2Models: large-scale generation of computational models from biochemical pathway maps. BMC Syst Biol (2013) 1.29
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat (2011) 1.28
An ultrasonographic and histological study of intraneural injection and electrical stimulation in pigs. Anesth Analg (2007) 1.26
Clinical and molecular genetic features of ARC syndrome. Hum Genet (2006) 1.26
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Hum Mol Genet (2013) 1.26
Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells. Am J Hum Genet (2003) 1.24
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest (2014) 1.24
Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus. Nat Struct Mol Biol (2010) 1.24
Detection of fetal structural abnormalities with US during early pregnancy. Radiographics (2004) 1.23
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. Am J Hum Genet (2012) 1.22
From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders. Am J Med Genet A (2011) 1.21
Oligodendrogliomas result from the expression of an activated mutant epidermal growth factor receptor in a RAS transgenic mouse astrocytoma model. Cancer Res (2003) 1.20
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology (2010) 1.20
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology (2013) 1.19
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. Am J Med Genet A (2003) 1.18
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nat Genet (2013) 1.18
Fetal cardiomyopathies: pathogenic mechanisms, hemodynamic findings, and clinical outcome. Circulation (2002) 1.18
Hypoglycemic seizures during transient hypoglycemia exacerbate hippocampal dysfunction. Neurobiol Dis (2007) 1.16
Maternal luteoma of pregnancy presenting with virilization of the female infant. J Obstet Gynaecol Can (2007) 1.12
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Hum Mutat (2005) 1.11
Fetal cardiac tumors: a single-center experience of 40 cases. Prenat Diagn (2010) 1.11
Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome. Am J Med Genet A (2011) 1.11
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet (2013) 1.11
Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13). Genome Res (2008) 1.10
Antagonism between GLD-2 binding partners controls gamete sex. Dev Cell (2009) 1.10
Descending vasomotor pathways in humans: correlation between axonal preservation and cardiovascular dysfunction after spinal cord injury. J Neurotrauma (2003) 1.08
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta. Genet Med (2012) 1.08
Clinical and genetic aspects of trigonocephaly: a study of 25 cases. Am J Med Genet A (2003) 1.06
Peptidyl argininedeiminase 2 CpG island in multiple sclerosis white matter is hypomethylated. J Neurosci Res (2007) 1.06
Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? Am J Med Genet A (2006) 1.06
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron (2013) 1.06
Fetal hepatic calcifications: prenatal diagnosis and outcome. Am J Obstet Gynecol (2002) 1.06
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat (2011) 1.06
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
First trimester ultrasound diagnosis of lethal multiple pterygium syndrome. Fetal Diagn Ther (2006) 1.05
Glioblastoma multiforme after stereotactic radiotherapy for acoustic neuroma: case report and review of the literature. Neuro Oncol (2007) 1.04
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. Am J Hum Genet (2013) 1.04
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. J Med Genet (2010) 1.02
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. Am J Hum Genet (2012) 1.02
Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development. Radiographics (2006) 1.01
Ataxia and pancytopenia caused by a mutation in TINF2. Hum Genet (2008) 1.00
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Mol Genet Metab (2013) 1.00
Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases. Am J Med Genet A (2008) 0.99
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome. Am J Med Genet A (2012) 0.98
Impact of prenatal risk factors on congenital heart disease in the current era. J Am Heart Assoc (2013) 0.97
Hypospadias in males with intrauterine growth restriction due to placental insufficiency: the placental role in the embryogenesis of male external genitalia. Am J Med Genet A (2010) 0.96
Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome. Mol Genet Genomics (2006) 0.95
Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1. BMC Med Genet (2014) 0.95
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. J Med Genet (2013) 0.94