Published in Eur J Hum Genet on January 11, 2012
A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk. Cell (2013) 2.28
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder. Eur J Hum Genet (2012) 0.93
Obesity in children with autism spectrum disorder. Harv Rev Psychiatry (2014) 0.89
Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns. Mol Genet Genomic Med (2013) 0.79
16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2. Eur J Hum Genet (2012) 0.79
SH2B1 regulation of energy balance, body weight, and glucose metabolism. World J Diabetes (2014) 0.79
Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring. PLoS One (2013) 0.78
MLPA analysis in a cohort of patients with autism. Mol Cytogenet (2017) 0.75
Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications. Mol Cytogenet (2014) 0.75
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature (2009) 9.47
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet (2005) 7.60
Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet (2007) 6.75
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res (2010) 5.50
Large, rare chromosomal deletions associated with severe early-onset obesity. Nature (2009) 5.20
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature (2010) 4.52
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet (2009) 3.33
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet (2009) 2.65
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet (2007) 2.59
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Neuronal SH2B1 is essential for controlling energy and glucose homeostasis. J Clin Invest (2007) 2.42
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. J Med Genet (2009) 2.27
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genet Med (2010) 1.64
Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. J Neurodev Disord (2010) 1.51
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The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome? Am J Med Genet A (2011) 1.25
Cognitive and behavioral characterization of 16p11.2 deletion syndrome. J Dev Behav Pediatr (2010) 1.20
Interaction of SH2-Bbeta with RET is involved in signaling of GDNF-induced neurite outgrowth. J Cell Sci (2006) 1.06
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. Am J Med Genet A (2010) 0.99
FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour. J Med Genet (2004) 0.96
Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization. Am J Med Genet A (2009) 0.95
Further characterization of the new microdeletion syndrome of 16p11.2-p12.2. Am J Med Genet A (2009) 0.94
Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation. Am J Med Genet (2002) 0.87
First prenatally diagnosed case of 16p11.2p12.1 duplication. Prenat Diagn (2008) 0.79
Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis. Am J Med Genet A (2010) 0.79
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet (2003) 15.31
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet (2006) 11.14
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Promoting social behavior with oxytocin in high-functioning autism spectrum disorders. Proc Natl Acad Sci U S A (2010) 4.02
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. Am J Hum Genet (2011) 2.71
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet (2012) 2.65
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet (2006) 2.44
WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet (2010) 2.40
Ketamine administration in depressive disorders: a systematic review and meta-analysis. Psychopharmacology (Berl) (2014) 2.37
Impaired decision making in suicide attempters. Am J Psychiatry (2005) 2.37
Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. Trends Genet (2010) 2.14
Abnormal cortical voice processing in autism. Nat Neurosci (2004) 2.11
CHARGE syndrome: an update. Eur J Hum Genet (2007) 2.03
Psychiatric and psychosocial problems in adults with normal-intelligence autism spectrum disorders. BMC Psychiatry (2009) 2.03
Specific genetic disorders and autism: clinical contribution towards their identification. J Autism Dev Disord (2005) 2.03
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet (2007) 2.02
Elements of morphology: standard terminology for the lips, mouth, and oral region. Am J Med Genet A (2009) 1.96
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet (2004) 1.94
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet (2007) 1.89
Longitudinal studies of cognition in schizophrenia: meta-analysis. Br J Psychiatry (2008) 1.89
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet (2002) 1.88
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. Nat Genet (2013) 1.87
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A (2012) 1.85
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet (2012) 1.79
Many roads lead to primary autosomal recessive microcephaly. Prog Neurobiol (2009) 1.78
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genet (2013) 1.68
ROAMER: roadmap for mental health research in Europe. Int J Methods Psychiatr Res (2014) 1.67
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet B Neuropsychiatr Genet (2007) 1.65
The mutation spectrum in RECQL4 diseases. Eur J Hum Genet (2008) 1.61
SHANK1 Deletions in Males with Autism Spectrum Disorder. Am J Hum Genet (2012) 1.59
The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. Eur J Med Genet (2008) 1.52
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. Eur J Med Genet (2011) 1.48
Orofaciodigital syndrome with cerebral dysgenesis. Am J Med Genet A (2006) 1.45
Fronto-striatal overactivation in euthymic bipolar patients during an emotional go/nogo task. Am J Psychiatry (2007) 1.45
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. Am J Med Genet A (2009) 1.44
Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13. Circulation (2004) 1.44
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat (2009) 1.43
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Rep (2012) 1.43
Clinical staging in psychiatry: a cross-cutting model of diagnosis with heuristic and practical value. Br J Psychiatry (2013) 1.43
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet (2011) 1.43
Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A (2005) 1.42
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet (2012) 1.41
Conscious and subliminal conflicts in normal subjects and patients with schizophrenia: the role of the anterior cingulate. Proc Natl Acad Sci U S A (2003) 1.36
Anxiety and depression comorbidities in irritable bowel syndrome (IBS): a systematic review and meta-analysis. Eur Arch Psychiatry Clin Neurosci (2014) 1.34
Obesity leads to higher risk of sperm DNA damage in infertile patients. Asian J Androl (2013) 1.34
Age at onset in bipolar I affective disorder: further evidence for three subgroups. Am J Psychiatry (2003) 1.33
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry (2009) 1.32
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol Autism (2013) 1.32
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol (2013) 1.31
The emerging role of SHANK genes in neuropsychiatric disorders. Dev Neurobiol (2013) 1.31
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. J Med Genet (2012) 1.30
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet (2005) 1.28
Four-factor structure of obsessive-compulsive disorder symptoms in children, adolescents, and adults. J Am Acad Child Adolesc Psychiatry (2008) 1.28
Association of the SLC1A1 glutamate transporter gene and obsessive-compulsive disorder. Am J Med Genet B Neuropsychiatr Genet (2007) 1.27
Executive dysfunctions as potential markers of familial vulnerability to bipolar disorder and schizophrenia. Psychiatry Res (2004) 1.27
Neuroimaging-based markers of bipolar disorder: evidence from two meta-analyses. J Affect Disord (2011) 1.25
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Am J Med Genet A (2006) 1.25
Progress toward treatments for synaptic defects in autism. Nat Med (2013) 1.24
Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders. Am J Med Genet B Neuropsychiatr Genet (2006) 1.24
Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A (2007) 1.22
Admixture analysis of age at first suicide attempt. J Psychiatr Res (2009) 1.20
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology (2009) 1.19