CHARGE syndrome: an update.

CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature (2010) 2.88

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am J Med Genet A (2010) 1.82

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clin Genet (2008) 1.56

Cranial neural crest cells on the move: their roles in craniofacial development. Am J Med Genet A (2010) 1.55

Kallmann syndrome. Eur J Hum Genet (2008) 1.47

Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. Hum Mol Genet (2009) 1.26

Human ESC-derived neural crest model reveals a key role for SOX2 in sensory neurogenesis. Cell Stem Cell (2011) 1.16

Ocular coloboma and dorsoventral neuroretinal patterning defects in Lrp6 mutant eyes. Dev Dyn (2008) 1.05

Congenital hypoplasia of the cerebellum: developmental causes and behavioral consequences. Front Neuroanat (2013) 1.02

Kismet/CHD7 regulates axon morphology, memory and locomotion in a Drosophila model of CHARGE syndrome. Hum Mol Genet (2010) 1.00

Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome. Elife (2013) 1.00

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions. J Clin Invest (2010) 0.99

A constant light-genetic screen identifies KISMET as a regulator of circadian photoresponses. PLoS Genet (2009) 0.98

Chromodomain proteins in development: lessons from CHARGE syndrome. Clin Genet (2010) 0.95

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. Genet Med (2011) 0.94

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance. Hum Genet (2014) 0.93

Identification of novel regulators of atonal expression in the developing Drosophila retina. Genetics (2008) 0.92

Mutations in ARID2 are associated with intellectual disabilities. Neurogenetics (2015) 0.91

CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. PLoS One (2011) 0.91

Successful airway management with use of a laryngeal mask airway in a patient with CHARGE syndrome. J Anesth (2009) 0.88

CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome. Hum Mol Genet (2013) 0.87

CHD7 interacts with BMP R-SMADs to epigenetically regulate cardiogenesis in mice. Hum Mol Genet (2013) 0.84

The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Mol Cell Endocrinol (2011) 0.83

Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers. J Neurodev Disord (2014) 0.82

CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia. Otol Neurotol (2014) 0.81

Kismet positively regulates glutamate receptor localization and synaptic transmission at the Drosophila neuromuscular junction. PLoS One (2014) 0.80

De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux. J Hum Genet (2016) 0.80

Modeling congenital disease and inborn errors of development in Drosophila melanogaster. Dis Model Mech (2016) 0.79

Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex. J Child Neurol (2015) 0.79

Cloning and characterization of a novel alternatively spliced transcript of the human CHD7 putative helicase. BMC Res Notes (2010) 0.79

Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. Hum Mol Genet (2015) 0.79

Unique phenotype in a patient with CHARGE syndrome. Int J Pediatr Endocrinol (2011) 0.78

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. Proc Natl Acad Sci U S A (2014) 0.78

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss. Sci Rep (2016) 0.77

Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics. J Dev Phys Disabil (2009) 0.77

Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome. Ann Lab Med (2014) 0.77

Clinical and genetic characteristics for the Urofacial Syndrome (UFS). Int J Clin Exp Pathol (2014) 0.76

Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review. Pediatr Surg Int (2008) 0.76

Syndromic deafness-prevalence, distribution and hearing management protocol in Indian scenario. Ann Med Surg (Lond) (2015) 0.75

Progressing subglottic and tracheobronchial stenosis in a patient with CHARGE syndrome diagnosed in adulthood. Respir Med Case Rep (2014) 0.75

Radiologic and Audiologic Findings in the Temporal Bone of Patients with CHARGE Syndrome. Ochsner J (2016) 0.75

Conservative management of bilateral choanal atresia? Bilateral choanal atresia diagnosed in a 5-year-old girl. BMJ Case Rep (2014) 0.75

Suprasellar choristoma associated with congenital hydrocephalus, anophthalmia, cleft lip and palate, and clinodactly: a proposed variant of a unique new syndrome. Radiol Case Rep (2015) 0.75

Outcomes of long-term audiological rehabilitation in charge syndrome. Acta Otorhinolaryngol Ital (2016) 0.75

Symmetrical Chorioretinal Colobomata with Craniovertebral Junction Anomalies in CHARGE Syndrome - A Case Report with Review of Literature. J Clin Imaging Sci (2014) 0.75

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome. Cell Death Differ (2016) 0.75

Clinical utility gene card for: CHARGE syndrome. Eur J Hum Genet (2011) 0.75

A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome. Hum Genome Var (2016) 0.75

Unilateral ectopic parotid gland in CHARGE syndrome. Pediatr Radiol (2012) 0.75

Visual electrophysiological findings in CHARGE syndrome with bilateral colobomas: a case report. Doc Ophthalmol (2010) 0.75

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52

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

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

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

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

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

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

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

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

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry (2009) 1.32

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol (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

Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A (2007) 1.22

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology (2009) 1.19

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A (2007) 1.18

Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A (2005) 1.17

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet (2009) 1.15

Familial abdominal aortic aneurysms: collection of 233 multiplex families. J Vasc Surg (2003) 1.12

Nicolaides-Baraitser syndrome: Delineation of the phenotype. Am J Med Genet A (2009) 1.11

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). Eur J Pediatr (2003) 1.11

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. Pediatrics (2007) 1.11

Craniosynostosis: A rare complication of pycnodysostosis. Eur J Med Genet (2010) 1.10

Cardio-facio-cutaneous syndrome: does genotype predict phenotype? Am J Med Genet C Semin Med Genet (2011) 1.08

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat (2010) 1.08

Microcephaly. Handb Clin Neurol (2013) 1.05

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients. Eur J Med Genet (2010) 1.04

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series. Eur J Med Genet (2009) 1.02

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. Eur J Hum Genet (2009) 1.01

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. Hum Mol Genet (2003) 0.99

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review. Am J Med Genet A (2009) 0.98

The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement. Eur J Med Genet (2008) 0.98

The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). Hum Genet (2010) 0.97

Clinical utility gene card for: Rothmund-Thomson syndrome. Eur J Hum Genet (2012) 0.96

CEMARA: a Web dynamic application within a N-tier architecture for rare diseases. Stud Health Technol Inform (2008) 0.96

Dysmorphology and the orbital region: a practical clinical approach. Surv Ophthalmol (2004) 0.95

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother. Eur J Hum Genet (2012) 0.94

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Am J Med Genet A (2014) 0.94

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. Eur J Hum Genet (2005) 0.94

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. J Hum Genet (2005) 0.93

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. Am J Med Genet A (2013) 0.93

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat (2012) 0.93

Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. PLoS One (2012) 0.93

CEMARA an information system for rare diseases. Stud Health Technol Inform (2010) 0.90

Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals. Clin Dysmorphol (2003) 0.90

Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome. Mol Cell Endocrinol (2006) 0.89

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia. Eur J Hum Genet (2011) 0.89

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? Am J Med Genet A (2005) 0.89

Spectrum of epilepsy in terminal 1p36 deletion syndrome. Epilepsia (2007) 0.89

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies. Eur J Hum Genet (2012) 0.88

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia. Am J Med Genet A (2012) 0.88

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome. Eur J Hum Genet (2005) 0.88

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. Am J Med Genet A (2007) 0.88

Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis. Am J Med Genet A (2005) 0.86

Temple-Baraitser syndrome: a rare and possibly unrecognized condition. Am J Med Genet A (2010) 0.86

Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome. Am J Med Genet A (2010) 0.86

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. Eur J Med Genet (2010) 0.85

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet (2013) 0.85

Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene. Am J Med Genet A (2012) 0.85

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. Am J Hum Genet (2010) 0.84

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. J Hum Genet (2008) 0.83

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome. J Med Genet (2010) 0.83

A familial syndromal form of omphalocele. Eur J Med Genet (2011) 0.83

Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. Nat Genet (2015) 0.82

Aphallia, lung agenesis and multiple defects of blastogenesis. Fetal Pediatr Pathol (2011) 0.82

The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients. Eur J Cancer (2013) 0.82

De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability. Am J Med Genet A (2014) 0.82

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. Hum Mutat (2014) 0.81

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region. Eur J Hum Genet (2006) 0.81

Clinical utility gene card for: WAGR syndrome. Eur J Hum Genet (2011) 0.81

VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling. J Clin Invest (2011) 0.81

Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation. Am J Med Genet A (2014) 0.80

A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone. J Clin Endocrinol Metab (2004) 0.80

MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation. Am J Med Genet A (2003) 0.80

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome. Am J Med Genet A (2008) 0.79

Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia. Eur J Hum Genet (2008) 0.79

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins. Am J Med Genet A (2005) 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

Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10. Am J Med Genet A (2014) 0.78

Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome. Mol Autism (2013) 0.78

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review. Am J Med Genet A (2003) 0.78

Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course. Am J Med Genet A (2009) 0.78

A long-term competent chimeric immune system in a dizygotic dichorionic twin. Pediatrics (2011) 0.77