Published in Cytogenet Genome Res on November 15, 2014
Developmental neurogenetics and multimodal neuroimaging of sex differences in autism. Brain Imaging Behav (2016) 0.77
Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil. Mol Syndromol (2017) 0.75
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet (2007) 4.63
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet (2003) 3.96
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
Endoscopic laser surgery versus serial amnioreduction for severe twin-to-twin transfusion syndrome. N Engl J Med (2004) 2.80
Human neural tube defects: developmental biology, epidemiology, and genetics. Neurotoxicol Teratol (2005) 2.62
Analgesic effect of breast feeding in term neonates: randomised controlled trial. BMJ (2003) 2.46
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet (2011) 2.04
Combined screening for open spina bifida at 11-13 weeks using fetal biparietal diameter and maternal serum markers. Am J Obstet Gynecol (2013) 1.99
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat (2007) 1.93
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet (2007) 1.86
Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science (2002) 1.80
Prospective identification of congenital cytomegalovirus infection in newborns using real-time polymerase chain reaction assays in dried blood spots. Clin Infect Dis (2011) 1.66
Long-chain fatty acid oxidation during early human development. Pediatr Res (2005) 1.62
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62
Placental perfusion and permeability: simultaneous assessment with dual-echo contrast-enhanced MR imaging in mice. Radiology (2006) 1.60
Complete surgery for low rectal endometriosis: long-term results of a 100-case prospective study. Ann Surg (2010) 1.60
Germline gain-of-function mutations of ALK disrupt central nervous system development. Hum Mutat (2011) 1.54
PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. J Clin Endocrinol Metab (2004) 1.53
Measurement of acute pelvic pain intensity in gynecology: a comparison of five methods. Obstet Gynecol (2009) 1.51
Long-term developmental follow-up of infants who participated in a randomized clinical trial of amniocentesis vs laser photocoagulation for the treatment of twin-to-twin transfusion syndrome. Am J Obstet Gynecol (2010) 1.51
Prediction of fetal infection in cases with cytomegalovirus immunoglobulin M in the first trimester of pregnancy: a retrospective cohort. Clin Infect Dis (2013) 1.51
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat (2009) 1.48
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. Eur J Med Genet (2011) 1.48
Incidence of growth hormone deficiency in pediatric-onset Langerhans cell histiocytosis: efficacy and safety of growth hormone treatment. J Clin Endocrinol Metab (2004) 1.46
Prediction of the date of delivery based on first trimester ultrasound measurements: an independent method from estimated date of conception. J Matern Fetal Neonatal Med (2010) 1.46
Repeat measurement of cervical length after successful tocolysis. Obstet Gynecol (2004) 1.44
The place of 'social sexing' in medicine and science. Hum Reprod (2002) 1.44
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. Am J Med Genet A (2009) 1.44
Screening for fetal spina bifida by ultrasound examination in the first trimester of pregnancy using fetal biparietal diameter. Am J Obstet Gynecol (2012) 1.43
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet (2005) 1.43
Neonatal outcome in preterm monochorionic twins with twin-to-twin transfusion syndrome after intrauterine treatment with amnioreduction or fetoscopic laser surgery: comparison with dichorionic twins. Am J Obstet Gynecol (2007) 1.41
22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. Am J Med Genet A (2005) 1.40
Management of Graves' disease during pregnancy: the key role of fetal thyroid gland monitoring. J Clin Endocrinol Metab (2005) 1.40
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet (2012) 1.40
TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet (2012) 1.29
Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood. Pediatrics (2008) 1.29
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. Hum Mutat (2009) 1.28
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet (2006) 1.24
Human neural crest cells display molecular and phenotypic hallmarks of stem cells. Hum Mol Genet (2008) 1.23
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Hum Mutat (2014) 1.21
Congenital cerebral malformations and dysfunction in fetuses and newborns following the 2013 to 2014 Zika virus epidemic in French Polynesia. Euro Surveill (2016) 1.21
Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study. Clin Endocrinol (Oxf) (2005) 1.20
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet (2008) 1.19
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet (2010) 1.18
Central diabetes insipidus as the inaugural manifestation of Langerhans cell histiocytosis: natural history and medical evaluation of 26 children and adolescents. J Clin Endocrinol Metab (2011) 1.18
Gene expression in pharyngeal arch 1 during human embryonic development. Hum Mol Genet (2005) 1.16
Functional disomy of the Xq28 chromosome region. Eur J Hum Genet (2005) 1.15
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. J Med Genet (2009) 1.14
Microcephaly: a radiological review. Pediatr Radiol (2009) 1.14
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet (2004) 1.13
Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab (2002) 1.12
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J Hum Genet (2006) 1.11
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant? Eur J Med Genet (2010) 1.08
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties. Eur J Hum Genet (2005) 1.07
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet (2013) 1.06
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat (2011) 1.06
An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet (2004) 1.06
Treatment and prevention of malaria in pregnancy and newborn. J Perinat Med (2008) 1.05
Microstructural development of human brain assessed in utero by diffusion tensor imaging. Pediatr Radiol (2006) 1.04
Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2. Am J Med Genet A (2007) 1.03
Fetal intestinal obstruction induces alteration of enteric nervous system development in human intestinal atresia. Pediatr Res (2004) 1.02
Guidelines for the management of spontaneous preterm labor: identification of spontaneous preterm labor, diagnosis of preterm premature rupture of membranes, and preventive tools for preterm birth. J Matern Fetal Neonatal Med (2011) 1.02
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. Hum Mutat (2007) 1.01
ISL1 directly regulates FGF10 transcription during human cardiac outflow formation. PLoS One (2012) 1.01
Intrachromosomal insertion mimicking a pericentric inversion: molecular cytogenetic characterization of a three break rearrangement of chromosome 20. Am J Med Genet A (2005) 1.00
Cytomegalovirus (CMV) glycoprotein B genotype and CMV DNA load in the amniotic fluid of infected fetuses. Prenat Diagn (2004) 0.99
Placental perfusion MR imaging with contrast agents in a mouse model. Radiology (2005) 0.98
Postnatal clinical and imaging follow-up of infants with prenatal isolated mild ventriculomegaly: a series of 101 cases. Pediatr Radiol (2007) 0.98
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. Gastroenterology (2011) 0.97
Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis? Mol Genet Metab (2010) 0.97
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). Hum Mol Genet (2003) 0.97
Human cytomegalovirus UL144 gene polymorphisms in congenital infections. J Clin Microbiol (2005) 0.97
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet J Rare Dis (2012) 0.97
PAX2 mutations in fetal renal hypodysplasia. Am J Med Genet A (2010) 0.96
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. J Med Genet (2012) 0.96
Phenotypic variability in children with growth hormone deficiency associated with posterior pituitary ectopia. Clin Endocrinol (Oxf) (2006) 0.96
Is fetal gender a risk factor for severe congenital cytomegalovirus infection? Prenat Diagn (2005) 0.95
Thyroid abnormalities by ultrasonography in neonates with congenital hypothyroidism. J Pediatr (2003) 0.95
Intertwin anastomoses in monochorionic placentas after fetoscopic laser coagulation for twin-to-twin transfusion syndrome: is there more than meets the eye? Am J Obstet Gynecol (2006) 0.95
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition. Eur J Hum Genet (2009) 0.94
A 23-year-old woman with Down syndrome, type 1 neurofibromatosis, and breast carcinoma. Am J Med Genet A (2004) 0.92
Determinants of non-vaccination against pandemic 2009 H1N1 influenza in pregnant women: a prospective cohort study. PLoS One (2011) 0.92