Published in Am J Med Genet A on September 15, 2005
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
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
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet (2009) 2.03
CHARGE syndrome: an update. Eur J Hum Genet (2007) 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
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
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nat Genet (2005) 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
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
Ultrasonographic cervical length measurement is not a better predictor of preterm delivery than digital examination in a population of patients with idiopathic preterm labor. Eur J Obstet Gynecol Reprod Biol (2004) 1.47
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
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
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet (2005) 1.43
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Rep (2012) 1.43
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat (2009) 1.43
Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A (2005) 1.42
Vaginal birth after cesarean section: X-ray pelvimetry at term is informative. J Perinat Med (2006) 1.42
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet (2012) 1.41
Management of Graves' disease during pregnancy: the key role of fetal thyroid gland monitoring. J Clin Endocrinol Metab (2005) 1.40
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet (2012) 1.38
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet (2012) 1.36
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
Long-term outcome of prenatally detected posterior urethral valves: single center study of 65 cases managed by primary valve ablation. J Urol (2007) 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
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
Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A (2007) 1.22
Prevalence, timing of diagnosis and mortality of newborns with congenital heart defects: a population-based study. Heart (2012) 1.21
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients. J Clin Endocrinol Metab (2010) 1.21
Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations. Hum Mol Genet (2006) 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
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia. Hum Mutat (2009) 1.20
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet (2008) 1.19
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology (2009) 1.19
DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome. Hum Mol Genet (2009) 1.19
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. Arch Otolaryngol Head Neck Surg (2005) 1.19
Fetal and neonatal thyroid function in relation to maternal Graves' disease. Best Pract Res Clin Endocrinol Metab (2004) 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
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
Molecular characterization of early human T/NK and B-lymphoid progenitor cells in umbilical cord blood. Blood (2004) 1.17
Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A (2005) 1.17
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain (2012) 1.17
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proc Natl Acad Sci U S A (2009) 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
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
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Hum Mutat (2008) 1.14
Microcephaly: a radiological review. Pediatr Radiol (2009) 1.14
Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab (2002) 1.12
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. Am J Hum Genet (2013) 1.12
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
Glial cell-derived neurotrophic factor expression in normal human lung and congenital cystic adenomatoid malformation. Arch Pathol Lab Med (2002) 1.09
Cardio-facio-cutaneous syndrome: does genotype predict phenotype? Am J Med Genet C Semin Med Genet (2011) 1.08
Entry and distribution of microglial cells in human embryonic and fetal cerebral cortex. J Neuropathol Exp Neurol (2007) 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
Low renal mineralocorticoid receptor expression at birth contributes to partial aldosterone resistance in neonates. Endocrinology (2009) 1.07
Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat (2006) 1.06
Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system. J Am Soc Nephrol (2006) 1.06
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet (2013) 1.06
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat (2011) 1.06
Microcephaly. Handb Clin Neurol (2013) 1.05
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. Hum Genet (2002) 1.04
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients. Eur J Med Genet (2010) 1.04
Microstructural development of human brain assessed in utero by diffusion tensor imaging. Pediatr Radiol (2006) 1.04
Outcome and etiologies of fetal megacystis according to the gestational age at diagnosis. Prenat Diagn (2013) 1.03