Published in Am J Med Genet A on August 17, 2012
Yap and Taz play a crucial role in neural crest-derived craniofacial development. Development (2015) 0.81
Monogenic causes of stroke: now and the future. J Neurol (2015) 0.81
Genetic insights into the functional elements of language. Hum Genet (2013) 0.80
Molecular characterization of a novel ring 6 chromosome using next generation sequencing. Mol Cytogenet (2016) 0.78
Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome. Mol Cytogenet (2017) 0.75
Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs. J Neurodev Disord (2016) 0.75
Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms. Elife (2017) 0.75
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
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
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
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
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
Systemic inflammation disrupts the developmental program of white matter. Ann Neurol (2011) 2.20
CHARGE syndrome: an update. Eur J Hum Genet (2007) 2.03
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet (2009) 2.03
Specific genetic disorders and autism: clinical contribution towards their identification. J Autism Dev Disord (2005) 2.03
The Jak/STAT pathway is involved in synaptic plasticity. Neuron (2012) 2.02
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
Inflammation during fetal and neonatal life: implications for neurologic and neuropsychiatric disease in children and adults. Ann Neurol (2012) 1.92
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
Modulation of erythroid adhesion receptor expression by hydroxyurea in children with sickle cell disease. Haematologica (2008) 1.87
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
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet (2006) 1.69
Characterization of phenotype markers and neuronotoxic potential of polarised primary microglia in vitro. Brain Behav Immun (2013) 1.66
Neurologic manifestations of pediatric chikungunya infection. J Child Neurol (2008) 1.66
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
Association between Duffy antigen receptor for chemokines expression and levels of inflammation markers in sickle cell anemia patients. Clin Immunol (2010) 1.58
Association of UGT1A1 polymorphism with prevalence and age at onset of cholelithiasis in sickle cell anemia. Haematologica (2005) 1.58
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
Pharmacokinetics of melatonin in preterm infants. Br J Clin Pharmacol (2013) 1.48
Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease. Am J Med Genet A (2013) 1.46
Orofaciodigital syndrome with cerebral dysgenesis. Am J Med Genet A (2006) 1.45
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet (2012) 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
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
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet (2012) 1.41
Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. Am J Med Genet A (2004) 1.39
The yin and yang of microglia. Dev Neurosci (2011) 1.38
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet (2012) 1.36
Obesity leads to higher risk of sperm DNA damage in infertile patients. Asian J Androl (2013) 1.34
Mother-to-child transmission of Chikungunya virus infection. Pediatr Infect Dis J (2007) 1.33
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet (2013) 1.33
Neuronal damage accompanies perinatal white-matter damage. Trends Neurosci (2007) 1.32
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
AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Am J Hum Genet (2004) 1.30
Breakpoint-specific multiplex polymerase chain reaction allows the detection of IKZF1 intragenic deletions and minimal residual disease monitoring in B-cell precursor acute lymphoblastic leukemia. Haematologica (2012) 1.28
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet (2005) 1.28
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. Eur J Hum Genet (2007) 1.26
Melatonin augments hypothermic neuroprotection in a perinatal asphyxia model. Brain (2012) 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
Melatonin reduces inflammation and cell death in white matter in the mid-gestation fetal sheep following umbilical cord occlusion. Pediatr Res (2007) 1.23
Frequency of pain crises in sickle cell anemia and its relationship with the sympatho-vagal balance, blood viscosity and inflammation. Haematologica (2011) 1.23
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
Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations. Hum Mol Genet (2006) 1.21
Neonatal encephalopathy or hypoxic-ischemic encephalopathy? Appropriate terminology matters. Pediatr Res (2011) 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
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
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
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
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
Dexmedetomidine increases hippocampal phosphorylated extracellular signal-regulated protein kinase 1 and 2 content by an alpha 2-adrenoceptor-independent mechanism: evidence for the involvement of imidazoline I1 receptors. Anesthesiology (2008) 1.12
The role of JAK-STAT signaling within the CNS. JAKSTAT (2013) 1.12
Identification of CANT1 mutations in Desbuquois dysplasia. Am J Hum Genet (2009) 1.12
Activation of microglial N-methyl-D-aspartate receptors triggers inflammation and neuronal cell death in the developing and mature brain. Ann Neurol (2012) 1.12
Familial abdominal aortic aneurysms: collection of 233 multiplex families. J Vasc Surg (2003) 1.12
Maternal exposure to LPS induces hypomyelination in the internal capsule and programmed cell death in the deep gray matter in newborn rats. Pediatr Res (2006) 1.11
Tertiary mechanisms of brain damage: a new hope for treatment of cerebral palsy? Lancet Neurol (2012) 1.11
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