PubRank

Pedro A Sanchez-Lara

Author PubWeight™ 24.76‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet 2006 3.55
2 A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet 2012 2.12
3 Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain 2012 1.69
4 Modulation of noncanonical TGF-β signaling prevents cleft palate in Tgfbr2 mutant mice. J Clin Invest 2012 1.37
5 Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A 2007 1.16
6 Transforming growth factor-beta regulates basal transcriptional regulatory machinery to control cell proliferation and differentiation in cranial neural crest-derived osteoprogenitor cells. J Biol Chem 2009 1.14
7 Fibroblast growth factor 9 (FGF9)-pituitary homeobox 2 (PITX2) pathway mediates transforming growth factor β (TGFβ) signaling to regulate cell proliferation in palatal mesenchyme during mouse palatogenesis. J Biol Chem 2011 1.10
8 Investigation of NRXN1 deletions: clinical and molecular characterization. Am J Med Genet A 2013 1.06
9 Smad4-Irf6 genetic interaction and TGFβ-mediated IRF6 signaling cascade are crucial for palatal fusion in mice. Development 2013 1.03
10 The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet A 2012 1.00
11 Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature. BMC Med Genet 2012 0.96
12 Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate. Am J Med Genet A 2011 0.94
13 ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. Hum Mutat 2012 0.87
14 Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases. Mol Genet Metab 2008 0.84
15 Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians. Am J Med Genet A 2014 0.82
16 Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder. Mol Genet Metab 2010 0.81
17 TGFβ regulates epithelial-mesenchymal interactions through WNT signaling activity to control muscle development in the soft palate. Development 2014 0.81
18 Extrinsic factors influencing fetal deformations and intrauterine growth restriction. J Pregnancy 2012 0.80
19 Modulation of lipid metabolic defects rescues cleft palate in Tgfbr2 mutant mice. Hum Mol Genet 2013 0.80
20 Hypertrophic scarring in cleft lip repair: a comparison of incidence among ethnic groups. Clin Epidemiol 2012 0.79
21 A model for interprofessional health care: lessons learned from craniofacial teams. J Calif Dent Assoc 2014 0.78
22 Neonatal and infant mandibular distraction as an alternative to tracheostomy in severe obstructive sleep apnea. Cleft Palate Craniofac J 2010 0.78
23 Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature. Cleft Palate Craniofac J 2016 0.77
24 An unusual accessory mandible and a submucosal cleft palate-a case report and review of the literature. Cleft Palate Craniofac J 2012 0.75
25 A study of 534 fetal pathology cases from prenatal diagnosis referrals analyzed from 1989 through 2000. Am J Med Genet A 2007 0.75
26 The Prevalence of Congenital Heart Disease in Nonsyndromic Cleft Lip and/or Palate: A Systematic Review of the Literature. Ann Plast Surg 2017 0.75
27 Bilateral maxillary duplication: case report and literature review. Oral Surg Oral Med Oral Pathol Oral Radiol 2011 0.75
28 Proteus Syndrome With a Cranial Intraosseous Lipoma. J Craniofac Surg 2017 0.75