Juan-Pedro Martinez-Barbera

Author PubWeight™ 7.95‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. Am J Hum Genet 2005 1.29
2 Adrenal development is initiated by Cited2 and Wt1 through modulation of Sf-1 dosage. Development 2007 1.19
3 Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes. Hum Mol Genet 2009 1.02
4 Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction. J Clin Endocrinol Metab 2011 1.02
5 Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia. J Clin Endocrinol Metab 2013 1.01
6 The paired-type homeobox gene Dmbx1 marks the midbrain and pretectum. Mech Dev 2002 0.89
7 ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. Brain 2013 0.84
8 The future of genomic endocrinology. Front Endocrinol (Lausanne) 2011 0.75