M. Arcos-Burgos

Publications182
h-index46
Citations8,899
Highly Influential Citations431
Claim Author Page
Author pages are created from data sourced from our academic publisher partnerships and public sources.

Recommended Authors

  • S. Faraone
  • 1,551 Publications • 138,499 Citations
  • F. Lopera
  • 256 Publications • 9,535 Citations
  • J. Biederman
  • 1,146 Publications • 120,971 Citations
  • J. Murray
  • 694 Publications • 40,450 Citations
  • Publications
  • Influence
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
TLDR
It is demonstrated that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia.
View on Nature
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
TLDR
Replication studies from several populations showed confirming evidence, with families of European ancestry giving strong evidence for markers in 8q24, whereas Asian families showed stronger evidence for association with MAFB and ABCA4, and expression studies support a role for MAFBs in palatal development.
View on Nature
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.
TLDR
DNA-sequence variants associated with IRF6 are major contributors to cleft lip, with or without cleft palate; moreover, the results for some individual populations from South America and Asia were highly significant.
View on PubMed
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
TLDR
An HLA-DQA1 allele on chromosome 6p21 is most closely associated with idiopathic membranous nephropathy in persons of white ancestry and may facilitate an autoimmune response against targets such as variants of PLA2R1.
View on PubMed
Support for association between ADHD and two candidate genes: NET1 and DRD1
TLDR
Support is provided for an association between ADHD and polymorphisms in both NET1 and DRD1; polymorphismsIn ten other candidate genes were not associated with ADHD.
View on Wiley
A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication.
TLDR
Functional studies revealed that LPHN3 variants are expressed in key brain regions related to attention and activity, affect metabolism in neural circuits implicated in ADHD, and are associated with response to stimulant medication.
View on PubMed
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
BACKGROUND Five children from two consanguineous families presented with epilepsy beginning in infancy and severe ataxia, moderate sensorineural deafness, and a renal salt-losing tubulopathy with…
View on PubMed
Attention-deficit/hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11.
TLDR
The concordance between results from different analytical methods of linkage and the replication of data between two independent studies suggest that these loci truly harbor ADHD susceptibility genes.
View on PubMed
Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation.
View on PubMed
Young adult outcomes in the follow‐up of the multimodal treatment study of attention‐deficit/hyperactivity disorder: symptom persistence, source discrepancy, and height suppression
TLDR
In the MTA follow-up into adulthood, the ADHD group showed symptom persistence compared to local norms from the LNCG, and within naturalistic subgroups of ADHD cases, extended use of medication was associated with suppression of adult height but not with reduction of symptom severity.
View on Wolters Kluwer
...
...