Daryl A Scott

Summary

Affiliation: Texas Medical Center
Country: USA

Publications

  1. ncbi request reprint Genetics of congenital diaphragmatic hernia
    Daryl A Scott
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Semin Pediatr Surg 16:88-93. 2007
  2. ncbi request reprint Congenital diaphragmatic hernia in WAGR syndrome
    D A Scott
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 134:430-3. 2005
  3. pmc Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3
    Tyler F Beck
    Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS ONE 8:e58830. 2013
  4. pmc Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
    Marwan Shinawi
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, Texas 77030, USA
    J Med Genet 47:332-41. 2010
  5. pmc Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice
    Tyler F Beck
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 22:1026-38. 2013
  6. pmc An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions
    Bum Jun Kim
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS ONE 8:e57460. 2013
  7. pmc Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1
    Margaret J Wat
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 21:4115-25. 2012
  8. pmc Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization
    Svetlana A Yatsenko
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX 77030, USA
    Hum Genet 131:1895-910. 2012
  9. pmc Phenotypic manifestations of copy number variation in chromosome 16p13.11
    Sandesh C Sreenath Nagamani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Eur J Hum Genet 19:280-6. 2011
  10. pmc NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits
    Piotr Dittwald
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genome Res 23:1395-409. 2013

Research Grants

Collaborators

Detail Information

Publications25

  1. ncbi request reprint Genetics of congenital diaphragmatic hernia
    Daryl A Scott
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Semin Pediatr Surg 16:88-93. 2007
    ..We also provide practical information that can aid physicians and surgeons as they evaluate and care for patients with isolated, nonisolated, and syndromic forms of CDH and their families...
  2. ncbi request reprint Congenital diaphragmatic hernia in WAGR syndrome
    D A Scott
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 134:430-3. 2005
    ..These cases demonstrate that congenital diaphragmatic hernia can be associated with WAGR syndrome and suggest that deletions of WT1 may predispose individuals to develop congenital diaphragmatic hernia...
  3. pmc Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3
    Tyler F Beck
    Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS ONE 8:e58830. 2013
    ....
  4. pmc Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
    Marwan Shinawi
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, Texas 77030, USA
    J Med Genet 47:332-41. 2010
    ..Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay...
  5. pmc Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice
    Tyler F Beck
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 22:1026-38. 2013
    ..We conclude that FREM1 plays a critical role in the development of the diaphragm and that FREM1 deficiency can cause CDH in both humans and mice...
  6. pmc An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions
    Bum Jun Kim
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS ONE 8:e57460. 2013
    ....
  7. pmc Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1
    Margaret J Wat
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 21:4115-25. 2012
    ..We conclude that haploinsufficiency of Sox7 or Gata4 is sufficient to produce anterior CDH in mice and that haploinsufficiency of SOX7 and GATA4 may each contribute to the development of CDH in individuals with 8p23.1 deletions...
  8. pmc Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization
    Svetlana A Yatsenko
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX 77030, USA
    Hum Genet 131:1895-910. 2012
    ..The end-replication challenges of subtelomeric genomic intervals may make them particularly prone to rearrangements generated by errors in DNA replication...
  9. pmc Phenotypic manifestations of copy number variation in chromosome 16p13.11
    Sandesh C Sreenath Nagamani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Eur J Hum Genet 19:280-6. 2011
    ..Our findings expand the repertoire of clinical features observed in patients with CNV in 16p13.11 and strengthen the hypothesis that this is a dosage sensitive region with clinical relevance...
  10. pmc NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits
    Piotr Dittwald
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genome Res 23:1395-409. 2013
    ..2q13, were elucidated in association with novel genomic disorders. Our study quantitates genome architectural features responsible for NAHR-mediated genomic instability and further elucidates the role of NAHR in human disease. ..
  11. pmc Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia
    Margaret J Wat
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Med Genet 48:299-307. 2011
    ..Congenital diaphragmatic hernia (CDH) is a life threatening birth defect. Most of the genetic factors that contribute to the development of CDH remain unidentified...
  12. ncbi request reprint Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome
    Silke Schlaubitz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 143:1071-81. 2007
    ..This suggests that the locus 9q33-9q34 can be excluded for GPS and that the presented case is unique in its combination of GPS and NPS features caused by a microdeletion associated with loss of function of LMX1B and NR5A1...
  13. ncbi request reprint WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH
    P A Lennon
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77021, USA
    Am J Med Genet A 140:1214-8. 2006
    ....
  14. doi request reprint Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25
    Christian B Ricks
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 152:453-8. 2010
    ....
  15. pmc Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia
    Margaret J Wat
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 149:1661-77. 2009
    ..1 deletions. These findings also underscore the importance of conducting a careful cytogenetic/molecular analysis of the 8p23.1 region in all prenatal and postnatal cases involving congenital defects of the heart and/or diaphragm...
  16. ncbi request reprint Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance
    Ashley M Holder
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 143:2576-80. 2007
    ..It is important that parents of children with Fine-Lubinsky be informed of the increased recurrence risk associated with that type of inheritance...
  17. ncbi request reprint Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics
    Sau W Cheung
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Am J Med Genet A 143:1679-86. 2007
    ..This suggests that aCGH may detect somatic chromosomal mosaicism that would be missed by conventional cytogenetics...
  18. pmc Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36
    Hitisha P Zaveri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS ONE 9:e85600. 2014
    ....
  19. ncbi request reprint Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia
    Daryl A Scott
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Hum Mol Genet 16:424-30. 2007
    ..This method is more sensitive than G-banded chromosome analysis and may find wide application in screening patients with congenital anomalies...
  20. pmc Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia
    Margaret J Wat
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Med Genet 47:777-81. 2010
    ..Congenital diaphragmatic hernia (CDH) can occur in isolation or in association with other abnormalities. We hypothesised that some cases of non-isolated CDH are caused by novel genomic disorders...
  21. pmc A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder
    Jaime M Williams
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 149:1758-62. 2009
    ....
  22. pmc Mouse model reveals the role of RERE in cerebellar foliation and the migration and maturation of Purkinje cells
    Bum Jun Kim
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS ONE 9:e87518. 2014
    ....
  23. doi request reprint Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22
    Elliott G Richards
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 155:1729-34. 2011
    ..It is likely that one or more of these five genes, alone or in combination, plays an important, yet previously uncharacterized, role in cardiac development...
  24. pmc Genetic factors in congenital diaphragmatic hernia
    A M Holder
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Am J Hum Genet 80:825-45. 2007
    ....
  25. pmc De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia
    Smita M Purandare
    Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104, USA
    Am J Med Genet A 146:453-8. 2008
    ..Further studies might unravel a new regulatory element for RUNX2...

Research Grants3

  1. Molecular Genetics of Congenital Diaphragmatic Hernia
    Daryl Scott; Fiscal Year: 2007
    ..Identifying and characterizing the genes that cause CDH may lead to the development of new preventative and therapeutic strategies, and will provide insight into the molecular basis of diaphragm development. ..
  2. Retinoid-Related Genes in Diaphragm and Cardiac Development
    Daryl A Scott; Fiscal Year: 2010
    ..This knowledge may lead to the development of new ways to diagnose, prevent or treat these birth defects. ..