Literature DB >> 24607382

2013 William Allan Award: My multifactorial journey.

Aravinda Chakravarti1.   

Abstract

Mesh：

Year:  2014        PMID： 24607382      PMCID： PMC3951947          DOI： 10.1016/j.ajhg.2013.11.014

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  41 in total

1.  Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome.

Authors:  S Bolk; M Angrist; J Xie; M Yanagisawa; J M Silvestri; D E Weese-Mayer; A Chakravarti
Journal:  Nat Genet       Date:  1996-08       Impact factor: 38.330

2.  Identification of the cystic fibrosis gene: genetic analysis.

Authors:  B Kerem; J M Rommens; J A Buchanan; D Markiewicz; T K Cox; A Chakravarti; M Buchwald; L C Tsui
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

3.  Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.

Authors:  B Royer-Pokora; L M Kunkel; A P Monaco; S C Goff; P E Newburger; R L Baehner; F S Cole; J T Curnutte; S H Orkin
Journal:  Nature       Date:  1986 Jul 3-9       Impact factor: 49.962

4.  A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.

Authors:  M Angrist; E Kauffman; S A Slaugenhaupt; T C Matise; E G Puffenberger; S S Washington; A Lipson; D T Cass; T Reyna; D E Weeks
Journal:  Nat Genet       Date:  1993-08       Impact factor: 38.330

5.  Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.

Authors:  E G Puffenberger; E R Kauffman; S Bolk; T C Matise; S S Washington; M Angrist; J Weissenbach; K L Garver; M Mascari; R Ladda
Journal:  Hum Mol Genet       Date:  1994-08       Impact factor: 6.150

6.  A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.

Authors:  S Lyonnet; A Bolino; A Pelet; L Abel; C Nihoul-Fékété; M L Briard; V Mok-Siu; H Kaariainen; G Martucciello; M Lerone; A Puliti; Y Luo; J Weissenbach; M Devoto; A Munnich; G Romeo
Journal:  Nat Genet       Date:  1993-08       Impact factor: 38.330

7.  Mutations of the RET proto-oncogene in Hirschsprung's disease.

Authors:  P Edery; S Lyonnet; L M Mulligan; A Pelet; E Dow; L Abel; S Holder; C Nihoul-Fékété; B A Ponder; A Munnich
Journal:  Nature       Date:  1994-01-27       Impact factor: 49.962

8.  Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease.

Authors:  G Romeo; P Ronchetto; Y Luo; V Barone; M Seri; I Ceccherini; B Pasini; R Bocciardi; M Lerone; H Kääriäinen
Journal:  Nature       Date:  1994-01-27       Impact factor: 49.962

9.  Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.

Authors:  M Angrist; S Bolk; B Thiel; E G Puffenberger; R M Hofstra; C H Buys; D T Cass; A Chakravarti
Journal:  Hum Mol Genet       Date:  1995-05       Impact factor: 6.150

10.  A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.

Authors:  E G Puffenberger; K Hosoda; S S Washington; K Nakao; D deWit; M Yanagisawa; A Chakravart
Journal:  Cell       Date:  1994-12-30       Impact factor: 41.582
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  2 in total

1.  Loss of δ-catenin function in severe autism.

Authors:  Tychele N Turner; Kamal Sharma; Edwin C Oh; Yangfan P Liu; Ryan L Collins; Maria X Sosa; Dallas R Auer; Harrison Brand; Stephan J Sanders; Daniel Moreno-De-Luca; Vasyl Pihur; Teri Plona; Kristen Pike; Daniel R Soppet; Michael W Smith; Sau Wai Cheung; Christa Lese Martin; Matthew W State; Michael E Talkowski; Edwin Cook; Richard Huganir; Nicholas Katsanis; Aravinda Chakravarti
Journal:  Nature       Date:  2015-03-25       Impact factor: 49.962

2.  Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease.

Authors:  Sumantra Chatterjee; Ashish Kapoor; Jennifer A Akiyama; Dallas R Auer; Dongwon Lee; Stacey Gabriel; Courtney Berrios; Len A Pennacchio; Aravinda Chakravarti
Journal:  Cell       Date:  2016-09-29       Impact factor: 41.582
  2 in total

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