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Refinado por: Nome da Publicação: American Journal Of Human Genetics remover
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1
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

Wright, Caroline F. ; West, Ben ; Tuke, Marcus ; Jones, Samuel E. ; Patel, Kashyap ; Laver, Thomas W. ; Beaumont, Robin N. ; Tyrrell, Jessica ; Wood, Andrew R. ; Frayling, Timothy M. ; Hattersley, Andrew T. ; Weedon, Michael N.

American journal of human genetics, 2019-02, Vol.104 (2), p.275-286 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids
Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids
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Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids

Ameur, Adam ; Enroth, Stefan ; Johansson, Åsa ; Zaboli, Ghazal ; Igl, Wilmar ; Johansson, Anna C.V. ; Rivas, Manuel A. ; Daly, Mark J. ; Schmitz, Gerd ; Hicks, Andrew A. ; Meitinger, Thomas ; Feuk, Lars ; van Duijn, Cornelia ; Oostra, Ben ; Pramstaller, Peter P. ; Rudan, Igor ; Wright, Alan F. ; Wilson, James F. ; Campbell, Harry ; Gyllensten, Ulf

American journal of human genetics, 2012-05, Vol.90 (5), p.809-820 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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3
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
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De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

Sleven, Hannah ; Welsh, Seth J. ; Yu, Jing ; Churchill, Mair E.A. ; Wright, Caroline F. ; Henderson, Alex ; Horvath, Rita ; Rankin, Julia ; Vogt, Julie ; Magee, Alex ; McConnell, Vivienne ; Green, Andrew ; King, Mary D. ; Cox, Helen ; Armstrong, Linlea ; Lehman, Anna ; Nelson, Tanya N. ; Williams, Jonathan ; Clouston, Penny ; Hagman, James ; Németh, Andrea H.

American journal of human genetics, 2017-01, Vol.100 (1), p.138-150 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Estimating Odds Ratios in Genome Scans: An Approximate Conditional Likelihood Approach
Estimating Odds Ratios in Genome Scans: An Approximate Conditional Likelihood Approach
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Estimating Odds Ratios in Genome Scans: An Approximate Conditional Likelihood Approach

Ghosh, Arpita ; Zou, Fei ; Wright, Fred A.

American journal of human genetics, 2008-05, Vol.82 (5), p.1064-1074 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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5
Runs of Homozygosity in European Populations
Runs of Homozygosity in European Populations
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Runs of Homozygosity in European Populations

McQuillan, Ruth ; Leutenegger, Anne-Louise ; Abdel-Rahman, Rehab ; Franklin, Christopher S. ; Pericic, Marijana ; Barac-Lauc, Lovorka ; Smolej-Narancic, Nina ; Janicijevic, Branka ; Polasek, Ozren ; Tenesa, Albert ; MacLeod, Andrew K. ; Farrington, Susan M. ; Rudan, Pavao ; Hayward, Caroline ; Vitart, Veronique ; Rudan, Igor ; Wild, Sarah H. ; Dunlop, Malcolm G. ; Wright, Alan F. ; Campbell, Harry ; Wilson, James F.

American journal of human genetics, 2008-09, Vol.83 (3), p.359-372 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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6
The phenotypic difference discards sib-pair QTL linkage information
The phenotypic difference discards sib-pair QTL linkage information
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The phenotypic difference discards sib-pair QTL linkage information

Wright, F A

American journal of human genetics, 1997-03, Vol.60 (3), p.740-742 [Periódico revisado por pares]

United States

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7
Increased Level of Linkage Disequilibrium in Rural Compared with Urban Communities: A Factor to Consider in Association-Study Design
Increased Level of Linkage Disequilibrium in Rural Compared with Urban Communities: A Factor to Consider in Association-Study Design
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Increased Level of Linkage Disequilibrium in Rural Compared with Urban Communities: A Factor to Consider in Association-Study Design

Vitart, Veronique ; Carothers, Andrew D. ; Hayward, Caroline ; Teague, Peter ; Hastie, Nicholas D. ; Campbell, Harry ; Wright, Alan F.

American journal of human genetics, 2005-05, Vol.76 (5), p.763-772 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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8
A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa
A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa
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A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

Breuer, Debra K. ; Yashar, Beverly M. ; Filippova, Elena ; Hiriyanna, Suja ; Lyons, Robert H. ; Mears, Alan J. ; Asaye, Bersabell ; Acar, Ceren ; Vervoort, Raf ; Wright, Alan F. ; Musarella, Maria A. ; Wheeler, Patricia ; MacDonald, Ian ; Iannaccone, Alessandro ; Birch, David ; Hoffman, Dennis R. ; Fishman, Gerald A. ; Heckenlively, John R. ; Jacobson, Samuel G. ; Sieving, Paul A. ; Swaroop, Anand

American journal of human genetics, 2002-06, Vol.70 (6), p.1545-1554 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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9
Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population
Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population
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Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population

Kingdom, Rebecca ; Tuke, Marcus ; Wood, Andrew ; Beaumont, Robin N. ; Frayling, Timothy M. ; Weedon, Michael N. ; Wright, Caroline F.

American journal of human genetics, 2022-07, Vol.109 (7), p.1308-1316 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts
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Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts

Mirshahi, Uyenlinh L ; Colclough, Kevin ; Wright, Caroline F ; Wood, Andrew R ; Beaumont, Robin N ; Tyrrell, Jessica ; Laver, Thomas W ; Stahl, Richard ; Golden, Alicia ; Goehringer, Jessica M ; Frayling, Timothy F ; Hattersley, Andrew T ; Carey, David J ; Weedon, Michael N ; Patel, Kashyap A

American journal of human genetics, 2022-11, Vol.109 (11), p.2018-2028 [Periódico revisado por pares]

United States: Elsevier Inc

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Deste Autor:

  1. Ricci, E
  2. Trevisan, C
  3. Greco, F
  4. Berardinelli, A
  5. Angelini, C

Neste Assunto:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Humans
  5. Biological And Medical Sciences

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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