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Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
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Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

Aitken, Stuart ; McRae, Jeremy ; Kini, Usha ; Parker, Michael J. ; Joss, Shelagh ; Scott, Richard H. ; Hurles, Matthew E. ; FitzPatrick, David R. ; Morley, K.I. ; Al-Turki, S. ; Ambridge, K. ; Barrett, D.M. ; Bayzetinova, T. ; Krishnappa, N. ; Mason, L.E. ; Middleton, A. ; Prigmore, E. ; Tivey, A.R. ; Akawi, N. ; Andrews, R. ; Armstrong, R. ; Balasubramanian, M. ; Banerjee, R. ; Baty, D. ; Bernhard, B. ; Blair, E. ; Bourn, D. ; Brady, A. ; Brewer, C. ; Burn, J. ; Connell, F. ; Cooper, N. ; Cross, G. ; Dixit, A. ; Ellis, P. ; Fendick, T. ; Fisher, R. ; Greenhalgh, L. ; Hawkins, R. ; Hobson, E. ; Holden, S. ; Holder, S. ; Hurst, J. ; Ingram, S. ; Jarvis, J. ; Johnson, D. ; Joss, S. ; Kaemba, B. ; Kirby, G. ; Kraus, A. ; Kumar, D. ; Lim, D. ; Lowther, G. ; Marks, K. ; Maye, U. ; McConnell, V. ; McGowan, R. ; McMullan, D.J. ; Metcalfe, K. ; Mohammed, S. ; Nevitt, L. ; Newbury-Ecob, R. ; Ogilvie, C. ; Paterson, J. ; Payne, S. ; Porteous, D. ; Raymond, L. ; Roberts, E. ; Roberts, G. ; Roberts, P. ; Ross, A. ; Saggar, A. ; Sandford, R. ; Schweiger, S. ; Scott, C. ; Selby, A. ; Seller, A. ; Shears, D. ; Singzon, R. ; Smith, B. ; Sneddon, L. ; Stewart, F. ; Stewart, H. ; Suri, M. ; Swaminathan, G.J. ; Sweeney, E. ; Tolmie, J. ; Turner, C. ; Tysoe, C. ; Vasudevan, P. ; Vogt, J. ; Waters, J. ; Wellesley, D. ; Widaa, S. ; Wilcox, S. ; Williams, N. ; Yang, F. ; Wright, C.F. ; Barrett, J.C. ; Hurles, M.E.

American journal of human genetics, 2019-11, Vol.105 (5), p.933-946 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa
Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa
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Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa

Aldred, M A ; Dry, K L ; Knight-Jones, E B ; Hardwick, L J ; Teague, P W ; Lester, D H ; Brown, J ; Spowart, G ; Carothers, A D ; Raeburn, J A

American journal of human genetics, 1994-11, Vol.55 (5), p.916-922 [Periódico revisado por pares]

United States

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3
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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4
Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases
Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases
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Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases

CREMERS, F. P. M ; SANKILA, E.-M ; DE LA CHAPELLE, A ; PAWLOWITZKI, I. H ; ROPERS, H.-H ; BRUNSMANN, F ; JAY, M ; JAY, B ; WRIGHT, A ; PINCKERS, A. J. L. G ; SCHWARTZ, M ; VAN DE POL, D. J. R ; WIERINGA, B

American journal of human genetics, 1990-10, Vol.47 (4), p.622-628 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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5
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
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An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

Dimmock, David P ; Clark, Michelle M ; Gaughran, Mary ; Cakici, Julie A ; Caylor, Sara A ; Clarke, Christina ; Feddock, Michele ; Chowdhury, Shimul ; Salz, Lisa ; Cheung, Cynthia ; Bird, Lynne M ; Hobbs, Charlotte ; Wigby, Kristen ; Farnaes, Lauge ; Bloss, Cinnamon S ; Kingsmore, Stephen F

American journal of human genetics, 2020-11, Vol.107 (5), p.942-952 [Periódico revisado por pares]

United States: Elsevier

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6
Primary, Nonsyndromic Vesicoureteric Reflux and Its Nephropathy Is Genetically Heterogeneous, with a Locus on Chromosome 1
Primary, Nonsyndromic Vesicoureteric Reflux and Its Nephropathy Is Genetically Heterogeneous, with a Locus on Chromosome 1
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Primary, Nonsyndromic Vesicoureteric Reflux and Its Nephropathy Is Genetically Heterogeneous, with a Locus on Chromosome 1

Feather, Sally A. ; Malcolm, Sue ; Woolf, Adrian S. ; Wright, Victoria ; Blaydon, Diana ; Reid, Christopher J.D. ; Flinter, Frances A. ; Proesmans, Willem ; Devriendt, Koen ; Carter, Joan ; Warwicker, Paul ; Goodship, Timothy H.J. ; Goodship, Judith A.

American journal of human genetics, 2000-04, Vol.66 (4), p.1420-1425 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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7
Identification of the Gene for Oral-Facial-Digital Type I Syndrome
Identification of the Gene for Oral-Facial-Digital Type I Syndrome
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Identification of the Gene for Oral-Facial-Digital Type I Syndrome

Ferrante, Maria I. ; Feather, Sally A. ; Bulfone, Alessandro ; Wright, Victoria ; Ghiani, Michela ; Selicorni, Angelo ; Gammaro, Linda ; Scolari, Francesco ; Woolf, Adrian S. ; Sylvie, Odent ; Bernard, Le Marec ; Malcolm, Sue ; Winter, Robin ; Ballabio, Andrea ; Giorgio, Giovanna ; Franco, Brunella

American journal of human genetics, 2001-03, Vol.68 (3), p.569-576 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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8
Discovery and Fine Mapping of Serum Protein Loci through Transethnic Meta-analysis
Discovery and Fine Mapping of Serum Protein Loci through Transethnic Meta-analysis
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Discovery and Fine Mapping of Serum Protein Loci through Transethnic Meta-analysis

FRANCESCHINI, Nora ; VAN ROOIJ, Frank J. A ; BAUMERT, Jens ; BORASKA, Vesna ; BROER, Linda ; HAYWARD, Caroline ; NGWA, Julius S ; OKADA, Yukinori ; POLASEK, Ozren ; WESTRA, Harm-Jan ; WANG, Ying A ; DEL GRECO M, Fabiola ; PRINS, Bram P ; GLAZER, Nicole L ; KAPUR, Karen ; KEMA, Ido P ; LOPEZ, Lorna M ; SCHILLERT, Arne ; SMITH, Albert V ; WINKLER, Cheryl A ; ZGAGA, Lina ; BANDINELLI, Stefania ; BERGMANN, Sven ; FEITOSA, Mary F ; BOBAN, Mladen ; BOCHUD, Murielle ; CHEN, Y. D ; DAVIES, Gail ; DEHGHAN, Abbas ; JINGZHONG DING ; DOERING, Angela ; DURDA, J. Peter ; FERRUCCI, Luigi ; FRANCO, Oscar H ; KARAKAS, Mahir ; FRANKE, Lude ; GUNJACA, Grog ; HOFMAN, Albert ; HSU, Fang-Chi ; KOLCIC, Ivana ; KRAJA, Aldi ; KUBO, Michiaki ; LACKNER, Karl J ; LAUNER, Lenore ; LOEHR, Laura R ; ECKFELDT, John H ; GUO LI ; MEISINGER, Christa ; NAKAMURA, Yusuke ; SCHWIENBACHER, Christine ; STARR, John M ; TAKAHASHI, Atsushi ; TORLAK, Vesela ; UITTERLINDEN, Andre G ; VITART, Veronique ; WALDENBERGER, Melanie ; FOLSOM, Aaron R ; KOPP, Jeffrey ; VAEZ, Ahmad ; ANDREWS, Jeanette S

American journal of human genetics, 2012-10, Vol.91 (4), p.744-753 [Periódico revisado por pares]

Cambridge, MA: Cell Press

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9
A recombination outside the BB deletion refines the location of the X-linked retinitis pigmentosa locus RP3
A recombination outside the BB deletion refines the location of the X-linked retinitis pigmentosa locus RP3
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A recombination outside the BB deletion refines the location of the X-linked retinitis pigmentosa locus RP3

FUJITA, R ; BINGHAM, E ; WRIGHT, A. F ; OTT, J ; SIEVING, P. A ; SWAROOP, A ; FORSYTHE, P ; MCHENRY, C ; AITA, V ; NAVIA, B. A ; DRY, K ; SEGAL, M ; DEVOTO, M ; BRUNS, G

American journal of human genetics, 1996-07, Vol.59 (1), p.152-158 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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10
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

Gueneau, Lucie ; Fish, Richard J. ; Shamseldin, Hanan E. ; Voisin, Norine ; Tran Mau-Them, Frédéric ; Preiksaitiene, Egle ; Monroe, Glen R. ; Lai, Angeline ; Putoux, Audrey ; Allias, Fabienne ; Ambusaidi, Qamariya ; Ambrozaityte, Laima ; Cimbalistienė, Loreta ; Delafontaine, Julien ; Guex, Nicolas ; Hashem, Mais ; Kurdi, Wesam ; Jamuar, Saumya Shekhar ; Ying, Lim J. ; Bonnard, Carine ; Pippucci, Tommaso ; Pradervand, Sylvain ; Roechert, Bernd ; van Hasselt, Peter M. ; Wiederkehr, Michaël ; Wright, Caroline F. ; Xenarios, Ioannis ; van Haaften, Gijs ; Shaw-Smith, Charles ; Schindewolf, Erica M. ; Neerman-Arbez, Marguerite ; Sanlaville, Damien ; Lesca, Gaëtan ; Guibaud, Laurent ; Reversade, Bruno ; Chelly, Jamel ; Kučinskas, Vaidutis ; Alkuraya, Fowzan S. ; Reymond, Alexandre

American journal of human genetics, 2018-01, Vol.102 (1), p.116-132 [Periódico revisado por pares]

United States: Elsevier Inc

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