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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities
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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

HODGE, J. C ; MITCHELL, E ; HANSON, R. R ; SKINNER, S. A ; ROGERS, R. C ; EVERMAN, D. B ; BOYD, E ; TAPP, C ; MULLEGAMA, S. V ; KEELEAN-FULLER, D ; POWELL, C. M ; ELSEA, S. H ; PILLALAMARRI, V ; MORTON, C. C ; GUSELLA, J. F ; DUPONT, B ; CHAUBEY, A ; LIN, A. E ; TALKOWSKI, M. E ; TOLER, T. L ; BARTEL, F ; KEARNEY, H. M ; ZOU, Y. S ; TAN, W. H ; HANSCOM, C ; KIRMANI, S

Molecular psychiatry, 2014-03, Vol.19 (3), p.368-379 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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2
Complex reorganization and predominant non- homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
Complex reorganization and predominant non- homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
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Complex reorganization and predominant non- homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

CHIANG, Colby ; JACOBSEN, Jessie C ; MCLAUGHLAN, Clive J ; SIMON BAWDEN, C ; REID, Suzanne J ; FAULL, Richard L. M ; SNELL, Russell G ; HALL, Ira M ; YIPING SHEN ; OHSUMI, Toshiro K ; BOROWSKY, Mark L ; DALY, Mark J ; ERNST, Carl ; LEE, Charles ; MORTON, Cynthia C ; MACDONALD, Marcy E ; GUSELLA, James F ; TALKOWSKI, Michael E ; HANSCOM, Carrie ; HEILBUT, Adrian ; BLUMENTHAL, Ian ; MILLS, Ryan E ; KIRBY, Andrew ; LINDGREN, Amelia M ; RUDIGER, Skye R

Nature genetics, 2012-04, Vol.44 (4), p.390-397 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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3
Forecasting Fire Season Severity in South America Using Sea Surface Temperature Anomalies
Forecasting Fire Season Severity in South America Using Sea Surface Temperature Anomalies
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Forecasting Fire Season Severity in South America Using Sea Surface Temperature Anomalies

Chen, Yang ; Randerson, James T. ; Morton, Douglas C. ; DeFries, Ruth S. ; Collatz, G. James ; Kasibhatla, Prasad S. ; Giglio, Louis ; Jin, Yufang ; Marlier, Miriam E.

Science (American Association for the Advancement of Science), 2011-11, Vol.334 (6057), p.787-791 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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4
Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness
Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness
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Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness

Lifton, Richard P ; Karet, Fiona E ; Finberg, Karin E ; Nelson, Raoul D ; Nayir, Ahmet ; Mocan, Hilal ; Sanjad, Sami A ; Rodriguez-Soriano, Juan ; Santos, Fernando ; Cremers, Cor W.R.J ; Pietro, Antonio Di ; Hoffbrand, Barry I ; Winiarski, Jacek ; Bakkaloglu, Aysin ; Ozen, Seza ; Dusunsel, Ruhan ; Goodyer, Paul ; Hulton, Sally A ; Wu, Doris K ; Skvorak, Anne B ; Morton, Cynthia C ; Cunningham, Michael J ; Jha, Vivekanand

Nature genetics, 1999-01, Vol.21 (1), p.84-90 [Periódico revisado por pares]

London: Nature Publishing Group

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5
Results from the first three rounds of the Scottish demonstration pilot of FOBT screening for colorectal cancer
Results from the first three rounds of the Scottish demonstration pilot of FOBT screening for colorectal cancer
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Results from the first three rounds of the Scottish demonstration pilot of FOBT screening for colorectal cancer

Steele, R J C ; McClements, P L ; Libby, G ; Black, R ; Morton, C ; Birrell, J ; Mowat, N A G ; Wilson, J A ; Kenicer, M ; Carey, F A ; Fraser, C G

Gut, 2009-04, Vol.58 (4), p.530-535 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd and British Society of Gastroenterology

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6
Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3
Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3
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Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3

Wang, Aihui ; Liang, Yong ; Fridell, Robert A. ; Probst, Frank J. ; Wilcox, Edward R. ; Touchman, Jeffrey W. ; Morton, Cynthia C. ; Morell, Robert J. ; Noben-Trauth, Konrad ; Camper, Sally A. ; Friedman, Thomas B.

Science (American Association for the Advancement of Science), 1998-05, Vol.280 (5368), p.1447-1451 [Periódico revisado por pares]

Washington, DC: American Society for the Advancement of Science

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7
Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9
Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9
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Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9

Robertson, N G ; Hamaker, S A ; Patriub, V ; Aster, J C ; Morton, C C

Journal of medical genetics, 2003-07, Vol.40 (7), p.479-486 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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8
Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa
Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa
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Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa

Eudy, James D. ; Weston, Michael D. ; Yao, SuFang ; Hoover, Denise M. ; Rehm, Heidi L. ; Ma-Edmonds, Manling ; Yan, Denise ; Ahmad, Iqbal ; Cheng, Jason J. ; Ayuso, Carmen ; Cremers, Cor ; Davenport, Sandra ; Moller, Claes ; Talmadge, Catherine B. ; Beisel, Kirk W. ; Tamayo, Marta ; Morton, Cynthia C. ; Swaroop, Anand ; Kimberling, William J. ; Sumegi, Janos

Science (American Association for the Advancement of Science), 1998-06, Vol.280 (5370), p.1753-1757 [Periódico revisado por pares]

Washington, DC: American Society for the Advancement of Science

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9
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction
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Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

Heller, Stefan ; Seidman, J.G ; Lu, Leonard ; Merchant, Saumil N ; Eavey, Roland D ; McKenna, Michael ; Hudspeth, A.J ; Miyamoto, Richard T ; Seidman, Christine E ; Nadol, Joseph B ; Linthicum, Frederick H ; Morton, Cynthia C ; Lubianca Neto, José F ; Robertson, Nahid G

Nature genetics, 1998-11, Vol.20 (3), p.299-303 [Periódico revisado por pares]

London: Nature Publishing Group

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10
Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans
Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans
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Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans

Vahava, Oz ; Morell, Robert ; Lynch, Eric D. ; Weiss, Sigal ; Kagan, Marjory E. ; Ahituv, Nadav ; Morrow, Jan E. ; Lee, Ming K. ; Skvorak, Anne B. ; Morton, Cynthia C. ; Blumenfeld, Anat ; Frydman, Moshe ; Friedman, Thomas B. ; King, Mary-Claire ; Avraham, Karen B.

Science (American Association for the Advancement of Science), 1998-03, Vol.279 (5358), p.1950-1954 [Periódico revisado por pares]

Washington, DC: American Society for the Advancement of Science

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