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Donna Martin
Donna Martin
Student nurse
Adresă de e-mail confirmată pe ulster.ac.uk
Titlu
Citat de
Citat de
Anul
Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism
SJ Sanders, AG Ercan-Sencicek, V Hus, R Luo, MT Murtha, ...
Neuron 70 (5), 863-885, 2011
14742011
Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci
SJ Sanders, X He, AJ Willsey, AG Ercan-Sencicek, KE Samocha, ...
Neuron 87 (6), 1215-1233, 2015
14652015
Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ...
Nature 600 (7889), 472-477, 2021
7242021
A multisite study of the clinical diagnosis of different autism spectrum disorders
C Lord, E Petkova, V Hus, W Gan, F Lu, DM Martin, O Ousley, L Guy, ...
Archives of general psychiatry 69 (3), 306-313, 2012
7082012
Phenotypic heterogeneity of genomic disorders and rare copy-number variants
S Girirajan, JA Rosenfeld, BP Coe, S Parikh, N Friedman, A Goldstein, ...
New England Journal of Medicine 367 (14), 1321-1331, 2012
6132012
Common genetic variants, acting additively, are a major source of risk for autism
L Klei, SJ Sanders, MT Murtha, V Hus, JK Lowe, AJ Willsey, ...
Molecular autism 3, 1-13, 2012
4672012
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
DJ Weiner, EM Wigdor, S Ripke, RK Walters, JA Kosmicki, J Grove, ...
Nature genetics 49 (7), 978-985, 2017
4622017
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
GE Zentner, WS Layman, DM Martin, PC Scacheri
American journal of medical genetics Part A 152 (3), 674-686, 2010
3532010
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24. 32 and a significant overlap with schizophrenia
Molecular autism 8, 1-17, 2017
3342017
Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues
EA Hurd, PL Capers, MN Blauwkamp, ME Adams, Y Raphael, ...
Mammalian Genome 18, 94-104, 2007
1912007
Nestin-lineage cells contribute to the microvasculature but not endocrine cells of the islet
MK Treutelaar, JM Skidmore, CL Dias-Leme, M Hara, L Zhang, ...
Diabetes 52 (10), 2503-2512, 2003
1822003
Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes
T Harel, WH Yoon, C Garone, S Gu, Z Coban-Akdemir, MK Eldomery, ...
The American Journal of Human Genetics 99 (4), 831-845, 2016
1752016
SEMA3E mutation in a patient with CHARGE syndrome
SR Lalani, AM Safiullah, LM Molinari, SD Fernbach, DM Martin, ...
Journal of medical genetics 41 (7), e94-e94, 2004
1752004
Chd7 cooperates with Sox10 and regulates the onset of CNS myelination and remyelination
D He, C Marie, C Zhao, B Kim, J Wang, Y Deng, A Clavairoly, M Frah, ...
Nature neuroscience 19 (5), 678-689, 2016
1722016
A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?
P Chaste, L Klei, SJ Sanders, V Hus, MT Murtha, JK Lowe, AJ Willsey, ...
Biological psychiatry 77 (9), 775-784, 2015
1602015
Characterization of progenitor domains in the developing mouse thalamus
TY Vue, J Aaker, A Taniguchi, C Kazemzadeh, JM Skidmore, DM Martin, ...
Journal of Comparative Neurology 505 (1), 73-91, 2007
1582007
The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells
DW Anderson, FJ Probst, IA Belyantseva, RA Fridell, L Beyer, DM Martin, ...
Human Molecular Genetics 9 (12), 1729-1738, 2000
1562000
Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria
CL Hale, AN Niederriter, GE Green, DM Martin
American Journal of Medical Genetics Part A 170 (2), 344-354, 2016
1472016
Inappropriate p53 activation during development induces features of CHARGE syndrome
JL Van Nostrand, CA Brady, H Jung, DR Fuentes, MM Kozak, ...
Nature 514 (7521), 228-232, 2014
1442014
The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear
EA Hurd, HK Poucher, K Cheng, Y Raphael, DM Martin
Development 137 (18), 3139-3150, 2010
1312010
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