关注
William Craigen
William Craigen
Professor of Molecular and Human Genetics
在 bcm.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
Molecular findings among patients referred for clinical whole-exome sequencing
Y Yang, DM Muzny, F Xia, Z Niu, R Person, Y Ding, P Ward, A Braxton, ...
Jama 312 (18), 1870-1879, 2014
14742014
Voltage-dependent anion channels are dispensable for mitochondrial-dependent cell death
CP Baines, RA Kaiser, T Sheiko, WJ Craigen, JD Molkentin
Nature cell biology 9 (5), 550-555, 2007
11382007
VDAC2 inhibits BAK activation and mitochondrial apoptosis
EHY Cheng, TV Sheiko, JK Fisher, WJ Craigen, SJ Korsmeyer
Science 301 (5632), 513-517, 2003
9952003
Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy
RH Pignatelli, CJ McMahon, WJ Dreyer, SW Denfield, J Price, ...
Circulation 108 (21), 2672-2678, 2003
9152003
Recurrent reciprocal 16p11. 2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
M Shinawi, P Liu, SHL Kang, J Shen, JW Belmont, DA Scott, FJ Probst, ...
Journal of medical genetics 47 (5), 332-341, 2010
5902010
Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
F Scaglia, JA Towbin, WJ Craigen, JW Belmont, EOB Smith, SR Neish, ...
Pediatrics 114 (4), 925-931, 2004
5592004
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation
SR Lalani, AM Safiullah, SD Fernbach, KG Harutyunyan, C Thaller, ...
The American Journal of Human Genetics 78 (2), 303-314, 2006
4502006
Serum leptin level is a regulator of bone mass
F Elefteriou, S Takeda, K Ebihara, J Magre, N Patano, C Ae Kim, Y Ogawa, ...
Proceedings of the National Academy of Sciences 101 (9), 3258-3263, 2004
4242004
Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management
L Meng, M Pammi, A Saronwala, P Magoulas, AR Ghazi, F Vetrini, ...
JAMA pediatrics 171 (12), e173438-e173438, 2017
4192017
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia
L Bartoloni, JL Blouin, Y Pan, C Gehrig, AK Maiti, N Scamuffa, C Rossier, ...
Proceedings of the National Academy of Sciences 99 (16), 10282-10286, 2002
4142002
Expression of peptide chain release factor 2 requires high-efficiency frameshift
WJ Craigen, CT Caskey
Nature 322 (6076), 273-275, 1986
3691986
Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy
JL Jefferies, BW Eidem, JW Belmont, WJ Craigen, SM Ware, SD Fernbach, ...
Circulation 112 (18), 2799-2804, 2005
3232005
Bacterial peptide chain release factors: conserved primary structure and possible frameshift regulation of release factor 2.
WJ Craigen, RG Cook, WP Tate, CT Caskey
Proceedings of the National Academy of Sciences 82 (11), 3616-3620, 1985
3221985
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
D Del Gaudio, P Fang, F Scaglia, PA Ward, WJ Craigen, DG Glaze, ...
Genetics in Medicine 8 (12), 784-792, 2006
3002006
Properties of the permeability transition in VDAC1−/− mitochondria
A Krauskopf, O Eriksson, WJ Craigen, MA Forte, P Bernardi
Biochimica et Biophysica Acta (BBA)-Bioenergetics 1757 (5-6), 590-595, 2006
2882006
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
PB Mills, EJ Footitt, KA Mills, K Tuschl, S Aylett, S Varadkar, C Hemingway, ...
Brain 133 (7), 2148-2159, 2010
2842010
Immotile sperm and infertility in mice lacking mitochondrial voltage-dependent anion channel type 3
MJ Sampson, WK Decker, AL Beaudet, W Ruitenbeek, D Armstrong, ...
Journal of Biological Chemistry 276 (42), 39206-39212, 2001
2812001
Mitochondrial DNA maintenance defects
AW El-Hattab, WJ Craigen, F Scaglia
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1863 (6 …, 2017
2782017
The murine voltage-dependent anion channel gene family: conserved structure and function
MJ Sampson, RS Lovell, WJ Craigen
Journal of Biological Chemistry 272 (30), 18966-18973, 1997
2331997
The role of mitochondrial porins and the permeability transition pore in learning and synaptic plasticity
EJ Weeber, M Levy, MJ Sampson, K Anflous, DL Armstrong, SE Brown, ...
Journal of Biological Chemistry 277 (21), 18891-18897, 2002
2162002
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