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Nancy Spinner
Nancy Spinner
Professor, The University of Pennsylvania and The Children's Hospital of Philadelphia
Dirección de correo verificada de chop.edu
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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
DT Miller, MP Adam, S Aradhya, LG Biesecker, AR Brothman, NP Carter, ...
The American Journal of Human Genetics 86 (5), 749-764, 2010
26122010
KILLER/DR5 is a DNA damage-inducible p53-regulated death receptor gene
GS Wu, TF Burns, ER McDonald 3rd, W Jiang, R Meng, ID Krantz, G Kao, ...
Nature genetics 17 (2), 141-143, 1997
13571997
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
L Li, ID Krantz, YU Deng, A Genin, AB Banta, CC Collins, M Qi, BJ Trask, ...
Nature genetics 16 (3), 243-251, 1997
13171997
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
T Oda, AG Elkahloun, BL Pike, K Okajima, ID Krantz, A Genin, DA Piccoli, ...
Nature genetics 16 (3), 235-242, 1997
11811997
Microduplications of 16p11. 2 are associated with schizophrenia
SE McCarthy, V Makarov, G Kirov, AM Addington, J McClellan, S Yoon, ...
Nature genetics 41 (11), 1223-1227, 2009
7472009
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
R McDaniell, DM Warthen, PA Sanchez-Lara, A Pai, ID Krantz, DA Piccoli, ...
The American Journal of Human Genetics 79 (1), 169-173, 2006
7402006
Features of Alagille syndrome in 92 patients: frequency and relation to prognosis
KM Emerick, EB Rand, E Goldmuntz, ID Krantz, NB Spinner, DA Piccoli
Hepatology 29 (3), 822-829, 1999
6081999
A genomic view of mosaicism and human disease
LG Biesecker, NB Spinner
Nature Reviews Genetics 14 (5), 307-320, 2013
5282013
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
LK Conlin, BD Thiel, CG Bonnemann, L Medne, LM Ernst, EH Zackai, ...
Human molecular genetics 19 (7), 1263-1275, 2010
4532010
Deletions and microdeletions of 22q11. 2 in velo‐cardio‐facial syndrome
DA Driscoll, NB Spinner, ML Budarf, DM McDonald‐McGinn, EH Zackai, ...
American journal of medical genetics 44 (2), 261-268, 1992
4471992
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
TH Shaikh, X Gai, JC Perin, JT Glessner, H Xie, K Murphy, R O'Hara, ...
Genome research 19 (9), 1682-1690, 2009
4102009
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier
G Seidner, MG Alvarez, JI Yeh, KR O'Driscoll, J Klepper, TS Stump, ...
Nature genetics 18 (2), 188-191, 1998
4041998
Return of genomic results to research participants: the floor, the ceiling, and the choices in between
GP Jarvik, LM Amendola, JS Berg, K Brothers, EW Clayton, W Chung, ...
The American Journal of Human Genetics 94 (6), 818-826, 2014
3652014
Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents
JR Botkin, JW Belmont, JS Berg, BE Berkman, Y Bombard, IA Holm, ...
The American Journal of Human Genetics 97 (1), 6-21, 2015
3612015
Notch signaling in human development and disease
AL Penton, LD Leonard, NB Spinner
Seminars in cell & developmental biology 23 (4), 450-457, 2012
3432012
Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality
BM Kamath, NB Spinner, KM Emerick, AE Chudley, C Booth, DA Piccoli, ...
Circulation 109 (11), 1354-1358, 2004
3382004
Actionable exomic incidental findings in 6503 participants: challenges of variant classification
LM Amendola, MO Dorschner, PD Robertson, JS Salama, R Hart, ...
Genome research 25 (3), 305-315, 2015
3292015
Analysis of Cardiovascular Phenotype and Genotype-Phenotype Correlation in Individuals With a JAG1 Mutation and/or Alagille Syndrome
DB McElhinney, ID Krantz, L Bason, DA Piccoli, KM Emerick, NB Spinner, ...
Circulation 106 (20), 2567-2574, 2002
2952002
Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells
J Liu, Z Zhang, M Bando, T Itoh, MA Deardorff, D Clark, M Kaur, S Tandy, ...
PLoS biology 7 (5), e1000119, 2009
2492009
Jagged1 mutations in Alagille syndrome
NB Spinner, RP Colliton, C Crosnier, ID Krantz, M Hadchouel, ...
Human mutation 17 (1), 18-33, 2001
2442001
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
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