Pawel Stankiewicz
Pawel Stankiewicz
Baylor Colelge of Medicine
Zweryfikowany adres z bcm.edu - Strona główna
Tytuł
Cytowane przez
Cytowane przez
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Structural variation in the human genome and its role in disease
P Stankiewicz, JR Lupski
Annual review of medicine 61, 437-455, 2010
12192010
Genome architecture, rearrangements and genomic disorders
P Stankiewicz, JR Lupski
TRENDS in Genetics 18 (2), 74-82, 2002
10142002
Whole-genome sequencing in a patient with Charcot–Marie–Tooth neuropathy
JR Lupski, JG Reid, C Gonzaga-Jauregui, D Rio Deiros, DCY Chen, ...
New England Journal of Medicine 362 (13), 1181-1191, 2010
8172010
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes
JR Lupski, P Stankiewicz
PLoS Genet 1 (6), e49, 2005
5962005
Recurrent reciprocal 1q21. 1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
N Brunetti-Pierri, JS Berg, F Scaglia, J Belmont, CA Bacino, T Sahoo, ...
Nature genetics 40 (12), 1466-1471, 2008
5672008
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
4722010
Characterization of Potocki-Lupski syndrome (dup (17)(p11. 2p11. 2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype
L Potocki, W Bi, D Treadwell-Deering, CMB Carvalho, A Eifert, ...
The American Journal of Human Genetics 80 (4), 633-649, 2007
3922007
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
P Stankiewicz, AL Beaudet
Current opinion in genetics & development 17 (3), 182-192, 2007
3842007
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
CF Boerkoel, H Takashima, J John, J Yan, P Stankiewicz, L Rosenbarker, ...
Nature genetics 30 (2), 215-220, 2002
3052002
Detection of clinically relevant exonic copy‐number changes by array CGH
PM Boone, CA Bacino, CA Shaw, PA Eng, PM Hixson, AN Pursley, ...
Human mutation 31 (12), 1326-1342, 2010
2432010
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases
X Lu, CA Shaw, A Patel, J Li, ML Cooper, WR Wells, CM Sullivan, ...
PloS one 2 (3), e327, 2007
2362007
Periaxin mutations cause recessive Dejerine-Sottas neuropathy
CF Boerkoel, H Takashima, P Stankiewicz, CA Garcia, SM Leber, ...
The American Journal of Human Genetics 68 (2), 325-333, 2001
2342001
Microdeletion 15q13. 3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
S Ben-Shachar, B Lanpher, JR German, M Qasaymeh, L Potocki, ...
Journal of medical genetics 46 (6), 382-388, 2009
2232009
Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics
SW Cheung, CA Shaw, DA Scott, A Patel, T Sahoo, CA Bacino, A Pursley, ...
American Journal of Medical Genetics Part A 143 (15), 1679-1686, 2007
2052007
Somatic mosaicism: implications for disease and transmission genetics
IM Campbell, CA Shaw, P Stankiewicz, JR Lupski
Trends in Genetics 31 (7), 382-392, 2015
1962015
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization
T Sahoo, SW Cheung, P Ward, S Darilek, A Patel, D Del Gaudio, ...
Genetics in Medicine 8 (11), 719-727, 2006
1892006
A small recurrent deletion within 15q13. 3 is associated with a range of neurodevelopmental phenotypes
M Shinawi, CP Schaaf, SS Bhatt, Z Xia, A Patel, SW Cheung, B Lanpher, ...
Nature genetics 41 (12), 1269-1271, 2009
1882009
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
CMB Carvalho, F Zhang, P Liu, A Patel, T Sahoo, CA Bacino, C Shaw, ...
Human molecular genetics 18 (12), 2188-2203, 2009
1842009
Molecular-evolutionary mechanisms for genomic disorders
P Stankiewicz, JR Lupski
Current opinion in genetics & development 12 (3), 312-319, 2002
1722002
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis
XY Lu, MT Phung, CA Shaw, K Pham, SE Neil, A Patel, T Sahoo, ...
Pediatrics 122 (6), 1310-1318, 2008
1622008
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