Pawel Stankiewicz
Pawel Stankiewicz
Baylor Colelge of Medicine
Zweryfikowany adres z bcm.edu - Strona główna
Cytowane przez
Cytowane przez
Structural variation in the human genome and its role in disease
P Stankiewicz, JR Lupski
Annual review of medicine 61, 437-455, 2010
Genome architecture, rearrangements and genomic disorders
P Stankiewicz, JR Lupski
TRENDS in Genetics 18 (2), 74-82, 2002
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
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes
JR Lupski, P Stankiewicz
PLoS genetics 1 (6), e49, 2005
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
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
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
P Liu, A Erez, SCS Nagamani, SU Dhar, KE Kołodziejska, ...
Cell 146 (6), 889-903, 2011
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
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
Genomic and genic deletions of the FOX gene cluster on 16q24. 1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
P Stankiewicz, P Sen, SS Bhatt, M Storer, Z Xia, BA Bejjani, Z Ou, ...
The American Journal of Human Genetics 84 (6), 780-791, 2009
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
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
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
Somatic mosaicism: implications for disease and transmission genetics
IM Campbell, CA Shaw, P Stankiewicz, JR Lupski
Trends in Genetics 31 (7), 382-392, 2015
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
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
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
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders
IM Campbell, BO Yuan, C Robberecht, R Pfundt, P Szafranski, ...
The American Journal of Human Genetics 95 (2), 173-182, 2014
Genome architecture catalyzes nonrecurrent chromosomal rearrangements
P Stankiewicz, CJ Shaw, JD Dapper, K Wakui, LG Shaffer, M Withers, ...
The American Journal of Human Genetics 72 (5), 1101-1116, 2003
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
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