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Pengfei Liu
Pengfei Liu
Molecular and Human Genetics, Baylor College of Medicine
Verified email at bcm.edu
Title
Cited by
Cited by
Year
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
14602014
Resolution of disease phenotypes resulting from multilocus genomic variation
JE Posey, T Harel, P Liu, JA Rosenfeld, RA James, ZH Coban Akdemir, ...
New England Journal of Medicine 376 (1), 21-31, 2017
6392017
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
5822010
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
4592011
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
4152017
Mechanisms for recurrent and complex human genomic rearrangements
P Liu, CMB Carvalho, PJ Hastings, JR Lupski
Current opinion in genetics & development 22 (3), 211-220, 2012
3792012
Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation
G Trivellin, AF Daly, FR Faucz, B Yuan, L Rostomyan, DO Larco, ...
New England Journal of Medicine 371 (25), 2363-2374, 2014
3272014
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis
N Gomez-Ospina, CJ Potter, R Xiao, K Manickam, MS Kim, KH Kim, ...
Nature communications 7 (1), 10713, 2016
2912016
TBX6 null variants and a common hypomorphic allele in congenital scoliosis
N Wu, X Ming, J Xiao, Z Wu, X Chen, M Shinawi, Y Shen, G Yu, J Liu, ...
New England Journal of Medicine 372 (4), 341-350, 2015
2722015
Lessons learned from additional research analyses of unsolved clinical exome cases
MK Eldomery, Z Coban-Akdemir, T Harel, JA Rosenfeld, T Gambin, ...
Genome medicine 9, 1-15, 2017
2242017
Reanalysis of clinical exome sequencing data
P Liu, L Meng, EA Normand, F Xia, X Song, A Ghazi, J Rosenfeld, ...
New England Journal of Medicine 380 (25), 2478-2480, 2019
2212019
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
2202009
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
CMB Carvalho, MB Ramocki, D Pehlivan, LM Franco, ...
Nature genetics 43 (11), 1074-1081, 2011
2112011
Insights into genetics, human biology and disease gleaned from family based genomic studies
JE Posey, AH O’Donnell-Luria, JX Chong, T Harel, SN Jhangiani, ...
Genetics in Medicine 21 (4), 798-812, 2019
1852019
X-linked acrogigantism syndrome: clinical profile and therapeutic responses
A Beckers, MB Lodish, G Trivellin, L Rostomyan, M Lee, FR Faucz, ...
Endocrine-related cancer 22 (3), 353-367, 2015
1782015
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits
P Dittwald, T Gambin, P Szafranski, J Li, S Amato, MY Divon, LXR Rojas, ...
Genome research 23 (9), 1395-1409, 2013
1522013
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability
F Zhang, P Seeman, P Liu, MAJ Weterman, C Gonzaga-Jauregui, ...
The American Journal of Human Genetics 86 (6), 892-903, 2010
1492010
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ...
Nature communications 11 (1), 4932, 2020
1412020
Copy-number variation contributes to the mutational load of Bardet-Biedl syndrome
A Lindstrand, S Frangakis, CMB Carvalho, EB Richardson, KA McFadden, ...
The American Journal of Human Genetics 99 (2), 318-336, 2016
1402016
De novo mutations in CHD4, an ATP-dependent chromatin remodeler gene, cause an intellectual disability syndrome with distinctive dysmorphisms
K Weiss, PA Terhal, L Cohen, M Bruccoleri, M Irving, AF Martinez, ...
The American Journal of Human Genetics 99 (4), 934-941, 2016
1392016
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