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vernon sutton
vernon sutton
Professor of Molecular & Human Genetics, Baylor College of Medicine & Texas Children's Hospital
Correu electrònic verificat a texaschildrens.org
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The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities
JX Chong, KJ Buckingham, SN Jhangiani, C Boehm, N Sobreira, ...
The American Journal of Human Genetics 97 (2), 199-215, 2015
7832015
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
7092017
Asprosin, a fasting-induced glucogenic protein hormone
C Romere, C Duerrschmid, J Bournat, P Constable, M Jain, F Xia, ...
Cell 165 (3), 566-579, 2016
5792016
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
4442017
Asprosin is a centrally acting orexigenic hormone
C Duerrschmid, Y He, C Wang, C Li, JC Bournat, C Romere, PK Saha, ...
Nature medicine 23 (12), 1444-1453, 2017
3702017
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA
MJ Lindhurst, VER Parker, F Payne, JC Sapp, S Rudge, J Harris, ...
Nature genetics 44 (8), 928-933, 2012
3282012
Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum
KM Keppler‐Noreuil, JC Sapp, MJ Lindhurst, VER Parker, C Blumhorst, ...
American journal of medical genetics Part A 164 (7), 1713-1733, 2014
3192014
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome
SK Shapira, C McCaskill, H Northrup, AS Spikes, FFB Elder, VR Sutton, ...
The American Journal of Human Genetics 61 (3), 642-650, 1997
3131997
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
3082015
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia
X Wang, V Reid Sutton, J Omar Peraza-Llanes, Z Yu, R Rosetta, YC Kou, ...
Nature genetics 39 (7), 836-838, 2007
3002007
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
2702019
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
2662007
Nosology of genetic skeletal disorders: 2023 revision
S Unger, CR Ferreira, GR Mortier, H Ali, DR Bertola, A Calder, DH Cohn, ...
American Journal of Medical Genetics Part A 191 (5), 1164-1209, 2023
2522023
22q11. 2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome
S Ben-Shachar, Z Ou, CA Shaw, JW Belmont, MS Patel, M Hummel, ...
The American Journal of Human Genetics 82 (1), 214-221, 2008
2462008
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
2442017
Molecular diagnostic experience of whole-exome sequencing in adult patients
JE Posey, JA Rosenfeld, RA James, M Bainbridge, Z Niu, X Wang, S Dhar, ...
Genetics in Medicine 18 (7), 678-685, 2016
2432016
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
MJ Miller, AD Kennedy, AD Eckhart, LC Burrage, JE Wulff, LAD Miller, ...
Journal of inherited metabolic disease 38, 1029-1039, 2015
2272015
Microduplications of 22q11. 2 are frequently inherited and are associated with variable phenotypes
Z Ou, JS Berg, H Yonath, VB Enciso, DT Miller, J Picker, T Lenzi, ...
Genetics in Medicine 10 (4), 267-277, 2008
2172008
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
1982019
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes
B Yuan, D Pehlivan, E Karaca, N Patel, WL Charng, T Gambin, ...
The Journal of clinical investigation 125 (2), 636-651, 2015
1912015
En aquests moments el sistema no pot dur a terme l'operació. Torneu-ho a provar més tard.
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