Detalhe da pesquisa
1.
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Proc Natl Acad Sci U S A
; 117(6): 3053-3062, 2020 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31980526
2.
Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms.
Dev Med Child Neurol
; 64(5): 633-640, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830182
3.
Identification of Misclassified ClinVar Variants via Disease Population Prevalence.
Am J Hum Genet
; 102(4): 609-619, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29625023
4.
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.
Am J Hum Genet
; 102(4): 557-573, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29576218
5.
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.
Hum Mol Genet
; 26(15): 2838-2849, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28449119
6.
Response to Whiffin et al.
Am J Hum Genet
; 104(1): 186, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609405
7.
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Am J Hum Genet
; 93(3): 506-14, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24011988
8.
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
J Med Genet
; 52(8): 532-40, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25787132
9.
Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarityciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.
Am J Med Genet A
; 167A(2): 421-7, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25427950
10.
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
Am J Med Genet A
; 164A(4): 950-7, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24458743
11.
Stercoral perforation of the cecum: A case report.
World J Gastrointest Surg
; 16(4): 1189-1194, 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38690055
12.
Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans.
HGG Adv
; 3(1): 100082, 2022 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35047866
13.
Genome-wide copy number variations in a large cohort of bantu African children.
BMC Med Genomics
; 14(1): 129, 2021 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34001112
14.
Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish.
Biol Open
; 9(4)2020 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32205311
15.
An unsupervised learning approach to identify novel signatures of health and disease from multimodal data.
Genome Med
; 12(1): 7, 2020 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31924279
16.
The human noncoding genome defined by genetic diversity.
Nat Genet
; 50(3): 333-337, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29483654
17.
X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.
Pediatr Neurol
; 71: 65-69, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28363510
18.
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites.
Nat Genet
; 49(4): 568-578, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28263315
19.
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.
Cold Spring Harb Mol Case Stud
; 2(3): a000844, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27148590
20.
Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?
Tremor Other Hyperkinet Mov (N Y)
; 4: 258, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25374765