Detalhe da pesquisa
1.
Growth reference charts for children with hypochondroplasia.
Am J Med Genet A
; 194(2): 243-252, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37814549
2.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med
; 25(1): 37-48, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322149
3.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A
; 188(10): 2958-2968, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904974
4.
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Am J Hum Genet
; 103(1): 3-18, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909963
5.
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Am J Hum Genet
; 100(5): 725-736, 2017 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475857
6.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Genet Med
; 22(3): 524-537, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578471
7.
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
Clin Genet
; 98(1): 19-31, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32291752
8.
Initial Validation of IBD KNOW-IT: Measuring Patient and Caregiver Knowledge of a Child's Disease and Treatment Regimen.
J Clin Psychol Med Settings
; 27(3): 480-489, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31144222
9.
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.
Hum Mutat
; 40(2): 142-161, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30461124
10.
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Am J Med Genet C Semin Med Genet
; 181(4): 638-643, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31714006
11.
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Am J Med Genet C Semin Med Genet
; 181(4): 502-508, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31479583
12.
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Am J Med Genet C Semin Med Genet
; 181(4): 557-564, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721432
13.
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.
Am J Med Genet A
; 179(4): 588-594, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30793471
14.
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
J Med Genet
; 55(1): 28-38, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29021403
15.
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
J Med Genet
; 55(6): 384-394, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29386252
16.
Further delineation of Malan syndrome.
Hum Mutat
; 39(9): 1226-1237, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29897170
17.
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.
Hum Mol Genet
; 25(9): 1836-45, 2016 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26945007
18.
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
Nature
; 482(7383): 98-102, 2012 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22266938
19.
Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage.
Prenat Diagn
; 36(4): 312-20, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26824862
20.
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
J Med Genet
; 52(4): 240-7, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604083