Detalhe da pesquisa
1.
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Cell
; 177(1): 32-37, 2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30901545
2.
A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction.
Am J Med Genet A
; 194(2): 383-388, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37850521
3.
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Am J Hum Genet
; 106(5): 596-610, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32243864
4.
Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.
J Med Genet
; 59(6): 613-622, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34135092
5.
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Genome Res
; 29(7): 1057-1066, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160375
6.
Pathogenicity and selective constraint on variation near splice sites.
Genome Res
; 29(2): 159-170, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30587507
7.
Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment.
Clin Endocrinol (Oxf)
; 97(3): 284-292, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35261046
8.
A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.
Am J Med Genet A
; 188(6): 1896-1903, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266280
9.
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Am J Hum Genet
; 102(1): 175-187, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276005
10.
Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants.
Am J Med Genet A
; 185(3): 871-876, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33338304
11.
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.
J Med Genet
; 57(10): 683-691, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32054688
12.
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
13.
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
Am J Hum Genet
; 98(6): 1256-1265, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27236920
14.
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
Am J Hum Genet
; 98(5): 981-992, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108798
15.
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Am J Med Genet A
; 179(10): 2049-2055, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31400068
16.
Genetics, molar pregnancies and medieval ideas of monstrous births: the lump of flesh in The King of Tars.
Med Humanit
; 45(1): 2-9, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30087161
17.
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Hum Mutat
; 37(2): 148-54, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26507355
18.
Mutations in PIK3R1 cause SHORT syndrome.
Am J Hum Genet
; 93(1): 158-66, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23810382
19.
The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.
Lancet
; 386(9997): 957-63, 2015 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26231457
20.
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.
Genet Med
; 18(4): 309-15, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26248010