Detalhe da pesquisa
1.
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
Hum Mol Genet
; 32(22): 3123-3134, 2023 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37166351
2.
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Hum Mol Genet
; 32(4): 580-594, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067010
3.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord
; 39(1): 141-151, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964426
4.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Am J Hum Genet
; 104(1): 164-178, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30580808
5.
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
J Neurol Neurosurg Psychiatry
; 92(10): 1044-1052, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33903184
6.
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Am J Med Genet A
; 185(2): 517-527, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33398909
7.
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.
J Med Genet
; 55(11): 721-728, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30049826
8.
Mosaic structural variation in children with developmental disorders.
Hum Mol Genet
; 24(10): 2733-45, 2015 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25634561
9.
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Lancet
; 385(9975): 1305-14, 2015 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25529582
10.
De novo mutations in MLL cause Wiedemann-Steiner syndrome.
Am J Hum Genet
; 91(2): 358-64, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22795537
11.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
HGG Adv
; 4(2): 100186, 2023 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37009414
12.
Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition.
Front Immunol
; 14: 1287258, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38115997
13.
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Nat Commun
; 14(1): 853, 2023 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36792598
14.
Late diagnoses of Dravet syndrome: How many individuals are we missing?
Epilepsia Open
; 6(4): 770-776, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34268891
15.
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
J Clin Endocrinol Metab
; 104(12): 5737-5750, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31504653
16.
Quantifying the contribution of recessive coding variation to developmental disorders.
Science
; 362(6419): 1161-1164, 2018 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30409806
17.
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Nat Genet
; 47(11): 1363-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26437029
18.
Intracranial hypotension secondary to spinal arachnoid cyst rupture presenting with acute severe headache: a case report.
J Med Case Rep
; 4: 406, 2010 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-21167026