Detalhe da pesquisa
1.
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Cell
; 168(5): 830-842.e7, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28235197
2.
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
Am J Hum Genet
; 111(5): 841-862, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38593811
3.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Cell
; 146(6): 889-903, 2011 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21925314
4.
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Am J Hum Genet
; 109(10): 1932-1943, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36206744
5.
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
Am J Hum Genet
; 108(1): 134-147, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340455
6.
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Genet Med
; 26(6): 101102, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38431799
7.
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
Am J Hum Genet
; 106(5): 717-725, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32330417
8.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Genet Med
; 25(7): 100835, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36999555
9.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Brain
; 145(8): 2687-2703, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35675510
10.
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Hum Mutat
; 43(4): 461-470, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35094443
11.
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.
N Engl J Med
; 381(1): 25-35, 2019 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31269546
12.
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.
Genet Med
; 24(12): 2444-2452, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36107167
13.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906456
14.
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Am J Med Genet A
; 188(6): 1868-1874, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35194938
15.
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.
Am J Med Genet A
; 188(7): 2198-2203, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396900
16.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Am J Med Genet A
; 188(12): 3492-3504, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36135330
17.
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.
Lancet
; 396(10252): 684-692, 2020 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891212
18.
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
N Engl J Med
; 379(22): 2131-2139, 2018 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304647
19.
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.
Genet Med
; 23(12): 2443-2447, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34341520
20.
Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings.
Genomics
; 112(5): 2937-2941, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32387503