Detalhe da pesquisa
1.
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Am J Hum Genet
; 109(11): 2068-2079, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36283405
2.
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Brain
; 146(11): 4547-4561, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37459438
3.
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Genet Med
; 25(4): 100003, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36549593
4.
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Clin Genet
; 102(2): 117-122, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35470444
5.
Further delineation of phenotypic spectrum of SCN2A-related disorder.
Am J Med Genet A
; 188(3): 867-877, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34894057
6.
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
7.
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.
Am J Hum Genet
; 103(1): 100-114, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29979980
8.
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Am J Hum Genet
; 103(5): 786-793, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343942
9.
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Genet Med
; 23(6): 1028-1040, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33658631
10.
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Am J Med Genet A
; 185(8): 2445-2454, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34032352
11.
Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.
Am J Med Genet A
; 182(8): 1939-1943, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32476291
12.
Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos syndrome.
Am J Med Genet A
; 182(3): 553-556, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31833208
13.
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.
Am J Med Genet A
; 182(7): 1637-1654, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319732
14.
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Clin Genet
; 95(6): 693-703, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30859559
15.
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.
Ann Neurol
; 83(6): 1198-1204, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29740868
16.
Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas.
Am J Med Genet A
; 176(1): 253-256, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29159998
17.
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Prenat Diagn
; 38(1): 33-43, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29096039
18.
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
J Am Soc Nephrol
; 28(8): 2529-2539, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28373276
19.
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Am J Hum Genet
; 103(6): 1054-1055, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30526864
20.
Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom.
Genet Med
; 18(9): 876-81, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26890453