Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Am J Hum Genet
; 110(12): 2112-2119, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37963460
2.
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Hum Mol Genet
; 31(16): 2766-2778, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35348676
3.
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.
Am J Med Genet A
; 191(1): 77-83, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271508
4.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genet Med
; 23(12): 2415-2425, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400813
5.
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
J Med Genet
; 57(12): 808-819, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32409512
6.
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.
Hum Mol Genet
; 32(3): 353-356, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396997
7.
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
Clin Genet
; 98(1): 10-18, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32233106
8.
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Am J Med Genet A
; 182(7): 1576-1591, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32500973
9.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
Am J Hum Genet
; 99(3): 666-673, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27523598
10.
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.
Am J Med Genet A
; 179(7): 1304-1309, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31004414
11.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genet Med
; 24(4): 967, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394429
12.
Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.
Am J Med Genet A
; 173(7): 1858-1865, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28488400
13.
ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.
N Engl J Med
; 369(22): 2105-14, 2013 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-24283224
14.
Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.
Pediatr Blood Cancer
; 63(1): 71-7, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26375764
15.
Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion.
Am J Med Genet A
; 164A(5): 1310-7, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24665034
16.
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Eur J Hum Genet
; 32(2): 190-199, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872275
17.
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.
Life (Basel)
; 13(2)2023 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36836802
18.
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Eur J Hum Genet
; 31(9): 1023-1031, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37344571
19.
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing.
Eur J Hum Genet
; 30(6): 712-720, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35388186
20.
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Nat Genet
; 47(11): 1260-3, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26437028