Detalhe da pesquisa
1.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet
; 61(2): 132-141, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580113
2.
45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.
Am J Med Genet A
; 194(3): e63451, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37882230
3.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36477332
4.
Prenatal diagnosis of ROR-2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities.
Prenat Diagn
; 44(5): 653-656, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38504427
5.
Validation of low-pass genome sequencing for prenatal diagnosis.
Prenat Diagn
; 44(4): 443-453, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279846
6.
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Prenat Diagn
; 44(4): 422-431, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054560
7.
Revisiting the Implications of a Wide or Narrow Fetal Cavum Septi Pellucidi.
J Ultrasound Med
; 2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38708946
8.
Lung Hypoplasia in Fetuses with Skeletal Dysplasia Determined by Fetal Lung Weight: Which Ultrasound Measurement/Ratio Has the Highest Detection Rate.
Fetal Diagn Ther
; 51(1): 23-29, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37778334
9.
A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus.
Genes Dev
; 30(7): 812-26, 2016 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27013236
10.
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
Am J Hum Genet
; 106(1): 121-128, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883643
11.
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
12.
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Clin Genet
; 103(3): 288-300, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36353900
13.
Risk of Major Malformations Following First-Trimester Exposure to Olanzapine: Preliminary Data From the Massachusetts General Hospital National Pregnancy Registry for Psychiatric Medications.
J Clin Psychopharmacol
; 43(2): 106-112, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36825887
14.
Risk of Major Malformations in Infants After First-Trimester Exposure to Stimulants: Results From the Massachusetts General Hospital National Pregnancy Registry for Psychiatric Medications.
J Clin Psychopharmacol
; 43(4): 326-332, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37235505
15.
De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).
Am J Med Genet A
; 191(6): 1607-1613, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36942595
16.
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.
Am J Med Genet A
; 191(3): 760-769, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36495114
17.
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
Am J Med Genet A
; 191(5): 1282-1292, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36826837
18.
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Am J Med Genet A
; 191(7): 1935-1941, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37031378
19.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Am J Med Genet A
; 191(8): 2113-2131, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377026
20.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Brain
; 145(9): 3308-3327, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35851598