Detalhe da pesquisa
1.
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Prenat Diagn
; 44(2): 237-246, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632214
2.
X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.
PLoS Genet
; 17(6): e1009608, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161333
3.
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
4.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
; 25(1): 135-142, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399134
5.
Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature.
Am J Med Genet A
; 191(5): 1378-1383, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718996
6.
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Am J Med Genet A
; 191(4): 930-940, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651673
7.
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
8.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Am J Hum Genet
; 104(3): 542-552, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827498
9.
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
10.
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
Am J Hum Genet
; 103(4): 602-611, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30269814
11.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Am J Med Genet A
; 185(6): 1649-1665, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33783954
12.
Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.
J Med Genet
; 56(12): 783-791, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31023718
13.
Ultrasound and Magnetic Resonance Imaging of Agenesis of the Corpus Callosum in Fetuses: Frontal Horns and Cavum Septi Pellucidi Are Clues to Earlier Diagnosis.
J Ultrasound Med
; 39(12): 2389-2403, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32597533
14.
Mutation update for the SATB2 gene.
Hum Mutat
; 40(8): 1013-1029, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31021519
15.
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
Am J Hum Genet
; 98(6): 1256-1265, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27236920
16.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet Med
; 21(8): 1797-1807, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30679821
17.
A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis-lymphedema-telangiectasia syndrome.
Am J Med Genet A
; 176(12): 2824-2828, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30549413
18.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.
Am J Hum Genet
; 104(4): 778, 2019 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929740
19.
Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.
Genet Med
; 19(10): 1179-1183, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28383544
20.
Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.
Am J Med Genet A
; 173(6): 1586-1592, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28386950