Detalhe da pesquisa
1.
Functional sensory circuits built from neurons of two species.
Cell
; 187(9): 2143-2157.e15, 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38670072
2.
Developmental and temporal characteristics of clonal sperm mosaicism.
Cell
; 184(18): 4772-4783.e15, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34388390
3.
Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations.
Genet Med
; 26(1): 101006, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37869996
4.
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Am J Hum Genet
; 106(4): 484-495, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32220290
5.
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
Am J Hum Genet
; 105(4): 844-853, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585108
6.
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
Am J Hum Genet
; 105(4): 719-733, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31564432
7.
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.
Am J Hum Genet
; 103(2): 296-304, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30032983
8.
Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report.
Am J Med Genet A
; 185(7): 2126-2130, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749980
9.
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Am J Hum Genet
; 100(4): 676-688, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28343629
10.
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.
Genet Med
; 22(6): 1040-1050, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32103185
11.
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
J Med Genet
; 56(5): 332-339, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30487245
12.
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.
Hum Mol Genet
; 26(2): 258-269, 2017 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28013290
13.
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
Am J Hum Genet
; 99(1): 228-35, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392077
14.
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Hum Genet
; 137(9): 753-768, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30167850
15.
Neonatal familial hemophagocytic lymphohistiocytosis diagnosed with ultrarapid whole-genome sequencing.
Pediatr Blood Cancer
; 70(1): e29871, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35796407
16.
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
Am J Hum Genet
; 99(3): 785, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588454
17.
Novel variants in TECRL leading to catecholaminergic polymorphic ventricular tachycardia.
Life Sci Alliance
; 7(8)2024 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-38777371
18.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Science
; 384(6695): 584-590, 2024 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38696583
19.
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Nat Genet
; 55(2): 209-220, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36635388
20.
Expanding the genotypic spectrum of ACTG2-related visceral myopathy.
Cold Spring Harb Mol Case Stud
; 7(3)2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33883208