Detalhe da pesquisa
1.
Developmental and temporal characteristics of clonal sperm mosaicism.
Cell;
184(18): 4772-4783.e15, 2021 09 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34388390
2.
Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain.
Nature;
629(8011): 384-392, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38600385
3.
Somatic mosaicism reveals clonal distributions of neocortical development.
Nature;
604(7907): 689-696, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35444276
4.
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Am J Hum Genet;
108(10): 2017-2023, 2021 10 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34587489
5.
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
Am J Hum Genet;
108(1): 134-147, 2021 01 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33340455
6.
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.
N Engl J Med;
385(14): 1292-1301, 2021 09 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34587386
7.
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.
Brain;
145(4): 1551-1563, 2022 05 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34694367
8.
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.
Proc Natl Acad Sci U S A;
117(18): 10055-10066, 2020 05 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32312822
9.
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
EMBO J;
37(23)2018 12 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30420557
10.
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
Am J Hum Genet;
104(4): 731-737, 2019 04 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30905400
11.
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
12.
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
Am J Hum Genet;
105(5): 1048-1056, 2019 11 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31668703
13.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet;
105(4): 689-705, 2019 10 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31495489
14.
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.
J Med Genet;
58(4): 237-246, 2021 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32439809
15.
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
16.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet;
103(3): 431-439, 2018 09 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30100084
17.
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.
Genet Med;
23(3): 524-533, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33188300
18.
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Genet Med;
23(10): 1933-1943, 2021 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34172899
19.
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Brain;
143(4): 1114-1126, 2020 04 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32293671
20.
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.
J Med Genet;
57(4): 274-282, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31586943