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.
Somatic mosaicism reveals clonal distributions of neocortical development.
Nature
; 604(7907): 689-696, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35444276
3.
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
4.
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
5.
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
6.
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
Hum Mol Genet
; 28(22): 3755-3765, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31411685
7.
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
8.
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Am J Med Genet A
; 185(1): 119-133, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098347
9.
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
10.
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
Ann Neurol
; 84(5): 638-647, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30178464
11.
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
12.
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
13.
Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission.
Elife
; 112022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35787314
14.
Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families.
BMC Med Genomics
; 13(1): 68, 2020 05 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32404165
15.
Autism risk in offspring can be assessed through quantification of male sperm mosaicism.
Nat Med
; 26(1): 143-150, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31873310
16.
Biallelic variants in KIF14 cause intellectual disability with microcephaly.
Eur J Hum Genet
; 26(3): 330-339, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29343805