Detalhe da pesquisa
1.
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Cell
; 176(6): 1310-1324.e10, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827684
2.
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Cell
; 168(5): 830-842.e7, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28235197
3.
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
Cell
; 157(3): 636-50, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766809
4.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Cell
; 146(6): 889-903, 2011 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21925314
5.
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Hum Mol Genet
; 29(21): 3516-3531, 2021 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33105479
6.
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
J Inherit Metab Dis
; 46(6): 1195-1205, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37711075
7.
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
Am J Hum Genet
; 98(3): 553-561, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26924530
8.
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Am J Hum Genet
; 99(4): 831-845, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27640307
9.
Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.
PLoS Genet
; 11(12): e1005686, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26641089
10.
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Am J Hum Genet
; 95(2): 143-61, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25065914
11.
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
Genet Med
; 18(5): 443-51, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26378787
12.
Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.
Hum Mol Genet
; 22(4): 749-56, 2013 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23161748
13.
Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.
Am J Hum Genet
; 89(4): 580-8, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21981782
14.
Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.
PLoS Genet
; 7(8): e1002247, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21901111
15.
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
Am J Hum Genet
; 86(3): 462-70, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20188345
16.
Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.
J Allergy Clin Immunol
; 127(6): 1579-86, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21514638
17.
Population bottlenecks as a potential major shaping force of human genome architecture.
PLoS Genet
; 3(7): e119, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17658953
18.
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.
Dev Cell
; 51(6): 713-729.e6, 2019 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31735666
19.
Bridging the gaps: An early integrated support collaborative for at risk mothers in rural Maine.
Work
; 50(3): 413-23, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25672962
20.
Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.
J Clin Endocrinol Metab
; 100(1): E140-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25322266