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1.
Human T cell generation is restored in CD3δ severe combined immunodeficiency through adenine base editing.
Cell
; 186(7): 1398-1416.e23, 2023 03 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-36944331
2.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Cell
; 146(6): 889-903, 2011 Sep 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-21925314
3.
The Role of Preprocedure Genetic Counseling in Pregnancies Interrupted for Fetal Abnormalities.
Am J Perinatol
; 41(4): 383-394, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38154468
4.
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
Mol Cell
; 59(6): 956-69, 2015 Sep 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-26365382
5.
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
Am J Med Genet A
; 185(5): 1430-1436, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33683022
6.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet Med
; 21(8): 1797-1807, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30679821
7.
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Am J Hum Genet
; 95(2): 173-82, 2014 Aug 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-25087610
8.
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
Genome Res
; 23(9): 1395-409, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23657883
9.
Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.
PLoS Genet
; 9(9): e1003797, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-24086149
10.
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Hum Mol Genet
; 21(15): 3345-55, 2012 Aug 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-22543972
11.
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
Genome Res
; 21(1): 33-46, 2011 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21205869
12.
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.
Am J Hum Genet
; 87(6): 857-65, 2010 Dec 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-21109226
13.
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Hum Mutat
; 33(1): 165-79, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21948486
14.
Evidence-based review of genomic aberrations in diffuse large B cell lymphoma, not otherwise specified (DLBCL, NOS): Report from the cancer genomics consortium lymphoma working group.
Cancer Genet
; 268-269: 1-21, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35970109
15.
High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.
BMC Med Genet
; 12: 154, 2011 Nov 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-22118685
16.
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
J Med Genet
; 47(5): 332-41, 2010 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-19914906
17.
Detection of clinically relevant exonic copy-number changes by array CGH.
Hum Mutat
; 31(12): 1326-42, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-20848651
18.
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.
Am J Med Genet A
; 152A(11): 2854-60, 2010 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-20979191
19.
Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.
Am J Med Genet A
; 152A(5): 1111-26, 2010 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-20340098
20.
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Hum Genet
; 126(4): 589-602, 2009 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-19557438