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1.
Evolving Role of CAR T Cell Therapy in First- and Second-Line Treatment of Large B Cell Lymphoma.
Curr Oncol Rep
; 25(11): 1387-1396, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37861914
2.
Tyrosine kinase inhibitors and tumor lysis syndrome in hematologic malignancies: A systemic review.
Eur J Haematol
; 109(2): 166-181, 2022 Aug.
Article
in English
| MEDLINE | ID: mdl-35531791
3.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Genet Med
; 20(4): 435-443, 2018 04.
Article
in English
| MEDLINE | ID: mdl-28771251
4.
Subgroup-specific structural variation across 1,000 medulloblastoma genomes.
Nature
; 488(7409): 49-56, 2012 Aug 02.
Article
in English
| MEDLINE | ID: mdl-22832581
5.
Single cell-derived clonal analysis of human glioblastoma links functional and genomic heterogeneity.
Proc Natl Acad Sci U S A
; 112(3): 851-6, 2015 Jan 20.
Article
in English
| MEDLINE | ID: mdl-25561528
6.
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.
Genet Med
; 19(1): 53-61, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27195815
7.
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
Am J Med Genet A
; 173(10): 2725-2730, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28840640
8.
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
J Med Genet
; 53(12): 812-819, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27489308
9.
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Hum Mol Genet
; 23(10): 2752-68, 2014 May 15.
Article
in English
| MEDLINE | ID: mdl-24381304
10.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Am J Hum Genet
; 92(2): 210-20, 2013 Feb 07.
Article
in English
| MEDLINE | ID: mdl-23332918
11.
MED23-associated refractory epilepsy successfully treated with the ketogenic diet.
Am J Med Genet A
; 170(9): 2421-5, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27311965
12.
Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.
PLoS Genet
; 9(6): e1003523, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23754953
13.
15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.
Hum Mutat
; 36(7): 689-93, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25884337
14.
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.
Hum Mol Genet
; 22(22): 4485-501, 2013 Nov 15.
Article
in English
| MEDLINE | ID: mdl-23813976
15.
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Hum Mol Genet
; 22(10): 2055-66, 2013 May 15.
Article
in English
| MEDLINE | ID: mdl-23393157
16.
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Hum Genet
; 134(2): 191-201, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25432440
17.
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Am J Hum Genet
; 90(1): 133-41, 2012 Jan 13.
Article
in English
| MEDLINE | ID: mdl-22209245
18.
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Am J Hum Genet
; 90(5): 879-87, 2012 May 04.
Article
in English
| MEDLINE | ID: mdl-22503632
19.
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.
Genet Med
; 17(2): 149-57, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25077648
20.
A high-resolution copy-number variation resource for clinical and population genetics.
Genet Med
; 17(9): 747-52, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-25503493