Search details
1.
Molecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations.
Int J Cancer
; 154(8): 1455-1463, 2024 Apr 15.
Article
in English
| MEDLINE | ID: mdl-38175816
2.
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Hum Genet
; 2024 May 24.
Article
in English
| MEDLINE | ID: mdl-38787418
3.
The pathophysiology of bilateral and multifocal Wilms tumors: What we can learn from the study of predisposition syndromes.
Pediatr Blood Cancer
; 70 Suppl 2: e29984, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36094328
4.
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Am J Hum Genet
; 104(4): 758-766, 2019 04 04.
Article
in English
| MEDLINE | ID: mdl-30929739
5.
Parents' experiences with large-scale sequencing for genetic predisposition in pediatric renal cancer: A qualitative study.
Psychooncology
; 31(10): 1692-1699, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35962481
6.
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.
Nucleic Acids Res
; 48(2): 770-787, 2020 01 24.
Article
in English
| MEDLINE | ID: mdl-31799629
7.
Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and/or nephroblastomatosis: The 30-year SIOP-RTSG experience.
Cancer
; 127(4): 628-638, 2021 02 15.
Article
in English
| MEDLINE | ID: mdl-33146894
8.
Clinical, Pathology, Genetic, and Molecular Features of Colorectal Tumors in Adolescents and Adults 25 Years or Younger.
Clin Gastroenterol Hepatol
; 19(8): 1642-1651.e8, 2021 08.
Article
in English
| MEDLINE | ID: mdl-32585361
9.
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.
Hum Mutat
; 41(10): 1738-1744, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32643838
10.
TRIM28 haploinsufficiency predisposes to Wilms tumor.
Int J Cancer
; 145(4): 941-951, 2019 08 15.
Article
in English
| MEDLINE | ID: mdl-30694527
11.
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.
Genet Med
; 21(3): 572-579, 2019 03.
Article
in English
| MEDLINE | ID: mdl-29907796
12.
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Genet Med
; 21(12): 2723-2733, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31239556
13.
Genetic Cancer Susceptibility in Adolescents and Adults 25 Years or Younger With Colorectal Cancer.
Gastroenterology
; 162(3): 969-974.e6, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34767783
14.
A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease.
Pediatr Blood Cancer
; 64(3)2017 03.
Article
in English
| MEDLINE | ID: mdl-27667142
15.
In Response to: Pediatric Myelodysplastic Syndrome with Germline RRAS Mutation: Expanding the Phenotype of RASopathies.
J Pediatr Hematol Oncol
; 44(2): 69, 2022 03 01.
Article
in English
| MEDLINE | ID: mdl-34935735
16.
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
J Med Genet
; 52(5): 330-7, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25725044
17.
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.
Am J Hum Genet
; 90(3): 426-33, 2012 Mar 09.
Article
in English
| MEDLINE | ID: mdl-22341970
18.
Platelet CD34 expression in a patient with a partial deletion of transcription factor subunit CBFB.
Am J Hematol
; 95(6): E136-E139, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32124467
19.
Experiences of pediatric cancer patients (age 12-18 years) with extensive germline sequencing for cancer predisposition: a qualitative study.
Eur J Hum Genet
; 32(5): 567-575, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38409533
20.
No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation.
J Pediatr Surg
; 59(3): 459-463, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37989646