Search details
1.
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Cell
; 168(5): 830-842.e7, 2017 02 23.
Article
in English
| MEDLINE | ID: mdl-28235197
2.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Cell
; 146(6): 889-903, 2011 Sep 16.
Article
in English
| MEDLINE | ID: mdl-21925314
3.
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.
J Med Genet
; 60(6): 547-556, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36150828
4.
Pediatric autoimmune myelofibrosis: Experience from a large pediatric tertiary care center.
Pediatr Blood Cancer
; 70(4): e30144, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36661251
5.
Myxoid Dermatofibrosarcoma Protuberans of the Vulva: Case Report of a Rare Variant in an Unusual Location, With Unusual Morphologic and Immunohistochemical Features.
Am J Dermatopathol
; 38(3): 226-30, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26355764
6.
Copy number and SNP arrays in clinical diagnostics.
Annu Rev Genomics Hum Genet
; 12: 25-51, 2011.
Article
in English
| MEDLINE | ID: mdl-21801020
7.
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
Genome Res
; 21(1): 33-46, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21205869
8.
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Hum Mol Genet
; 20(10): 1975-88, 2011 May 15.
Article
in English
| MEDLINE | ID: mdl-21355048
9.
Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.
J Med Genet
; 49(11): 681-8, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-23042811
10.
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Am J Hum Genet
; 84(6): 780-91, 2009 Jun.
Article
in English
| MEDLINE | ID: mdl-19500772
11.
WDR62 missense mutation in a consanguineous family with primary microcephaly.
Am J Med Genet A
; 158A(3): 622-5, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22308068
12.
De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.
Am J Med Genet A
; 158A(10): 2557-63, 2012 Oct.
Article
in English
| MEDLINE | ID: mdl-22903639
13.
Adult acute myeloid leukemia patients with NUP98 rearrangement have frequent cryptic translocations and unfavorable outcome.
Leuk Lymphoma
; 63(8): 1907-1916, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35258401
14.
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.
Mol Genet Metab
; 103(3): 262-7, 2011 Jul.
Article
in English
| MEDLINE | ID: mdl-21478040
15.
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.
J Hum Genet
; 56(12): 834-9, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-22011815
16.
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
Hum Mutat
; 31(7): 840-50, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20506139
17.
Detection of clinically relevant exonic copy-number changes by array CGH.
Hum Mutat
; 31(12): 1326-42, 2010 Dec.
Article
in English
| MEDLINE | ID: mdl-20848651
18.
Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome.
Am J Med Genet A
; 149A(12): 2723-30, 2009 Dec.
Article
in English
| MEDLINE | ID: mdl-19938085
19.
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.
Hum Mutat
; 29(9): 1100-7, 2008 Sep.
Article
in English
| MEDLINE | ID: mdl-18752307
20.
Consensus characterization of 16 FMR1 reference materials: a consortium study.
J Mol Diagn
; 10(1): 2-12, 2008 Jan.
Article
in English
| MEDLINE | ID: mdl-18165276