Search details
1.
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Genet Med
; 22(8): 1338-1347, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32424177
2.
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Am J Hum Genet
; 98(2): 373-81, 2016 Feb 04.
Article
in English
| MEDLINE | ID: mdl-26833328
3.
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
PLoS Genet
; 10(3): e1004258, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24676022
4.
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Hum Mutat
; 35(7): 779-90, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24692096
5.
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.
BMC Med Genet
; 15: 128, 2014 Dec 04.
Article
in English
| MEDLINE | ID: mdl-25472632
6.
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome.
Eur J Pediatr
; 173(12): 1741-4, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25388409
7.
Strain background influences neurotoxicity and behavioral abnormalities in mice expressing the tetracycline transactivator.
J Neurosci
; 32(31): 10574-86, 2012 Aug 01.
Article
in English
| MEDLINE | ID: mdl-22855807
8.
High resolution whole brain imaging of anatomical variation in XO, XX, and XY mice.
Neuroimage
; 83: 962-8, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-23891883
9.
Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.
Am J Med Genet A
; 161A(12): 2953-63, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-24123848
10.
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
11.
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.
Neurogenetics
; 13(4): 333-9, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22890812
12.
Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.
PLoS Genet
; 5(12): e1000759, 2009 Dec.
Article
in English
| MEDLINE | ID: mdl-20011118
13.
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.
Article
in English
| MEDLINE | ID: mdl-19914906
14.
Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes.
Sci Rep
; 11(1): 11295, 2021 05 28.
Article
in English
| MEDLINE | ID: mdl-34050248
15.
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
16.
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
17.
Genotype, phenotype, and karyotype correlation in the XO mouse model of Turner Syndrome.
J Hered
; 99(5): 512-7, 2008.
Article
in English
| MEDLINE | ID: mdl-18499648
18.
Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.
Am J Med Genet A
; 155A(6): 1465-8, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21567909
19.
Transgene correction maintains normal cochlear structure and function in 6-month-old Myo15a mutant mice.
Hear Res
; 214(1-2): 37-44, 2006 Apr.
Article
in English
| MEDLINE | ID: mdl-16580798
20.
Triangulating the sexually dimorphic brain through high-resolution neuroimaging of murine sex chromosome aneuploidies.
Brain Struct Funct
; 220(6): 3581-93, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-25146308