Search details
1.
The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
Genome Res
; 29(9): 1389-1401, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31481461
2.
Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms.
Dev Med Child Neurol
; 64(5): 633-640, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35830182
3.
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.
Hum Mol Genet
; 26(15): 2838-2849, 2017 08 01.
Article
in English
| MEDLINE | ID: mdl-28449119
4.
Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.
Am J Med Genet C Semin Med Genet
; 178(2): 175-186, 2018 06.
Article
in English
| MEDLINE | ID: mdl-30182442
5.
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
Am J Hum Genet
; 96(5): 753-64, 2015 May 07.
Article
in English
| MEDLINE | ID: mdl-25892112
6.
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
Hum Mol Genet
; 24(15): 4443-53, 2015 Aug 01.
Article
in English
| MEDLINE | ID: mdl-25972376
7.
The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?
Prenat Diagn
; 37(1): 31-36, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-27859447
8.
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Am J Hum Genet
; 93(3): 506-14, 2013 Sep 05.
Article
in English
| MEDLINE | ID: mdl-24011988
9.
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
J Med Genet
; 52(8): 532-40, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-25787132
10.
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Nat Genet
; 39(9): 1071-3, 2007 Sep.
Article
in English
| MEDLINE | ID: mdl-17704777
11.
Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.
Dev Biol
; 396(1): 94-106, 2014 Dec 01.
Article
in English
| MEDLINE | ID: mdl-25281006
12.
Copy number variation at 1q21.1 associated with neuroblastoma.
Nature
; 459(7249): 987-91, 2009 Jun 18.
Article
in English
| MEDLINE | ID: mdl-19536264
13.
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
Am J Med Genet A
; 164A(4): 950-7, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24458743
14.
Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.
Hum Mol Genet
; 20(5): 880-93, 2011 Mar 01.
Article
in English
| MEDLINE | ID: mdl-21147756
15.
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).
Am J Hum Genet
; 87(2): 209-18, 2010 Aug 13.
Article
in English
| MEDLINE | ID: mdl-20673865
16.
Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.
Am J Med Genet A
; 161A(12): 3137-43, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-24038875
17.
Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
Am J Med Genet A
; 161A(3): 527-33, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23401415
18.
High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.
Genome Med
; 15(1): 35, 2023 05 10.
Article
in English
| MEDLINE | ID: mdl-37165454
19.
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.
Article
in English
| MEDLINE | ID: mdl-21948486
20.
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