Search details
1.
Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.
Cell
; 168(5): 789-800.e10, 2017 02 23.
Article
in English
| MEDLINE | ID: mdl-28235196
2.
Polymorphisms in IFIH1: the good and the bad.
Nat Immunol
; 18(7): 708-709, 2017 06 20.
Article
in English
| MEDLINE | ID: mdl-28632717
3.
Molecular requirements for human lymphopoiesis as defined by inborn errors of immunity.
Stem Cells
; 39(4): 389-402, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33400834
4.
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts.
Proc Natl Acad Sci U S A
; 114(4): E514-E523, 2017 01 24.
Article
in English
| MEDLINE | ID: mdl-28069966
5.
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.
Proc Natl Acad Sci U S A
; 113(51): E8277-E8285, 2016 12 20.
Article
in English
| MEDLINE | ID: mdl-27930337
6.
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
Hum Mutat
; 36(5): 562-8, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25754594
7.
XX males SRY negative: a confirmed cause of infertility.
J Med Genet
; 48(10): 710-2, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-21653197
8.
Cognitive and behavioral phenotype of a young man with a chromosome 13 deletion del(13)(q21.32q31.1).
Cogn Behav Neurol
; 25(3): 154-8, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22960441
9.
A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield: Results from the Perth CVID Cohort Study.
J Mol Diagn
; 24(6): 586-599, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35570134
10.
Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.
Am J Med Genet A
; 155A(11): 2681-7, 2011 Nov.
Article
in English
| MEDLINE | ID: mdl-21965167
11.
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A.
J Exp Med
; 218(10)2021 10 04.
Article
in English
| MEDLINE | ID: mdl-34387651
12.
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.
Hum Genet
; 128(4): 373-82, 2010 Oct.
Article
in English
| MEDLINE | ID: mdl-20623358
13.
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.
Nat Genet
; 52(12): 1364-1372, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33230297
14.
IRF4 haploinsufficiency in a family with Whipple's disease.
Elife
; 72018 03 14.
Article
in English
| MEDLINE | ID: mdl-29537367
15.
Type I interferon-mediated autoinflammation due to DNase II deficiency.
Nat Commun
; 8(1): 2176, 2017 12 19.
Article
in English
| MEDLINE | ID: mdl-29259162
16.
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
Eur J Hum Genet
; 23(3): 354-62, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-24848745
17.
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.
Neurology
; 82(22): 1990-8, 2014 Jun 03.
Article
in English
| MEDLINE | ID: mdl-24808015
18.
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene.
Eur J Med Genet
; 56(10): 551-5, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23999105
19.
MEF2C deletions and mutations versus duplications: a clinical comparison.
Eur J Med Genet
; 56(5): 260-5, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23402836
20.
Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm.
Case Rep Genet
; 2013: 978087, 2013.
Article
in English
| MEDLINE | ID: mdl-23984122