Search details
1.
Disruptive CHD8 mutations define a subtype of autism early in development.
Cell
; 158(2): 263-276, 2014 Jul 17.
Article
in English
| MEDLINE | ID: mdl-24998929
2.
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit ß-type 10 in six infants with SCID-Omenn syndrome.
Am J Hum Genet
; 111(4): 791-804, 2024 Apr 04.
Article
in English
| MEDLINE | ID: mdl-38503300
3.
OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition.
J Clin Immunol
; 44(1): 10, 2023 12 22.
Article
in English
| MEDLINE | ID: mdl-38129331
4.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Genet Med
; 23(7): 1246-1254, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33824500
5.
A review on age-related cancer risks in PTEN hamartoma tumor syndrome.
Clin Genet
; 99(2): 219-225, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33140411
6.
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency.
Am J Med Genet A
; 185(7): 2204-2210, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33938610
7.
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Am J Hum Genet
; 100(6): 907-925, 2017 Jun 01.
Article
in English
| MEDLINE | ID: mdl-28575647
8.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Am J Hum Genet
; 98(3): 541-552, 2016 Mar 03.
Article
in English
| MEDLINE | ID: mdl-26942287
9.
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.
Genet Med
; 21(8): 1719-1725, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30568311
10.
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
Hum Mol Genet
; 25(5): 892-902, 2016 Mar 01.
Article
in English
| MEDLINE | ID: mdl-26721934
11.
Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Am J Med Genet A
; 170(3): 670-5, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26842493
12.
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
Am J Hum Genet
; 91(6): 1122-7, 2012 Dec 07.
Article
in English
| MEDLINE | ID: mdl-23159249
13.
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
Am J Hum Genet
; 91(6): 1073-81, 2012 Dec 07.
Article
in English
| MEDLINE | ID: mdl-23176823
14.
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
J Med Genet
; 50(12): 802-11, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-24123876
15.
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
PLoS Genet
; 7(12): e1002427, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-22242004
16.
Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome.
Int Dent J
; 2024 May 01.
Article
in English
| MEDLINE | ID: mdl-38697906
17.
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS).
Cancers (Basel)
; 16(5)2024 Feb 27.
Article
in English
| MEDLINE | ID: mdl-38473316
18.
Clinical significance of de novo and inherited copy-number variation.
Hum Mutat
; 34(12): 1679-87, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-24038936
19.
Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome.
J Natl Cancer Inst
; 115(1): 93-103, 2023 01 10.
Article
in English
| MEDLINE | ID: mdl-36171661
20.
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
J Med Genet
; 48(6): 390-5, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21378380