Search details
1.
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
Proc Natl Acad Sci U S A
; 119(15): e2116887119, 2022 04 12.
Article
in English
| MEDLINE | ID: mdl-35377796
2.
Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
Hum Mutat
; 42(7): 811-817, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33993607
3.
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.
Neurogenetics
; 21(1): 67-72, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31823155
4.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Genet Med
; 22(7): 1215-1226, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32376980
5.
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.
J Med Genet
; 55(6): 422-429, 2018 Jun.
Article
in English
| MEDLINE | ID: mdl-29459493
6.
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
PLoS Genet
; 12(3): e1005894, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26967905
7.
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
Am J Med Genet B Neuropsychiatr Genet
; 177(4): 397-405, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29603867
8.
Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review.
Am J Med Genet A
; 173(11): 2923-2946, 2017 Nov.
Article
in English
| MEDLINE | ID: mdl-28948695
9.
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Am J Med Genet A
; 173(2): 435-443, 2017 Feb.
Article
in English
| MEDLINE | ID: mdl-27862890
10.
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Genet Med
; 18(1): 49-56, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-25790162
11.
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Hum Mutat
; 35(9): 1092-100, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24924640
12.
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
J Med Genet
; 50(2): 91-8, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-23339108
13.
Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature.
Clin Nephrol
; 80(6): 456-63, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-22909780
14.
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
Pigment Cell Melanoma Res
; 2023 Aug 31.
Article
in English
| MEDLINE | ID: mdl-37650133
15.
A new case of bent bone dysplasia--FGFR2 type and review of the literature.
Am J Med Genet A
; 170(3): 785-9, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26573129
16.
Severe Phenotype in Patients with Large Deletions of NF1.
Cancers (Basel)
; 13(12)2021 Jun 13.
Article
in English
| MEDLINE | ID: mdl-34199217
17.
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.
Hum Mutat
; 31(6): E1506-18, 2010 Jun.
Article
in English
| MEDLINE | ID: mdl-20513137
18.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Eur J Hum Genet
; 28(10): 1422-1431, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32483341
19.
Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.
Eur J Hum Genet
; 16(12): 1459-66, 2008 Dec.
Article
in English
| MEDLINE | ID: mdl-18648396
20.
A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis.
Eur J Med Genet
; 51(1): 87-91, 2008.
Article
in English
| MEDLINE | ID: mdl-18053786