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1.
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
Am J Hum Genet
; 107(6): 1157-1169, 2020 12 03.
Article
in English
| MEDLINE | ID: mdl-33159883
2.
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Clin Genet
; 104(5): 554-563, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37580112
3.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genet Med
; 23(11): 2150-2159, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34345024
4.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
J Med Genet
; 56(8): 526-535, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30923172
5.
Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations.
Clin Genet
; 95(3): 420-426, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30633342
6.
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Brain
; 141(8): 2299-2311, 2018 08 01.
Article
in English
| MEDLINE | ID: mdl-29985992
7.
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.
J Med Genet
; 55(7): 449-458, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29500247
8.
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
J Med Genet
; 55(3): 205-213, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29223973
9.
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
10.
Unmasking familial CPX by WES and identification of novel clinical signs.
Am J Med Genet A
; 176(12): 2661-2667, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30462376
11.
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
12.
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
Am J Hum Genet
; 92(2): 265-70, 2013 Feb 07.
Article
in English
| MEDLINE | ID: mdl-23312594
13.
KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.
Hum Mol Genet
; 22(12): 2387-99, 2013 Jun 15.
Article
in English
| MEDLINE | ID: mdl-23427148
14.
Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.
Am J Med Genet A
; 167A(3): 504-11, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25572454
15.
A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation.
Am J Med Genet A
; 164A(3): 774-7, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24357529
16.
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Am J Med Genet C Semin Med Genet
; 163C(2): 92-105, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23606591
17.
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
Am J Med Genet A
; 161A(4): 671-8, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23401279
18.
Monoallelic CRMP1 gene variants cause neurodevelopmental disorder.
Elife
; 112022 12 13.
Article
in English
| MEDLINE | ID: mdl-36511780
19.
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
Am J Med Genet A
; 155A(1): 98-105, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21204215
20.
Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.
J Bone Miner Res
; 35(5): 913-919, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31886927