Search details
1.
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Am J Hum Genet
; 106(2): 272-279, 2020 02 06.
Article
in English
| MEDLINE | ID: mdl-32004445
2.
Co-occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager.
Am J Med Genet A
; 191(5): 1430-1433, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36808868
3.
SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.
Am J Med Genet A
; 191(5): 1447-1458, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36861937
4.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34906456
5.
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
Am J Med Genet A
; 188(8): 2389-2396, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35567597
6.
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Genet Med
; 23(7): 1202-1210, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33674768
7.
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Am J Med Genet A
; 185(8): 2445-2454, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34032352
8.
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med
; 22(11): 1920, 2020 Nov.
Article
in English
| MEDLINE | ID: mdl-32814847
9.
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
Am J Med Genet C Semin Med Genet
; 181(4): 658-681, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31828977
10.
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med
; 21(4): 850-860, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30245513
11.
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Hum Mutat
; 39(5): 621-634, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29392890
12.
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Hum Mutat
; 39(9): 1246-1261, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29924900
13.
Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.
Am J Med Genet A
; 155A(3): 508-18, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-21344641
14.
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
Eur J Hum Genet
; 29(9): 1384-1395, 2021 09.
Article
in English
| MEDLINE | ID: mdl-33594261
15.
Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd.
Eur J Med Genet
; 63(2): 103657, 2020 Feb.
Article
in English
| MEDLINE | ID: mdl-31026592
16.
Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes.
Arch Dis Child
; 105(4): 384-389, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31481360
17.
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.
Eur J Med Genet
; 62(1): 27-34, 2019 Jan.
Article
in English
| MEDLINE | ID: mdl-29698805
18.
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Orphanet J Rare Dis
; 13(1): 120, 2018 07 19.
Article
in English
| MEDLINE | ID: mdl-30025539
19.
Extreme phenotypes of Loeys Dietz syndrome.
Clin Dysmorphol
; 26(2): 91-94, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28225382
20.
Rare XXY/XX mosaicism in a phenotypic male presenting as cystic hygroma in the first trimester.
Clin Dysmorphol
; 26(2): 107-109, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-27576022