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1.
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
J Am Soc Nephrol
; 33(2): 305-325, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34607911
2.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Am J Hum Genet
; 104(3): 530-541, 2019 03 07.
Article
in English
| MEDLINE | ID: mdl-30827496
3.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(1): 139-156, 2019 01 03.
Article
in English
| MEDLINE | ID: mdl-30595372
4.
Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling.
Am J Kidney Dis
; 73(3): 400-403, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30241959
5.
Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT).
Kidney Int
; 93(5): 1142-1153, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29459093
6.
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
7.
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
Am J Hum Genet
; 97(6): 904-13, 2015 Dec 03.
Article
in English
| MEDLINE | ID: mdl-26637980
8.
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Pediatr Nephrol
; 33(10): 1701-1712, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29974258
9.
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
J Med Genet
; 54(6): 371-380, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28289185
10.
A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations.
J Am Soc Nephrol
; 28(10): 3118-3128, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28674042
11.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(2): 357, 2019 Feb 07.
Article
in English
| MEDLINE | ID: mdl-30735662
12.
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
Ophthalmology
; 124(7): 992-1003, 2017 07.
Article
in English
| MEDLINE | ID: mdl-28412069
13.
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.
Kidney Int
; 89(2): 476-86, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26489027
14.
Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case-control study.
Birth Defects Res A Clin Mol Teratol
; 106(7): 596-603, 2016 Jul.
Article
in English
| MEDLINE | ID: mdl-27040999
15.
AGORA, a data- and biobank for birth defects and childhood cancer.
Birth Defects Res A Clin Mol Teratol
; 106(8): 675-84, 2016 Aug.
Article
in English
| MEDLINE | ID: mdl-27150573
16.
Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.
PLoS Genet
; 9(3): e1003360, 2013.
Article
in English
| MEDLINE | ID: mdl-23516378
17.
Letter to the editor in reponse to Louboutin, Wascher, and Neyret in management of patellar problems in skeletally mature patients with nail-patella syndrome. KSSTA 2017 Oct;25(10):3012-3016. https://doi.org/10.1007/s00167-016-4044-y. Epub 2016 Feb 12.
Knee Surg Sports Traumatol Arthrosc
; 29(3): 1006-1007, 2021 03.
Article
in English
| MEDLINE | ID: mdl-29594322
18.
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.
Am J Hum Genet
; 90(3): 426-33, 2012 Mar 09.
Article
in English
| MEDLINE | ID: mdl-22341970
19.
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.
Am J Hum Genet
; 90(2): 290-4, 2012 Feb 10.
Article
in English
| MEDLINE | ID: mdl-22265017
20.
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
Genet Med
; 17(6): 460-6, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25232846