Search details
1.
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.
Hum Mol Genet
; 31(18): 3083-3094, 2022 09 10.
Article
in English
| MEDLINE | ID: mdl-35512351
2.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 338-355, 2020 03 05.
Article
in English
| MEDLINE | ID: mdl-32109419
3.
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.
Am J Med Genet A
; 191(3): 776-785, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36537114
4.
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Am J Hum Genet
; 104(5): 835-846, 2019 05 02.
Article
in English
| MEDLINE | ID: mdl-30982613
5.
Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive.
Clin Genet
; 101(4): 403-410, 2022 04.
Article
in English
| MEDLINE | ID: mdl-34988996
6.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet Med
; 23(11): 2138-2149, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34244665
7.
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Clin Genet
; 100(5): 573-600, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34374989
8.
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.
Clin Genet
; 99(4): 513-518, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33354762
9.
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genet Med
; 22(5): 867-877, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31949313
10.
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genet Med
; 22(5): 980, 2020 May.
Article
in English
| MEDLINE | ID: mdl-32203228
11.
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Mol Genet Metab
; 131(1-2): 135-146, 2020.
Article
in English
| MEDLINE | ID: mdl-33342467
12.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta Neuropathol
; 139(3): 415-442, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31820119
13.
Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11ß-hydroxysteroid dehydrogenase type 2 deficiency.
Proc Natl Acad Sci U S A
; 114(52): E11248-E11256, 2017 12 26.
Article
in English
| MEDLINE | ID: mdl-29229831
14.
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.
Hum Mutat
; 40(2): 142-161, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30461124
15.
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
Hum Mutat
; 40(3): 267-280, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30520571
16.
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
Hum Mutat
; 39(4): 461-470, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29282788
17.
Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.
Hum Mol Genet
; 25(10): 1923-1933, 2016 05 15.
Article
in English
| MEDLINE | ID: mdl-26911677
18.
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.
Mol Genet Metab
; 124(2): 161-167, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29685658
19.
A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family.
Am J Med Genet A
; 176(9): 1996-2003, 2018 09.
Article
in English
| MEDLINE | ID: mdl-30055085
20.
Oral D-galactose supplementation in PGM1-CDG.
Genet Med
; 19(11): 1226-1235, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28617415