|Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis|
GV Harlalka, A Lehman, B Chioza, EL Baple, R Maroofian, H Cross, ...
Brain 136 (12), 3618-3624, 2013
|Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents|
D Yan, D Tekin, G Bademci, J Foster, FB Cengiz, A Kannan-Sundhari, ...
Human genetics 135 (8), 953-961, 2016
|Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73|
RN Jinks, EG Puffenberger, E Baple, B Harding, P Crino, AB Fogo, ...
Brain 138 (8), 2173-2190, 2015
|PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment|
M Zollo, M Ahmed, V Ferrucci, V Salpietro, F Asadzadeh, M Carotenuto, ...
Brain 140 (4), 940-952, 2017
|Mutations in INPP5K cause a form of congenital muscular dystrophy overlapping Marinesco-SjŲgren syndrome and dystroglycanopathy|
DPS Osborn, HL Pond, N Mazaheri, J Dejardin, CJ Munn, K Mushref, ...
The American Journal of Human Genetics 100 (3), 537-545, 2017
|Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures|
EL Baple, R Maroofian, BA Chioza, M Izadi, HE Cross, S Al-Turki, ...
The American Journal of Human Genetics 94 (1), 87-94, 2014
|Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia|
N Oosterhof, IJ Chang, EG Karimiani, LE Kuil, DM Jensen, R Daza, ...
The American Journal of Human Genetics 104 (5), 936-947, 2019
|Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder|
MM Alves, D Halim, R Maroofian, BM De Graaf, R Rooman, ...
European Journal of Human Genetics 24 (11), 1627, 2016
|Biallelic variants in KIF14 cause intellectual disability with microcephaly|
P Makrythanasis, R Maroofian, A Stray-Pedersen, D Musaev, MS Zaki, ...
European Journal of Human Genetics 26 (3), 330, 2018
|Genetic, phenotypic, and interferon biomarker status in ADAR1-related neurological disease|
GI Rice, N Kitabayashi, M Barth, TA Briggs, ACE Burton, ML Carpanelli, ...
Neuropediatrics 48 (03), 166-184, 2017
|Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy|
E Petropoulou, M Soltani, AD Firoozabadi, SM Namayandeh, J Crockford, ...
European journal of medical genetics 60 (9), 485-488, 2017
|Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome|
SG Ghosh, K Becker, H Huang, TD Salazar, G Chai, V Salpietro, ...
The American Journal of Human Genetics 103 (3), 431-439, 2018
|Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy|
DC Pant, I Dorboz, A Schluter, S Fourcade, N Launay, J Joya, ...
The Journal of clinical investigation 129 (3), 1240-1256, 2019
|Novel EYA1 variants causing Branchio-oto-renal syndrome|
KD Klingbeil, CM Greenland, S Arslan, AL Paneque, H Gurkan, SD Ulusal, ...
International journal of pediatric otorhinolaryngology 98, 59-63, 2017
|Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation|
M Karakaya, N Mazaheri, I Polat, D Bharucha-Goebel, S Donkervoort, ...
Brain 140 (10), e65-e65, 2017
|Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy|
HJ McMillan, A Telegrafi, A Singleton, MT Cho, D Lelli, FC Lynn, J Griffin, ...
Orphanet journal of rare diseases 13 (1), 86, 2018
|SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects|
J Dubail, C Huber, S Chantepie, S Sonntag, B TŁysŁz, E Mihci, ...
Nature communications 9 (1), 3087, 2018
|Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration|
V Muto, E Flex, Z Kupchinsky, G Primiano, H Galehdari, M Dehghani, ...
Neurology 91 (4), e319-e330, 2018
|A Genotype-First Approach for Clinical and Genetic Evaluation of Wolcott-Rallison Syndrome in a Large Cohort of Iranian Children With Neonatal Diabetes|
F Abbasi, M Habibi, S Enayati, F Bitarafan, M Razzaghy-Azar, A Sotodeh, ...
Canadian journal of diabetes 42 (3), 272-275, 2018
|Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging|
AR Jeffries, R Maroofian, CG Salter, BA Chioza, HE Cross, MA Patton, ...
Genome research, gr. 243584.118, 2019