|Mutations in MBOAT7, encoding lysophosphatidylinositol acyltransferase I, lead to intellectual disability accompanied by epilepsy and autistic features|
A Johansen, RO Rosti, D Musaev, E Sticca, R Harripaul, M Zaki, ...
The American Journal of Human Genetics 99 (4), 912-916, 2016
|Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing|
RM Lardelli, AE Schaffer, VRC Eggens, MS Zaki, S Grainger, S Sathe, ...
Nature genetics 49 (3), 457-464, 2017
|Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes|
S Roosing, M Romani, M Isrie, RO Rosti, A Micalizzi, D Musaev, T Mazza, ...
Journal of medical genetics 53 (9), 608-615, 2016
|Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration|
V Shashi, MM Magiera, D Klein, M Zaki, K Schoch, S Rudnik‐Schöneborn, ...
The EMBO journal 37 (23), e100540, 2018
|Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration|
AE Schaffer, MW Breuss, AO Caglayan, N Al-Sanaa, HY Al-Abdulwahed, ...
Nature genetics 50 (8), 1093-1101, 2018
|Autosomal-recessive mutations in the tRNA splicing endonuclease subunit TSEN15 cause pontocerebellar hypoplasia and progressive microcephaly|
MW Breuss, T Sultan, KN James, RO Rosti, E Scott, D Musaev, B Furia, ...
The American Journal of Human Genetics 99 (1), 228-235, 2016
|Autism risk in offspring can be assessed through quantification of male sperm mosaicism|
MW Breuss, D Antaki, RD George, M Kleiber, KN James, LL Ball, O Hong, ...
Nature medicine 26 (1), 143-150, 2020
|Brd4 and P300 confer transcriptional competency during zygotic genome activation|
SH Chan, Y Tang, L Miao, H Darwich-Codore, CE Vejnar, JD Beaudoin, ...
Developmental cell 49 (6), 867-881. e8, 2019
|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), 330-339, 2018
|Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome|
RO Rosti, BN Sotak, SL Bielas, G Bhat, JL Silhavy, AD Aslanger, ...
Journal of medical genetics 54 (6), 399-403, 2017
|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
|A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features|
I Marin-Valencia, G Novarino, A Johansen, B Rosti, MY Issa, D Musaev, ...
Journal of medical genetics 55 (1), 48-54, 2018
|Homozygous mutations in TBC1D23 lead to a non-degenerative form of pontocerebellar hypoplasia|
I Marin-Valencia, A Gerondopoulos, MS Zaki, T Ben-Omran, M Almureikhi, ...
The American Journal of Human Genetics 101 (3), 441-450, 2017
|Hypomorphic recessive variants in SUFU impair the sonic hedgehog pathway and cause Joubert syndrome with cranio-facial and skeletal defects|
R De Mori, M Romani, S D’Arrigo, MS Zaki, E Lorefice, S Tardivo, ...
The American Journal of Human Genetics 101 (4), 552-563, 2017
|Biallelic mutations in TMTC3, encoding a transmembrane and TPR-containing protein, lead to cobblestone lissencephaly|
J Jerber, MS Zaki, JY Al-Aama, RO Rosti, T Ben-Omran, E Dikoglu, ...
The American Journal of Human Genetics 99 (5), 1181-1189, 2016
|Genome wide analysis of 3′ UTR sequence elements and proteins regulating mRNA stability during maternal-to-zygotic transition in zebrafish|
CE Vejnar, MA Messih, CM Takacs, V Yartseva, P Oikonomou, ...
Genome research 29 (7), 1100-1114, 2019
|Extending the mutation spectrum for Galloway–Mowat syndrome to include homozygous missense mutations in the WDR73 gene|
RO Rosti, E Dikoglu, MS Zaki, G Abdel‐Salam, N Makhseed, JC Sese, ...
American Journal of Medical Genetics Part A 170 (4), 992-998, 2016
|Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function|
M Zilmer, AC Edmondson, SA Khetarpal, V Alesi, MS Zaki, K Rostasy, ...
Brain 143 (4), 1114-1126, 2020
|Loss of SMPD4 causes a developmental disorder characterized by microcephaly and congenital arthrogryposis|
P Magini, DJ Smits, L Vandervore, R Schot, M Columbaro, E Kasteleijn, ...
The American Journal of Human Genetics 105 (4), 689-705, 2019
|Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy|
J Friedman, DE Smith, MY Issa, V Stanley, R Wang, MI Mendes, ...
Nature communications 10 (1), 1-10, 2019