Damir Musaev
Damir Musaev
Verified email at yale.edu
Title
Cited by
Cited by
Year
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
532016
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
492017
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
482016
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
472018
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
412018
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
412016
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
402020
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
402019
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
402018
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
402017
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
312019
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
302018
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
292017
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
212017
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
212016
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
202019
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
192016
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
162020
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
142019
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
142019
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