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Number of items: 128.
Article
Accogli, Andrea;
Lin, Sheng-Jia;
Severino, Mariasavina;
Kim, Sung-Hoon;
Huang, Kevin;
Rocca, Clarissa;
Landsverk, Megan;
... Maroofian, Reza; + view all
(2023)
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Genetics in Medicine
, 25
(11)
, Article 100938. 10.1016/j.gim.2023.100938.
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Accogli, Andrea;
Zaki, Maha S;
Al-Owain, Mohammed;
Otaif, Mansour Y;
Jackson, Adam;
Argilli, Emanuela;
Chandler, Kate E;
... Maroofian, Reza; + view all
(2023)
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Brain Communications
, 5
(5)
, Article fcad222. 10.1093/braincomms/fcad222.
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Almannai, M;
Marafi, D;
Abdel-Salam, GMH;
Zaki, MS;
Duan, R;
Calame, D;
Herman, I;
... El-Hattab, AW; + view all
(2022)
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
Clinical Genetics
, 101
(5-6)
pp. 530-540.
10.1111/cge.14132.
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Almousa, Hashem;
Lewis, Sara A;
Bakhtiari, Somayeh;
Nordlie, Sandra Hinz;
Pagnozzi, Alex;
Magee, Helen;
Efthymiou, Stephanie;
... Kruer, Michael C; + view all
(2024)
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain
, 147
(1)
10.1093/brain/awad301.
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Appelhof, B;
Wagner, M;
Hoefele, J;
Heinze, A;
Roser, T;
Koch-Hogrebe, M;
Roosendaal, SD;
... Jamra, RA; + view all
(2021)
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
European Journal of Human Genetics
, 29-30
pp. 411-421.
10.1038/s41431-020-00749-x.
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Asadollahi, Reza;
Ahmad, Aisha;
Boonsawat, Paranchai;
Shahanoor Hinzen, Jasmine;
Lohse, Mareike;
Bouazza-Arostegui, Boris;
Sun, Siqi;
... Lipstein, Noa; + view all
(2025)
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Nature Genetics
10.1038/s41588-025-02361-5.
(In press).
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Aughey, Gabriel N;
Cali, Elisa;
Maroofian, Reza;
Zaki, Maha S;
Pagnamenta, Alistair T;
Ali, Zafar;
Abdulllah, Uzma;
... Houlden, Henry; + view all
(2025)
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Brain
, 148
(4)
pp. 1194-1211.
10.1093/brain/awae363.
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Bahena, P;
Daftarian, N;
Maroofian, R;
Linares, P;
Villalobos, D;
Mirrahimi, M;
Rad, A;
... Haaf, T; + view all
(2021)
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
Human Genetics
10.1007/s00439-021-02303-1.
(In press).
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Baple, EL;
Maroofian, R;
Chioza, BA;
Izadi, M;
Cross, HE;
Al-Turki, S;
Barwick, K;
... Crosby, AH; + view all
(2014)
Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures.
The American Journal of Human Genetics
, 94
(1)
pp. 87-94.
10.1016/j.ajhg.2013.10.001.
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Borgia, Paola;
Baldassari, Simona;
Pedemonte, Nicoletta;
Alkhunaizi, Ebba;
D'Onofrio, Gianluca;
Tortora, Domenico;
Cali, Elisa;
... Salpietro, Vincenzo; + view all
(2022)
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Orphanet Journal of Rare Diseases
, 17
(1)
, Article 286. 10.1186/s13023-022-02415-5.
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Bosch, E;
Popp, B;
Güse, E;
Skinner, C;
van der Sluijs, PJ;
Maystadt, I;
Pinto, AM;
... Vasileiou, G; + view all
(2023)
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Genetics in Medicine
, 25
(11)
, Article 100950. 10.1016/j.gim.2023.100950.
(In press).
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Cakar, Arman;
Maroofian, Reza;
Parman, Yesim;
Reilly, Mary M;
Houlden, Henry;
(2024)
Novel and nano-rare genetic causes of paediatric-onset motor neuronopathies.
Brain Communications
, 6
(1)
, Article fcae003. 10.1093/braincomms/fcae003.
(In press).
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Calame, Daniel G;
Herman, Isabella;
Maroofian, Reza;
Marshall, Aren E;
Donis, Karina Carvalho;
Fatih, Jawid M;
Mitani, Tadahiro;
... Lupski, James R; + view all
(2022)
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Annals of Neurology
, 92
(2)
pp. 304-321.
10.1002/ana.26381.
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Calame, DG;
Wong, JH;
Panda, P;
Nguyen, DT;
Leong, NCP;
Sangermano, R;
Patankar, SG;
... Nguyen, LN; + view all
(2025)
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
Genetics in Medicine
, 27
(1)
, Article 101273. 10.1016/j.gim.2024.101273.
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Cali, Elisa;
Suri, Mohnish;
Scala, Marcello;
Ferla, Matteo P;
Alavi, Shahryar;
Faqeih, Eissa Ali;
Bijlsma, Emilia K;
... Maroofian, Reza; + view all
(2022)
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genetics in Medicine
10.1016/j.gim.2022.09.016.
(In press).
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Chelban, Viorica;
Aksnes, Henriette;
Maroofian, Reza;
LaMonica, Lauren C;
Seabra, Luis;
Siggervåg, Anette;
Devic, Perrine;
... Houlden, Henry; + view all
(2024)
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Nature Communications
, 15
, Article 2269. 10.1038/s41467-024-46354-0.
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Chelban, V;
Alsagob, M;
Kloth, K;
Chirita-Emandi, A;
Vandrovcova, J;
Maroofian, R;
Davagnanam, I;
... Kaya, N; + view all
(2019)
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
European Journal of Neurology
10.1111/ene.14082.
(In press).
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Chen, Z;
Maroofian, R;
Başak, AN;
Shingavi, L;
Karakaya, M;
Efthymiou, S;
Gustavsson, EK;
... Sarraf, P; + view all
(2021)
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
European Journal of Neurology
, 28
(4)
pp. 1344-1355.
10.1111/ene.14649.
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Crow, Yanick J;
Marshall, Heather;
Rice, Gillian;
Seabra, Luis;
Jenkinson, Emma M;
Baranano, Kristin;
Battini, Roberta;
... Badrock, Andrew P; + view all
(2021)
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
American Journal of Medical Genetics Part A
, 185
(1)
pp. 15-25.
10.1002/ajmg.a.61907.
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D’Onofrio, G;
Accogli, A;
Severino, M;
Caliskan, H;
Kokotović, T;
Blazekovic, A;
Jercic, KG;
... Nagy, V; + view all
(2023)
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Human Genetics
10.1007/s00439-023-02552-2.
(In press).
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Dafsari, HS;
Pemberton, JG;
Ferrer, EA;
Yammine, T;
Farra, C;
Mohammadi, MH;
Ghayoor Karimiani, E;
... Maroofian, R; + view all
(2022)
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.
Annals of Clinical and Translational Neurology
10.1002/acn3.51634.
(In press).
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De Nittis, P;
Efthymiou, S;
Sarre, A;
Guex, N;
Chrast, J;
Putoux, A;
Sultan, T;
... Reymond, A; + view all
(2020)
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
Journal of Medical Genetics
10.1136/jmedgenet-2020-107015.
(In press).
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De Pace, Raffaella;
Maroofian, Reza;
Paimboeuf, Adeline;
Zamani, Mina;
Zaki, Maha S;
Sadeghian, Saeid;
Azizimalamiri, Reza;
... Bonifacino, Juan S; + view all
(2023)
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
Brain
, 147
(4)
, Article awad427. 10.1093/brain/awad427.
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Del Caño-Ochoa, F;
Ng, BG;
Abedalthagafi, M;
Almannai, M;
Cohn, RD;
Costain, G;
Elpeleg, O;
... Ramón-Maiques, S; + view all
(2020)
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.
Genetics in Medicine
10.1038/s41436-020-0833-2.
(In press).
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Deng, R;
Medico-Salsench, E;
Nikoncuk, A;
Ramakrishnan, R;
Lanko, K;
Kühn, NA;
van der Linde, HC;
... Barakat, TS; + view all
(2023)
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathologica
10.1007/s00401-023-02579-9.
(In press).
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Dias, CM;
Punetha, J;
Zheng, C;
Mazaheri, N;
Rad, A;
Efthymiou, S;
Petersen, A;
... Maroofian, R; + view all
(2019)
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
American Journal of Human Genetics
, 105
(5)
pp. 1048-1056.
10.1016/j.ajhg.2019.09.025.
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Donkervoort, S;
Kutzner, CE;
Hu, Y;
Lornage, X;
Rendu, J;
Stojkovic, T;
Baets, J;
... Bönnemann, CG; + view all
(2020)
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
American Journal of Human Genetics
, 107
(6)
pp. 1078-1095.
10.1016/j.ajhg.2020.11.002.
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Duan, R;
Marafi, D;
Xia, ZJ;
Ng, BG;
Maroofian, R;
Sumya, FT;
Saad, AK;
... Lupski, JR; + view all
(2023)
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Journal of Inherited Metabolic Disease
, 46
(6)
pp. 1195-1205.
10.1002/jimd.12679.
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Dworschak, GC;
Punetha, J;
Kalanithy, JC;
Mingardo, E;
Erdem, HB;
Akdemir, ZC;
Karaca, E;
... Reutter, H; + view all
(2021)
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genetics in Medicine
10.1038/s41436-021-01196-9.
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Efthymiou, Stephanie;
Dutra-Clarke, Marina;
Maroofian, Reza;
Kaiyrzhanov, Rauan;
Scala, Marcello;
Reza Alvi, Javeria;
Sultan, Tipu;
... Houlden, Henry; + view all
(2021)
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.
Epilepsia
, 62
(2)
e35-e41.
10.1111/epi.16801.
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Efthymiou, Stephanie;
Scala, Marcello;
Nagaraj, Vini;
Ochenkowska, Katarzyna;
Komdeur, Fenne L;
Liang, Robin A;
Abdel-Hamid, Mohamed S;
... McClenaghan, Conor; + view all
(2024)
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Brain
, 147
(5)
pp. 1822-1836.
10.1093/brain/awae010.
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Efthymiou, S;
Breza, M;
Bourinaris, T;
Maroofian, R;
Athanasiou-Fragkouli, A;
Tzartos, J;
Velonakis, G;
... Houlden, H; + view all
(2020)
A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.
Brain: A Journal of Neurology
, 143
(6)
, Article e49. 10.1093/brain/awaa120.
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Efthymiou, S;
Herman, I;
Rahman, F;
Anwar, N;
Maroofian, R;
Yip, J;
Mitani, T;
... Houlden, H; + view all
(2021)
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
American Journal of Medical Genetics Part A
, 185
(7)
pp. 2241-2249.
10.1002/ajmg.a.62221.
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Efthymiou, S;
Salpietro, V;
Malintan, N;
Poncelet, M;
Kriouile, Y;
Fortuna, S;
De Zorzi, R;
... Houlden, H; + view all
(2019)
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Brain
, 142
(10)
pp. 2948-2964.
10.1093/brain/awz248.
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El Hayek, L;
Tuncay, IO;
Nijem, N;
Russell, J;
Ludwig, S;
Kaur, K;
Li, X;
... Chahrour, MH; + view all
(2020)
KDM5A mutations identified in autism spectrum disorder using forward genetics.
eLife
, 9
, Article e56883. 10.7554/eLife.56883.
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El-Dessouky, Sara H;
Sharaf-Eldin, Wessam E;
Aboulghar, Mona M;
Mousa, Hatem A;
Zaki, Maha S;
Maroofian, Reza;
Senousy, Sameh M;
... Abdalla, Ebtesam M; + view all
(2025)
Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort.
Clinical Genetics
10.1111/cge.14712.
(In press).
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Engal, E;
Oja, KT;
Maroofian, R;
Geminder, O;
Le, TL;
Marzin, P;
Guimier, A;
... Mor-Shaked, H; + view all
(2023)
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
American Journal of Human Genetics
, 110
(12)
pp. 2112-2119.
10.1016/j.ajhg.2023.10.013.
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Engel, Camille;
Valence, Stéphanie;
Delplancq, Geoffroy;
Maroofian, Reza;
Accogli, Andrea;
Agolini, Emanuele;
Alkuraya, Fowzan S;
... Piard, Juliette; + view all
(2023)
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
European Journal of Human Genetics
, 31
pp. 1023-1031.
10.1038/s41431-023-01410-z.
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German, Hannah M;
Zaki, Maha S;
Usmani, Muhammad A;
Karagoz, Irem;
Efthymiou, Stephanie;
Abdel-Hamid, Mohamed S;
Arabiyat, Haya Abdelhafez;
... Maroofian, Reza; + view all
(2025)
Comprehensive Genotypic, Phenotypic, and Biochemical Characterization of GOT2 Deficiency: A Progressive Neurodevelopmental Disorder with Epilepsy and Abnormal Movements.
Genetics in Medicine
, Article 101587. 10.1016/j.gim.2025.101587.
(In press).
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Ghosh, Saikat;
Singh, Jaskaran;
Damseh, Nadirah S;
Severino, Mariasavina;
De Pace, Raffaella;
Golding, Adriana E;
Jarnik, Michal;
... Bonifacino, Juan S; + view all
(2025)
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.
Brain
10.1093/brain/awaf371.
(In press).
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Ghosh, SG;
Becker, K;
Huang, H;
Dixon-Salazar, T;
Chai, G;
Salpietro, V;
Al-Gazali, L;
... Gleeson, JG; + view all
(2018)
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
American Journal of Human Genetics
, 103
(5)
pp. 431-439.
10.1016/j.ajhg.2018.07.010.
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Hedberg-Oldfors, C;
Abramsson, A;
Osborn, DPS;
Danielsson, O;
Fazlinezhad, A;
Nilipour, Y;
Hübbert, L;
... Jamshidi, Y; + view all
(2019)
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.
Human Molecular Genetics
, 28
(11)
pp. 1919-1929.
10.1093/hmg/ddz032.
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Hengel, H;
Hannan, SB;
Dyack, S;
MacKay, SB;
Schatz, U;
Fleger, M;
Kurringer, A;
... Schöls, L; + view all
(2021)
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
American Journal of Human Genetics
, 108
(6)
pp. 1069-1082.
10.1016/j.ajhg.2021.04.024.
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Hildonen, M;
Ciolfi, A;
Ferilli, M;
Cappelletti, C;
Al Alam, C;
Amor, DJ;
Barakat, TS;
... Tartaglia, M; + view all
(2025)
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.
European Journal of Human Genetics
, 33
pp. 896-903.
10.1038/s41431-025-01876-z.
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Husain, Ralf A;
Jiao, Xinfu;
Hennings, J Christopher;
Giesecke, Jan;
Palsule, Geeta;
Beck-Wödl, Stefanie;
Osmanović, Dina;
... Rubio, Ignacio; + view all
(2024)
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Brain
, 147
(4)
pp. 1197-1205.
10.1093/brain/awad434.
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Iqbal, M;
Maroofian, R;
Cavdarli, B;
Riccardi, F;
Field, M;
Banka, S;
Bubshait, DK;
... Yigit, G; + view all
(2021)
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genetics in Medicine
10.1038/s41436-021-01260-4.
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Jacob, Maureen;
Kölbel, Heike;
Harrer, Philip;
Kopajtich, Robert;
Munot, Pinki;
Achleitner, Melanie T;
Badmann, Susann;
... Wagner, Matias; + view all
(2025)
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Brain
, Article awaf227. 10.1093/brain/awaf227.
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Kaiyrzhanov, R;
Rocca, C;
Suri, M;
Gulieva, S;
Zaki, MS;
Henig, NZ;
Siquier, K;
... Maroofian, R; + view all
(2022)
Biallelic loss of EMC10 leads to mild to severe intellectual disability.
Annals of Clinical and Translational Neurology
10.1002/acn3.51602.
(In press).
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Kaiyrzhanov, R;
Zaki, MS;
Maroofian, R;
Dominik, N;
Rad, A;
Vona, B;
Houlden, H;
(2021)
A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities.
Movement Disorders Clinical Practice
10.1002/mdc3.13310.
(In press).
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Kaiyrzhanov, Rauan;
Perry, Luke;
Rocca, Clarissa;
Zaki, Maha S;
Hosny, Heba;
Araujo Martins Moreno, Cristiane;
Phadke, Rahul;
... Maroofian, Reza; + view all
(2022)
GGPS1-associated muscular dystrophy with and without hearing loss.
Annals of Clinical and Translational Neurology
10.1002/acn3.51633.
(In press).
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Kaiyrzhanov, Rauan;
Rad, Aboulfazl;
Lin, Sheng-Jia;
Bertoli-Avella, Aida;
Kallemeijn, Wouter W;
Godwin, Annie;
Zaki, Maha S;
... Maroofian, Reza; + view all
(2023)
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Brain
10.1093/brain/awad380.
(In press).
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Kaiyrzhanov, Rauan;
Zharkinbekova, Nazira;
Guliyeva, Ulviyya;
Ganieva, Manizha;
Tavadyan, Zaruhi;
Gachechiladze, Tamar;
Salayev, Kamran;
... Houlden, Henry; + view all
(2024)
Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia.
Nature Genetics
, 56
(12)
pp. 2582-2584.
10.1038/s41588-024-02016-x.
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Kaiyrzhanov, R;
Wortmann, S;
Reid, T;
Dehghani, M;
Vahidi Mehrjardi, MY;
Alhaddad, B;
Wagner, M;
... Maroofian, R; + view all
(2021)
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum.
Brain
10.1093/brain/awaa442.
(In press).
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Keller, N;
Paketci, C;
Altmueller, J;
Fuhrmann, N;
Wunderlich, G;
Schrank, B;
Unver, O;
... Karakaya, M; + view all
(2021)
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Human Mutation
, 42
(4)
pp. 460-472.
10.1002/humu.24181.
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Keller, N;
Mendoza-Ferreira, N;
Maroofian, R;
Chelban, V;
Khalil, Y;
Mills, PB;
Boostani, R;
... Karakaya, M; + view all
(2020)
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.
Neuromuscular Disorders
, 30
(7)
pp. 583-589.
10.1016/j.nmd.2020.04.004.
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Koopmann, Tamara T;
Jamshidi, Yalda;
Naghibi-Sistani, Mohammad;
van der Klift, Heleen M;
Birjandi, Hassan;
Al-Hassnan, Zuhair;
Alwadai, Abdullah;
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