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All Publications of the CCG


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2021

Bamborschke, D., Ozdemir, O., Kreutzer, M., Motameny, S., Thiele, H., Kribs, A., Dotsch, J., Altmuller, J., Nurnberg, P. and Cirak, S. (2021). "Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours." Am J Med Genet A 185(1): 90-96 https://www.ncbi.nlm.nih.gov/pubmed/33048476.


Blume, F., Kirsten, H., Ahnert, P., Chakraborty, T., Gross, A., Horn, K., Toliat, M. R., Nurnberg, P., Westenfelder, E. M., Goepel, W. and Scholz, M. (2021). "Verification of immunology-related genetic associations in BPD supports ABCA3 and five other genes." Pediatr Res https://www.ncbi.nlm.nih.gov/pubmed/34465876.


Boehm, V., Kueckelmann, S., Gerbracht, J. V., Kallabis, S., Britto-Borges, T., Altmuller, J., Kruger, M., Dieterich, C. and Gehring, N. H. (2021). "SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity." Nat Commun 12(1): 3965 https://www.ncbi.nlm.nih.gov/pubmed/34172724.


Boileau, E., Altmuller, J., Naarmann-de Vries, I. S. and Dieterich, C. (2021). "A comparison of metabolic labeling and statistical methods to infer genome-wide dynamics of RNA turnover." Brief Bioinform https://www.ncbi.nlm.nih.gov/pubmed/34228787.


Brych, A., Haas, F. B., Parzefall, K., Panzer, S., Schermuly, J., Altmuller, J., Engelsdorf, T., Terpitz, U., Rensing, S. A., Kiontke, S. and Batschauer, A. (2021). "Coregulation of gene expression by White collar 1 and phytochrome in Ustilago maydis." Fungal Genet Biol 152: 103570 https://www.ncbi.nlm.nih.gov/pubmed/34004340.


Bubb, K., Holzer, T., Nolte, J. L., Kruger, M., Wilson, R., Schlotzer-Schrehardt, U., Brinckmann, J., Altmuller, J., Aszodi, A., Fleischhauer, L., Clausen-Schaumann, H., Probst, K. and Brachvogel, B. (2021). "Mitochondrial respiratory chain function promotes extracellular matrix integrity in cartilage." J Biol Chem: 101224 https://www.ncbi.nlm.nih.gov/pubmed/34560099.


Cesarato, N., Wehner, M., Ghughunishvili, M., Schmidt, A., Axt, D., Thiele, H., Lentze, M. J., Has, C., Geyer, M., Basmanav, F. B. and Betz, R. C. (2021). "Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes." Am J Med Genet A https://www.ncbi.nlm.nih.gov/pubmed/34318586.


Chen, Y., Branicki, W., Walsh, S., Nothnagel, M., Kayser, M., Liu, F. and Consortium, V. (2021). "The impact of correlations between pigmentation phenotypes and underlying genotypes on genetic prediction of pigmentation traits." Forensic Sci Int Genet 50: 102395 https://www.ncbi.nlm.nih.gov/pubmed/33070049.


Daimaguler, H. S., Akpulat, U., Ozdemir, O., Yis, U., Gungor, S., Talim, B., Diniz, G., Baydan, F., Thiele, H., Altmuller, J., Nurnberg, P. and Cirak, S. (2021). "Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey." Am J Med Genet A 185(6): 1678-1690 https://www.ncbi.nlm.nih.gov/pubmed/33694278.


de la Puente, M., Ruiz-Ramirez, J., Ambroa-Conde, A., Xavier, C., Pardo-Seco, J., Alvarez-Dios, J., Freire-Aradas, A., Mosquera-Miguel, A., Gross, T. E., Cheung, E. Y. Y., Branicki, W., Nothnagel, M., Parson, W., Schneider, P. M., Kayser, M., Carracedo, A., Lareu, M. V., Phillips, C. and On Behalf Of The Visage, C. (2021). "Development and Evaluation of the Ancestry Informative Marker Panel of the VISAGE Basic Tool." Genes (Basel) 12(8) https://www.ncbi.nlm.nih.gov/pubmed/34440458.


Dworschak, G. C., Punetha, J., Kalanithy, J. C., Mingardo, E., Erdem, H. B., Akdemir, Z. C., Karaca, E., Mitani, T., Marafi, D., Fatih, J. M., Jhangiani, S. N., Hunter, J. V., Dakal, T. C., Dhabhai, B., Dabbagh, O., Alsaif, H. S., Alkuraya, F. S., Maroofian, R., Houlden, H., Efthymiou, S., Dominik, N., Salpietro, V., Sultan, T., Haider, S., Bibi, F., Thiele, H., Hoefele, J., Riedhammer, K. M., Wagner, M., Guella, I., Demos, M., Keren, B., Buratti, J., Charles, P., Nava, C., Heron, D., Heide, S., Valkanas, E., Waddell, L. B., Jones, K. J., Oates, E. C., Cooper, S. T., MacArthur, D., Syrbe, S., Ziegler, A., Platzer, K., Okur, V., Chung, W. K., O'Shea, S. A., Alcalay, R., Fahn, S., Mark, P. R., Guerrini, R., Vetro, A., Hudson, B., Schnur, R. E., Hoganson, G. E., Burton, J. E., McEntagart, M., Lindenberg, T., Yilmaz, O., Odermatt, B., Pehlivan, D., Posey, J. E., Lupski, J. R. and Reutter, H. (2021). "Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies." Genet Med 23(9): 1715-1725 https://www.ncbi.nlm.nih.gov/pubmed/34054129.


Eckl, K. M., Gruber, R., Brennan, L., Marriott, A., Plank, R., Moosbrugger-Martinz, V., Blunder, S., Schossig, A., Altmuller, J., Thiele, H., Nurnberg, P., Zschocke, J., Hennies, H. C. and Schmuth, M. (2021). "Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V." Front Genet 12: 689940 https://www.ncbi.nlm.nih.gov/pubmed/34322157.


Elalaoui, S. C., Fejjal, N., Li, Y., Thiele, H., Altmuller, J., Guaoua, S., Nurnberg, P., Wollnik, B., Sefiani, A. and Ratbi, I. (2021). "Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report." Pan Afr Med J 39: 21 https://www.ncbi.nlm.nih.gov/pubmed/34394812.


Errbii, M., Keilwagen, J., Hoff, K. J., Steffen, R., Altmuller, J., Oettler, J. and Schrader, L. (2021). "Transposable elements and introgression introduce genetic variation in the invasive ant Cardiocondyla obscurior." Mol Ecol https://www.ncbi.nlm.nih.gov/pubmed/34324751.


Fabretti, F., Tschernoster, N., Erger, F., Hedergott, A., Buescher, A. K., Dafinger, C., Reusch, B., Kontges, V. K., Kohl, S., Bartram, M. P., Weber, L. T., Thiele, H., Altmueller, J., Schermer, B., Beck, B. B. and Habbig, S. (2021). "Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling." Kidney Int Rep 6(5): 1368-1378 https://www.ncbi.nlm.nih.gov/pubmed/34013115.


Ferreira, P., Hofer, V., Kronshage, N., Marko, A., Reusswig, K. U., Tetik, B., Diessel, C., Kohler, K., Tschernoster, N., Altmuller, J., Schulze, N., Pfander, B. and Boos, D. (2021). "MTBP phosphorylation controls DNA replication origin firing." Sci Rep 11(1): 4242 https://www.ncbi.nlm.nih.gov/pubmed/33608586.


Flumann, R., Rehkamper, T., Nieper, P., Pfeiffer, P., Holzem, A., Klein, S., Bhatia, S., Kochanek, M., Kisis, I., Pelzer, B. W., Ahlert, H., Hauer, J., da Palma Guerreiro, A., Ryan, J. A., Reimann, M., Riabinska, A., Wiederstein, J., Kruger, M., Deckert, M., Altmuller, J., Klatt, A. R., Frenzel, L. P., Pasqualucci, L., Beguelin, W., Melnick, A. M., Sander, S., Montesinos-Rongen, M., Brunn, A., Lohneis, P., Buttner, R., Kashkar, H., Borkhardt, A., Letai, A., Persigehl, T., Peifer, M., Schmitt, C. A., Reinhardt, H. C. and Knittel, G. (2021). "An Autochthonous Mouse Model of Myd88- and BCL2-Driven Diffuse Large B-cell Lymphoma Reveals Actionable Molecular Vulnerabilities." Blood Cancer Discov 2(1): 70-91 https://www.ncbi.nlm.nih.gov/pubmed/33447829.


Frye, B. C., Gaede, K. I., Saltini, C., Rossman, M. D., Monos, D. S., Rosenman, K. D., Schuler, C. R., Weston, A., Wegner, R., Noth, R., Zissel, G., Schreiber, S., Nothnagel, M. and Muller-Quernheim, J. (2021). "Analysis of single nucleotide polymorphisms in chronic beryllium disease." Respir Res 22(1): 107 https://www.ncbi.nlm.nih.gov/pubmed/33863318.


Gabriel, E., Albanna, W., Pasquini, G., Ramani, A., Josipovic, N., Mariappan, A., Schinzel, F., Karch, C. M., Bao, G., Gottardo, M., Suren, A. A., Hescheler, J., Nagel-Wolfrum, K., Persico, V., Rizzoli, S. O., Altmuller, J., Riparbelli, M. G., Callaini, G., Goureau, O., Papantonis, A., Busskamp, V., Schneider, T. and Gopalakrishnan, J. (2021). "Human brain organoids assemble functionally integrated bilateral optic vesicles." Cell Stem Cell https://www.ncbi.nlm.nih.gov/pubmed/34407456.


Gangfuss, A., Yigit, G., Altmuller, J., Nurnberg, P., Czeschik, J. C., Wollnik, B., Bogershausen, N., Burfeind, P., Wieczorek, D., Kaiser, F., Roos, A., Kolbel, H., Schara-Schmidt, U. and Kuechler, A. (2021). "Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study." Am J Med Genet A 185(4): 1216-1221 https://www.ncbi.nlm.nih.gov/pubmed/33427397.


Gizak, A., Diegmann, S., Dreha-Kulaczewski, S., Wisniewski, J., Duda, P., Ohlenbusch, A., Huppke, B., Henneke, M., Hohne, W., Altmuller, J., Thiele, H., Nurnberg, P., Rakus, D., Gartner, J. and Huppke, P. (2021). "A novel remitting leukodystrophy associated with a variant in FBP2." Brain Commun 3(2): fcab036 https://www.ncbi.nlm.nih.gov/pubmed/33977262.


Goulielmaki, E., Tsekrekou, M., Batsiotos, N., Ascensao-Ferreira, M., Ledaki, E., Stratigi, K., Chatzinikolaou, G., Topalis, P., Kosteas, T., Altmuller, J., Demmers, J. A., Barbosa-Morais, N. L. and Garinis, G. A. (2021). "The splicing factor XAB2 interacts with ERCC1-XPF and XPG for R-loop processing." Nat Commun 12(1): 3153 https://www.ncbi.nlm.nih.gov/pubmed/34039990.


Hennies, H. C. and Poumay, Y. (2021). "Skin Disease Models In Vitro and Inflammatory Mechanisms: Predictability for Drug Development." Handb Exp Pharmacol 265: 187-218 https://www.ncbi.nlm.nih.gov/pubmed/33387068.


Iqbal, M., Maroofian, R., Cavdarli, B., Riccardi, F., Field, M., Banka, S., Bubshait, D. K., Li, Y., Hertecant, J., Baig, S. M., Dyment, D., Efthymiou, S., Abdullah, U., Makhdoom, E. U. H., Ali, Z., Scherf de Almeida, T., Molinari, F., Mignon-Ravix, C., Chabrol, B., Antony, J., Ades, L., Pagnamenta, A. T., Jackson, A., Douzgou, S., Genomics England Research, C., Beetz, C., Karageorgou, V., Vona, B., Rad, A., Baig, J. M., Sultan, T., Alvi, J. R., Maqbool, S., Rahman, F., Toosi, M. B., Ashrafzadeh, F., Imannezhad, S., Karimiani, E. G., Sarwar, Y., Khan, S., Jameel, M., Noegel, A. A., Budde, B., Altmuller, J., Motameny, S., Hohne, W., Houlden, H., Nurnberg, P., Wollnik, B., Villard, L., Alkuraya, F. S., Osmond, M., Hussain, M. S. and Yigit, G. (2021). "Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies." Genet Med https://www.ncbi.nlm.nih.gov/pubmed/34244665.


Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., Lauxmann, S., Kruger, J., Kegele, J., Canafoglia, L., Franceschetti, S., Mayer, T., Rebstock, J., Zacher, P., Ruf, S., Alber, M., Sterbova, K., Lassuthova, P., Vlckova, M., Lemke, J. R., Platzer, K., Krey, I., Heine, C., Wieczorek, D., Kroell-Seger, J., Lund, C., Klein, K. M., Billie Au, P. Y., Rho, J. M., Ho, A. W., Masnada, S., Veggiotti, P., Giordano, L., Accorsi, P., Hoei-Hansen, C. E., Striano, P., Zara, F., Verhelst, H., Verhoeven, J. S., van der Zwaag, B., Harder, A. V. E., Brilstra, E., Pendziwiat, M., Lebon, S., Vaccarezza, M., Minh Le, N., Christensen, J., Gronborg, S., Scherer, S. W., Howe, J., Fazeli, W., Howell, K. B., Leventer, R., Stutterd, C., Walsh, S., Gerard, M., Gerard, B., Matricardi, S., Bonardi, C. M., Sartori, S., Berger, A., Hoffman-Zacharska, D., Mastrangelo, M., Darra, F., Vollo, A., Motazacker, M. M., Lakeman, P., Nizon, M., Betzler, C., Altuzarra, C., Caume, R., Roubertie, A., Gelisse, P., Marini, C., Guerrini, R., Bilan, F., Tibussek, D., Koch-Hogrebe, M., Perry, M. S., Ichikawa, S., Dadali, E., Sharkov, A., Mishina, I., Abramov, M., Kanivets, I., Korostelev, S., Kutsev, S., Wain, K. E., Eisenhauer, N., Wagner, M., Savatt, J. M., Muller-Schluter, K., Bassan, H., Borovikov, A., Nassogne, M. C., Destree, A., Schoonjans, A. S., Meuwissen, M., Buzatu, M., Jansen, A., Scalais, E., Srivastava, S., Tan, W. H., Olson, H. E., Loddenkemper, T., Poduri, A., Helbig, K. L., Helbig, I., Fitzgerald, M. P., Goldberg, E. M., Roser, T., Borggraefe, I., Brunger, T., May, P., Lal, D., Lederer, D., Rubboli, G., Heyne, H. O., Lesca, G., Hedrich, U. B. S., Benda, J., Gardella, E., Lerche, H. and Moller, R. S. (2021). "Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications." Brain https://www.ncbi.nlm.nih.gov/pubmed/34431999.


Kanne, J., Hussong, M., Isensee, J., Munoz-Lopez, A., Wolffgramm, J., Hess, F., Grimm, C., Bessonov, S., Meder, L., Wang, J., Reinhardt, H. C., Odenthal, M., Hucho, T., Buttner, R., Summerer, D. and Schweiger, M. R. (2021). "Pericentromeric Satellite III transcripts induce etoposide resistance." Cell Death Dis 12(6): 530 https://www.ncbi.nlm.nih.gov/pubmed/34031359.


Kargapolova, Y., Rehimi, R., Kayserili, H., Bruhl, J., Sofiadis, K., Zirkel, A., Palikyras, S., Mizi, A., Li, Y., Yigit, G., Hoischen, A., Frank, S., Russ, N., Trautwein, J., van Bon, B., Gilissen, C., Laugsch, M., Gusmao, E. G., Josipovic, N., Altmuller, J., Nurnberg, P., Langst, G., Kaiser, F. J., Watrin, E., Brunner, H., Rada-Iglesias, A., Kurian, L., Wollnik, B., Bouazoune, K. and Papantonis, A. (2021). "Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology." Nat Commun 12(1): 3014 https://www.ncbi.nlm.nih.gov/pubmed/34021162.


Katsara, M. A., Branicki, W., Pospiech, E., Hysi, P., Walsh, S., Kayser, M., Nothnagel, M. and Consortium, V. (2021). "Testing the impact of trait prevalence priors in Bayesian-based genetic prediction modeling of human appearance traits." Forensic Sci Int Genet 50: 102412 https://www.ncbi.nlm.nih.gov/pubmed/33260052.


Katsara, M. A., Branicki, W., Walsh, S., Kayser, M., Nothnagel, M. and Consortium, V. (2021). "Evaluation of supervised machine-learning methods for predicting appearance traits from DNA." Forensic Sci Int Genet 53: 102507 https://www.ncbi.nlm.nih.gov/pubmed/33831816.


Kaygusuz, E., Khayyat, A. I. A., Abdullah, U., Budde, B. S., Asif, M., Ahmed, I., Makhdoom, E. U. H., Sur-Erdem, I., Baig, J. M., Khan, M. M. A., Toliat, M. R., Becker, C., Anwar, H., Iqbal, M., Fischer, S., Jameel, M., Sher, M., Tariq, M., Malik, N. A., Noegel, A. A., Hassan, M. J., Thiele, H., Tinschert, S., Eichinger, L., Honing, S., Baig, S. M., Nurnberg, P. and Hussain, M. S. (2021). "A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome." Clin Genet 100(4): 486-488 https://www.ncbi.nlm.nih.gov/pubmed/34270086.


Keller, N., Paketci, C., Altmueller, J., Fuhrmann, N., Wunderlich, G., Schrank, B., Unver, O., Yilmaz, S., Boostani, R., Karimiani, E. G., Motameny, S., Thiele, H., Nurnberg, P., Maroofian, R., Yis, U., Wirth, B. and Karakaya, M. (2021). "Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease." Hum Mutat 42(4): 460-472 https://www.ncbi.nlm.nih.gov/pubmed/33600046.


Keller, N., Paketci, C., Edem, P., Thiele, H., Yis, U., Wirth, B. and Karakaya, M. (2021). "De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy." Eur J Med Genet 64(2): 104134 https://www.ncbi.nlm.nih.gov/pubmed/33387674.


Khoshkhoo, S., Lal, D. and Walsh, C. A. (2021). "Application of single cell genomics to focal epilepsies: A call to action." Brain Pathol 31(4): e12958 https://www.ncbi.nlm.nih.gov/pubmed/34196990.


Khuller, K., Yigit, G., Martinez Grijalva, C., Altmuller, J., Thiele, H., Nurnberg, P., Elcioglu, N. H., Yeter, B., Hehr, U., Stein, A., Della Marina, A., Koninger, A., Depienne, C., Kaiser, F. J., Wollnik, B. and Kuechler, A. (2021). "MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease." Eur J Med Genet 64(10): 104310 https://www.ncbi.nlm.nih.gov/pubmed/34400370.


Kirschner, G. K., Rosignoli, S., Guo, L., Vardanega, I., Imani, J., Altmuller, J., Milner, S. G., Balzano, R., Nagel, K. A., Pflugfelder, D., Forestan, C., Bovina, R., Koller, R., Stocker, T. G., Mascher, M., Simmonds, J., Uauy, C., Schoof, H., Tuberosa, R., Salvi, S. and Hochholdinger, F. (2021). "ENHANCED GRAVITROPISM 2 encodes a STERILE ALPHA MOTIF-containing protein that controls root growth angle in barley and wheat." Proc Natl Acad Sci U S A 118(35) https://www.ncbi.nlm.nih.gov/pubmed/34446550.


Kloth, K., Lozic, B., Tagoe, J., Hoffer, M. J. V., Van der Ven, A., Thiele, H., Altmuller, J., Kubisch, C., Au, P. Y. B., Denecke, J., Bijlsma, E. K. and Lessel, D. (2021). "ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants." Neurogenetics 22(4): 263-269 https://www.ncbi.nlm.nih.gov/pubmed/34218362.


Koester, J., Miroshnikova, Y. A., Ghatak, S., Chacon-Martinez, C. A., Morgner, J., Li, X., Atanassov, I., Altmuller, J., Birk, D. E., Koch, M., Bloch, W., Bartusel, M., Niessen, C. M., Rada-Iglesias, A. and Wickstrom, S. A. (2021). "Niche stiffening compromises hair follicle stem cell potential during ageing by reducing bivalent promoter accessibility." Nat Cell Biol 23(7): 771-781 https://www.ncbi.nlm.nih.gov/pubmed/34239060.


Koko, M., Krause, R., Sander, T., Bobbili, D. R., Nothnagel, M., May, P., Lerche, H. and Epi, C. (2021). "Distinct gene-set burden patterns underlie common generalized and focal epilepsies." EBioMedicine 72: 103588 https://www.ncbi.nlm.nih.gov/pubmed/34571366.


Koko, M., Yahia, A., Elsayed, L. E., Hamed, A. A., Mohammed, I. N., Elseed, M. A., Hamad, M. H. A., Babai, A. M., Siddig, R. A., Abd Allah, A. S. I., Mohamed, M., El-Amin, M., Esteves, T., Altmuller, J., Toliat, M. R., Thiele, H., Nurnberg, P., Salih, M. A., Ahmed, A. E., Lerche, H. and Stevanin, G. (2021). "An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families." Ann Hum Genet 85(5): 186-195 https://www.ncbi.nlm.nih.gov/pubmed/34111303.


Lima Cunha, D., Oram, A., Gruber, R., Plank, R., Lingenhel, A., Gupta, M. K., Altmuller, J., Nurnberg, P., Schmuth, M., Zschocke, J., Saric, T., Eckl, K. M. and Hennies, H. C. (2021). "hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers." Int J Mol Sci 22(4) https://www.ncbi.nlm.nih.gov/pubmed/33670118.


Macnee, M., Perez-Palma, E., Schumacher-Bass, S., Dalton, J., Leu, C., Blankenberg, D. and Lal, D. (2021). "SimText: A text mining framework for interactive analysis and visualization of similarities among biomedical entities." Bioinformatics https://www.ncbi.nlm.nih.gov/pubmed/34037702.


Makhdoom, E. U. H., Waseem, S. S., Iqbal, M., Abdullah, U., Hussain, G., Asif, M., Budde, B., Hohne, W., Tinschert, S., Saadi, S. M., Yousaf, H., Ali, Z., Fatima, A., Kaygusuz, E., Khan, A., Jameel, M., Khan, S., Tariq, M., Anjum, I., Altmuller, J., Thiele, H., Honing, S., Baig, S. M., Nurnberg, P. and Hussain, M. S. (2021). "Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ." Genes (Basel) 12(5) https://www.ncbi.nlm.nih.gov/pubmed/34068194.


Mohseni, M., Babanejad, M., Booth, K. T., Jamali, P., Jalalvand, K., Davarnia, B., Ardalani, F., Khoshaeen, A., Arzhangi, S., Ghodratpour, F., Beheshtian, M., Jahanshad, F., Otukesh, H., Bahrami, F., Seifati, S. M., Bazazzadegan, N., Habibi, F., Behravan, H., Mirzaei, S., Keshavarzi, F., Nikzat, N., Mehrjoo, Z., Thiele, H., Nothnagel, M., Azaiez, H., Smith, R. J., Kahrizi, K. and Najmabadi, H. (2021). "Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran." Clin Genet 100(1): 59-78 https://www.ncbi.nlm.nih.gov/pubmed/33713422.


Pacholewska, A., Grimm, C., Herling, C. D., Lienhard, M., Konigs, A., Timmermann, B., Altmuller, J., Mucke, O., Reinhardt, H. C., Plass, C., Herwig, R., Hallek, M. and Schweiger, M. R. (2021). "Altered DNA Methylation Profiles in SF3B1 Mutated CLL Patients." Int J Mol Sci 22(17) https://www.ncbi.nlm.nih.gov/pubmed/34502260.


Ramzan, S., Tennstedt, S., Tariq, M., Khan, S., Noor Ul Ayan, H., Ali, A., Munz, M., Thiele, H., Korejo, A. A., Mughal, A. R., Jamal, S. Z., Nurnberg, P., Baig, S. M., Erdmann, J. and Ahmad, I. (2021). "A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family." Genes (Basel) 12(8) https://www.ncbi.nlm.nih.gov/pubmed/34440456.


Salles, P. A., Mata, I. F., Brunger, T., Lal, D. and Fernandez, H. H. (2021). "ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum." Front Neurol 12: 637890 https://www.ncbi.nlm.nih.gov/pubmed/33868146.


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