Publikationen

Publikationen des Jahres 2021

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. |►| Pirozzi F, Lee B, Horsley N, Burkardt DD, Dobyns WB, Graham JM Jr, Dentici ML, Cesario C, Schallner J, Porrmann J, Di Donato N, Sanchez-Lara PA, Mirzaa GM. |►| Am J Med Genet A. 2021 Jun 4.  [Epub ahead of print.] |►| PMID: 34087052.

Generation of iPSC lines from CPVT patient carrying heterozygous mutation p.A2254V in the ryanodine receptor 2 gene.  |►| Li W, Henze S, Luo X, Ulbricht Y, Richter A, Di Donato N, Wilde AAM, Guan K. |►| Stem Cell Res. 2021 Feb 19;53:102259. [Epub ahead of print.] |►|PMID: 33640691

Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.Melo US, Bonner D, Kent Lloyd KC, Moshiri A, Willis B, Lanoue L, Bower L, Leonard BC, Martins DJ, Gomes F, de Souza Leite F, Oliveira D, Kitajima JP, Monteiro FP, Zatz M, Menck CFM, Wheeler MT, Bernstein JA, Dumas K, Spiteri E, Di Donato N, Jahn A, Hashem M, Alsaif HS, Chedrawi A, Alkuraya FS, Kok F, Byers HM. Genet Med. 2021 Jan 8.  PMID: 33420346.

Publikationen des Jahres 2020

International consensus recommendations on the diagnostic work-up for malformations of cortical development. Oegema R, Barakat TS, Wilke M, Stouffs K, Amrom D, Aronica E, Bahi-Buisson N, Conti V, Fry AE, Geis T, Andres DG, Parrini E, Pogledic I, Said E, Soler D, Valor LM, Zaki MS, Mirzaa G, Dobyns WB, Reiner O, Guerrini R, Pilz DT, Hehr U, Leventer RJ, Jansen A, Mancini GMS, Di Donato N. Nat Rev Neurology. 2020. DOI : 10.1038/s41582-020-0395-6. PMID: 32895508.

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Lennox AL, Hoye ML, Jiang R, Johnson-Kerner BL, Suit LA, Venkataramanan S, Sheehan CJ, Alsina FC, Fregeau B, Aldinger KA, Moey C, Lobach I, Afenjar A, Babovic-Vuksanovic D, Bezieau S, Blackburn PR, Bunt J, Burglen L, Campeau PM, Charles P, Chung BHY, Cogne B, Curry C, D'Agostino MD, Di Donato N, Faivre L, Heron D, Innes AM, Isidor B, Keren B, Kimball A, Klee EW, Kuentz P, Kury S, Martin-Coignard D, Mirzaa G, Mignot C, Miyake N, Matsumoto N, Fujita A, Nava C, Nizon M, Rodriguez D, Blok LS, Thauvin-Robinet C, Thevenon J, Vincent M, Ziegler A, Dobyns W, Richards LJ, Barkovich AJ, Floor SN, Silver DL, Sherr EH. Neuron. 2020 DOI: 10.1016/j.neuron.2020.01.042. PMID: 32135084.

Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. Walsh S, Gosswein SS, Rump A, von der Hagen M, Hackmann K, Schrock E, Di Donato N, Kahlert AK. Eur J Med Genet 2020. 6310:104019. DOI: 10.1016/j.ejmg.2020.104019. PMID: 32712214.

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. Becker LL, Dafsari HS, Schallner J, Abdin D, Seifert M, Petit F, Smol T, Bok L, Rodan L, Krapels I, Spranger S, Weschke B, Johnson K, Straub V, Kaindl AM, Di Donato N, von der Hagen M, Cirak S. J Hum Genet. 2020. DOI: 10.1038/s10038-020-0803-1. DOI: 10.1038/s10038-020-0803-1. PMID: 32788638.

Dermatological signs lead to discovery of mosaic ACTB variants in segmental odonto-maxillary dysplasia. Polubothu S, Abdin D, Barysch M, Thomas A, Bulstrode N, Evans R, Solman L, Obwegeser J, Hennekam RC, Weibel L, Calder A, Di Donato N, Kinsler VA. Br J Dermatol. 2020. DOI: 10.1111/bjd.19339. PMID: 32585735.

Publikationen des Jahres 2019

PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome. Abdin D, Rump A, Tzschach A, Sarnow K, Schrock E, Hackmann K, Di Donato N. Eur J Med Genet. 2019. 6212:103587. PMID: 30472487.

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene. Ozieblo D, Sarosiak A, Leja ML, Budde BS, Tacikowska G, Di Donato N, Bolz HJ, Nurnberg P, Skarzynski H, Oldak M. J Transl Med 2019. 171:351. PMID: 31655630.

Novel truncating PPM1D mutation in a patient with intellectual disability. Porrmann J, Rump A, Hackmann K, Di Donato N, Kahlert AK, Wagner J, Jahn A, Eger I, Flury M, Schrock E, Tzschach A, Gieldon L. Eur J Med Genet 2019. 621:70-72. PMID: 29758292.

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stobe P, Stumpel C, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R. Am J Hum Genet. 2019. 1042:203-212. PMID: 30612693.

Parental mosaicism in epilepsies due to alleged de novo variants. Moller RS, Liebmann N, Larsen LHG, Stiller M, Hentschel J, Kako N, Abdin D, Di Donato N, Pal DK, Zacher P, Syrbe S, Dahl HA, Lemke JR. Epilepsia 2019. 606:e63-e66. PMID: 31077350.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG. Am J Hum Genet. 2019. 1054:844-853. PMID: 31585108.

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallieres M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K. Am J Hum Genet 2019. 1055:987-995. PMID: 31587868.

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders. Dulovic-Mahlow M, Trinh J, Kandaswamy KK, Braathen GJ, Di Donato N, Rahikkala E, Beblo S, Werber M, Krajka V, Busk OL, et al. Am J Hum Genet 2019 105, 213-220. PMID: 31230721.

Publikationen des Jahres 2018

Diagnostic value of partial exome sequencing in developmental disorders. Gieldon L, Mackenroth L, Kahlert AK, Lemke JR, Porrmann J, Schallner J, von der Hagen M, Markus S, Weidensee S, Novotna B, Soerensen C, Klink B, Wagner J, Tzschach A, Jahn A, Kuhlee F, Hackmann K, Schrock E, Di Donato N, Rump A. PLoS One 2018 13: pp. e020104. PMID: 30091983.

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome.Alter S, Hotz A, Jahn A, Di Donato N, Schrock E, Smitka M, von der Hagen M, Schallner J, Menschikowski M, Gillitzer C, Laass MW, Fischer J, Tzschach A. Am J Med Genet A  2018.176: 2862-2866. PMID: 30561130.                 

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia. Latham SL, Ehmke N, Reinke PYA, Taft MH, Eicke D, Reindl T, Stenzel W, Lyons MJ, Friez MJ, Lee JA., Hecker R, Fruhwald MC, Becker K, Neuhann TM, Horn D, Schrock E, Niehaus I, Sarnow K, Grutzmann K, Gawehn L, Klink B, Rump A, Chaponnier C, Figueiredo C, Knofler R, Manstein DJ, Di Donato N. Nat Commun 2018 9: pp. 4250. PMID: 30315159.

Further delineation of Malan syndrome. Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, Gonzalez NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammi C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Hum Mutat 2018 399:1226-1237. PMID: 29897170.

Variable clinical phenotype in two siblings with Aicardi-Goutieres syndrome type 6 and a novel mutation in the ADAR gene. Schmelzer L, Smitka M, Wolf C, Lucas N, Tungler V, Hahn G, Tzschach A, Di Donato N, Lee-Kirsch MA, von der Hagen M. Eur J Paediatr Neurol. 2018 22: 186-189. PMID: 29221912.

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1. Brock S, Stouffs K, Scalais E, D'Hooghe M, Keymolen K, Guerrini R, Dobyns WB, Di Donato N*, Jansen AC*. Eur J Hum Genet. 2018. 26: pp. 1132-1142. * equal contribution

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.Eisenberger T,* Di Donato N,* Decker C, Delle Vedove A, Neuhaus C, Nurnberg G, Toliat M, Nurnberg P, Murbe D, Bolz HJ. Genet Med. 2018 20: 614-621. PMID: 29309402.   * equal contribution

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS; University of Washington Center for Mendelian Genomics, Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB. Genet Med. 2018 Apr 19. doi: 10.1038/gim.2018.8. PMID: 29671837.

Publikationen des Jahres 2017

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations. Rath M, Spiegler S, Nath N, Schwefel K, Di Donato N, Gerber J, Korenke GC, Hellenbroich Y, Hehr U, Gross S, Sure U, Zoll B, Gilberg E, Kaderali L, Felbor U. Mol Genet Genomic Med. 2017. 5: pp. 21-27. PMID: 28116327.

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. Symonds JD, Joss S, Metcalfe KA, Somarathi S, Cruden J, Devlin AM, Donaldson A, Di Donato N, Fitzpatrick D, Kaiser FJ, Lampe AK, Lees MM, McLellan A, Montgomery T, Mundada V, Nairn L, Sarkar A, Schallner J, Pozojevic J, Parenti I, Tan J, Turnpenny P, Whitehouse WP, Study DDD, Zuberi SM. Epilepsia. 2017. 58:565-575. PMID: 28166369.

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenco C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW. PLoS Genet. 2017. 13:e1006683. PMID: 28346496.

GRIN2B encephalopathy – novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Platzer K, Yuan H, Schütz H, Winschel H, Chen  W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing  MC, Tinkle  BT, Adams DJ, Depienne C, Keren C , Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson J, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH , Tarnopolsky MA, Lauren BI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis S, Lemke JR. J Med Genet. 2017. 54:460-470. PMID: 28377535.

FOXP1-related intellectual disability syndrome: a recognisable entity. Meerschaut I, Rochefort D, Revencu N, Petre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, Garcia-Minaur S, Lapunzina P, Bralo MP, Mori MA, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, Di Donato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B. J Med Genet. 2017. 549:613-623. PMID: 28735298.                                  

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. Kasper BS, Dorfler A, Di Donato N, Kasper EM, Wieczorek D, Hoyer J, Zweier C. Epilepsy Behav 2017. 69:104-109. PMID: 28237832.

Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies. Porrmann J, Betcheva-Krajcir E, Di Donato N, Kahlert AK, Schallner J, Rump A, Schrock E, Dobritzsch D, Roelofsen J, van Kuilenburg ABP, Tzschach A. Am J Med Genet A. 2017. 173:2736-2742. PMID: 28742244.

Pierpont syndrome: report of a new patient. Kahlert AK, Weidensee S, Mackenroth L, Porrmann J, Rump A, Di Donato N, Schrock E, Tzschach A. Clin Dysmorphol 2017. 264:205-208. PMID: 28562391.

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability. Gieldon L, Mackenroth L, Betcheva-Krajcir E, Rump A, Beck-Wodl S, Schallner J, Di Donato N, Schrock E, Tzschach A. Am J Med Genet A. 2017. 173:2545-2550. PMID: 28777483.

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern. Podolska A, Kobelt A, Fuchs S, Hackmann K, Rump A, Schrock E, Kutsche K, Di Donato N. Am J Med Genet A 2017; 173:1334-1341. PMID: 28371302.

Lissencephaly: expanded imaging and clinical classification. Di Donato, N., Chiari, S., Mirzaa, G. M., Aldinger, K., Parrini, E., Olds, C., Guerrini, R., Dobyns, W. B. Am J Med Genet. 2017. 173: 1473-1488. PMID: 28440899.

Publikationen des Jahres 2016

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure. Dehmel M, Brenner S, Suttorp M, Hahn G, Schutzle H, Dinger J, Di Donato N, Mackenroth L, von der Hagen M. Neuropediatrics. 2016. 3:182-186. PMID: 26951492.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. Bogershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PO, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nurnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nurnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Genevieve D, Yigit G, Wollnik B. Hum Mutat. 2016. 37: 847-64. PMID: 27302555.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Loviglio MN, Leleu M, Mannik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM, 2p15 Consortium;* 16p11.2 Consortium,Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A. Mol Psychiatry. 2016. 22: 836-849. PMID: 27240531.  * Di Donato N. was a part of 2p15 Consortium.

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer. Rump A, Benet-Pages A, Schubert S, Kuhlmann JD, Janavicius R, Machackova E, Foretova L, Kleibl Z, Lhota F, Zemankova P, Betcheva-Krajcir E, Mackenroth L, Hackmann K, Lehmann J, Nissen A, Di Donato N, Opitz R, Thiele H, Kast K, Wimberger P, Holinski-Feder E, Emmert S, Schrock E, Klink B. PLoS Genet. 2016. 12:e1006248. PMID: 27504877.

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH. Hackmann K, Kuhlee F, Betcheva-Krajcir E, Kahlert AK, Mackenroth L, Klink B, Di Donato N, Tzschach A, Kast K, Wimberger P, Schrock E, Rump A. Breast Cancer Res Treat 2016. 3:585-590. PMID: 27581129.

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. Ravenscroft G, Di Donato N, Hahn G, Davis MR, Craven PD, Poke G, Neas KR, Neuhann TM, Dobyns WB, Laing NG. Neuromuscul Disord. 2016 11:744-748. PMID: 27751653.

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. Di Donato N, Kuechler A, Velgano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmuller J, Bogershausen N, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, Dobyns WB. Am J Med Genet A. 2016. 170:2644-51. PMID: 27240540.

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmuller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A. J Med Genet. 2016. 53:419-25. PMID: 26843489.

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN. Am J Hum Genet. 2016. 99:1117-1129. PMID: 27773430.

Mammalian cadherins  DCHS1-FAT4 affect functional cerebral architecture. Beste C, Ocklenburg S, von der Hagen M, Di Donato N.  Brain Struct Funct. 2016. 221:2487-91. PMID: 25930014.