The University Hospital

Dr. rer. nat. Rebecca Buchert

Dr. rer. nat. Rebecca Buchert

Head of the Intellectual Disability Research Group

Head of the Intellectual Disability Research Group

Contact

Phone number: +49 7071 29-61227

Fax number: +49 7071 29-5172

E-mail address: rebecca.buchert@med.uni-tuebingen.de

Clinic / Institute / Center

  • EpiProspects: Evaluating prospects of epigenome profiling in unsolved syndromal cases:
    Although sequencing of the exome or genome is a crucial approach in routine diagnostics to elucidate new disease genes and molecular diagnoses, it can only solve about 40 percent of all cases. The sequencing of other molecular layers - above all the epigenome - which is not yet part of routine diagnostics, could help to close this gap. As has long been known, defects in DNA methylation are involved in certain groups of constitutional syndromes such as imprinting diseases. Recently, it has been shown that other cases may result from DNA methylation defects at single loci (epi variants) or have syndrome-specific DNA methylation changes across multiple loci (epi signatures).
    The comprehensive data of a DNA methylome and its integration with a complementing transcriptome therefore promise a higher rate of solved cases and a more complete picture of underlying disease mechanisms.
    Therefore, this project will use a unique cohort of 35 syndromic patients for whom trio genome sequencing did not reveal causal variants and 15 patients with known mutations in epigenetic regulators as a positive control. Complemented by a transcriptome, we aim to profile the DNA methylome of these index patients as well as healthy siblings and parents in keratinocytes. Subsequently, these data will be individually analyzed and integrated to identify the underlying causes of disease. Ultimately, our project will help to evaluate perspectives for the generation of DNA methylomes in routine diagnostics.
    This project takes place in cooperation with Professor Dr. Julia Schulze-Hentrich (Saarland University) and is funded by the German Research Foundation.
  • Elucidation of changes in histone 3 lysine 4 (H3K4) methylation as a consequence of pathogenic variants in candidate genes for cognitive developmental disorders:
    In this project we investigate the effects of mutations in histone methyltransferases on the expression of genes in cell culture models. For this purpose, we use the CRISPR/Cas9 method to introduce targeted mutations in genes encoding histone methyltransferases and subsequently analyze the cells with transcriptome sequencing and ChIP-Seq. This project is funded by the Fortüne program.
  • Autosomal recessive developmental delays:
    In patients with intellectual disability and consanguineous parents, autosomal recessive inheritance is often present, especially if siblings are also affected. In a cooperation project with Philadelphia University in Amman, we have already recruited over 100 families with developmental delays and carried out exome sequencing to achieve a genetic diagnosis. We are currently investigating the entire genome and transcriptome for some of the unsolved cases in order to identify further pathogenic variants.
    Previously undescribed candidate genes are being further characterized for their function and the identified mutations are being confirmed as the cause of the disease.
    The initial cooperation project was funded by the German Academic Exchange Service (DAAD).
  • EpiProspects: Evaluating prospects of epigenome profiling in unsolved syndromal cases (DFG project number 458884080)
  • seit Juni 2015
    Junior Research Group Leader AG Mental Retardation
  • August 2011 - Mai 2015
    PhD, Friedrich-Alexander University Erlangen-Nuremberg, Institute of Human Genetics; Supervision: Professor Dr. med. André Reis and PD Dr. med. Rami Abou Jamra; Topic: Identification and characterization of the candidate genes FAR1, EDC3, HMG20A and FRRS1L in individuals with autosomal recessive mental retardation
  • Oktober 2006 - Mai 2011
    Diploma in Molecular Medicine, Friedrich-Alexander University Erlangen-Nuremberg
  • November 2009 - Februar 2010
    Internship semester, Karolinska Institutet Stockholm, Department for Bioscience and Nutrition
  • September 1997 - Juni 2006
    Abitur, Gymnasium English Institute Heidelberg
  • Buchert R*, Burkhalter MD*, Huridou C, Sofan L, Roser T, Cremer K, Alvi JR, Efthymiou S, Froukh T, Gulieva S, Guliyeva U, Hamdallah M, Holder-Espinasse M, Kaiyrzhanov R, Klingler D, Koko M, Matthies L, Park J, Sturm M, Velic A, Spranger S, Sultan T, Engels H, Lerche H, Houlden H, Pagnamenta AT, Borggraefe I, Weber Y, Bonnen PE, Maroofian R, Riess O, Weber JJ, Philipp M*, Haack TB*. Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy. Am J Hum Genet. 2025 Jan
  • Laugwitz L*, Buchert R*, Olguín P*, Estiar MA, Atanasova M, Jr WM, Enssle J, Marsden B, Avilés J, González-Gutiérrez A, Candia N, Fabiano M, Morlot S, Peralta S, Groh A, Schillinger C, Kuehn C, Sofan L, Sturm M, Bender B, Tomaselli PJ, Diebold U, Mueller AJ, Spranger S, Fuchs M, Freua F, Melo US, Mattas L, Ashtiani S, Suchowersky O, Groeschel S, Rouleau GA, Yosovich K, Michelson M, Leibovitz Z, Bilal M, Uctepe E, Yesilyurt A, Ozdogan O, Celik T, Krägeloh-Mann I, Riess O, Rosewich H, Umair M, Lev D, Zuchner S, Schweizer U, Lynch DS, Gan-Or Z, Haack TB. EEFSEC deficiency: A selenopathy with early-onset neurodegeneration. Am J Hum Genet. 2025 Jan 2;112(1):168-180.
  • Buchert R*, Schenk E*, Hentrich T, Weber N, Rall K, Sturm M, Kohlbacher O, Koch A, Rieß O Brucker SY, Schulze-Hentrich JM. Genome sequencing and transcriptome profiling in twins discordant for Mayer-Rokitansky-Küster-Hauser syndrome. Journal of Clinical Medicine 2022 Sep 23;11(19):5598.
  • Laugwitz L*, Buchert R*, Groeschel S, Riess A, Grimmel M, Beck-Wödl S, Sturm M, Gohla G, Döbler-Neumann M, Krägeloh-Mann I, Haack TB. Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology? Eur J Med Genet. 2020 Jul;63(7):103938.
  • Froukh T, Nafie O, Al Hait SAS, Laugwitz L, Sommerfeld J, Sturm M, Baraghiti A, Issa T, Al-Nazer A, Koch PA, Hanselmann J, Kootz B, Bauer P, Al-Ameri W, Abou Jamra R, Alfrook AJ, Hamadallah M, Sofan L, Riess A, Haack TB, Riess O, Buchert R. Genetic basis of neurodevelopmental disorders in 103 Jordanian families. Clin Genet. 2020 Apr;97(4):621-627.
  • Harmsen S*, Buchert R*, Mayatepek E, Haack TB, Distelmaier F Bain type of X-linked syndromic mental retardation (MRXSB) in boys Clinical Genetics 2019 Jun;95(6):734-735
  • Han C*, Alkhater R*, Froukh T*, Minassian AG, Galati M, Liu RH, Fotouhi M, Sommerfeld J, Alfrook AJ, Marshall C, Walker S, Bauer P, Scherer SW, Riess O, Buchert R*, Minassian BA*, McPherson PS*. Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A. American Journal of Human Genetics, 2016 Dec 1;99(6):1359-1367.
  • Buchert R, Nesbitt AI, Tawamie H, Krantz ID, Medne L, Helbig I, Matalon DR, Reis A, Santani A, Sticht H, Abou Jamra R. SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss. Orphanet Journal of Rare Diseases 2016 Sep 29;11(1):130
  • Ahmad I*, Buchert R*, Zhou M*, Jiao X*, Mittal K, Scheller U, Vasli N, Arshad M, Brohi M, Mikhailov A, Ayaz M, Bhatti A, Sticht H, Nasr T, Carter M, Uebe S, Reis A, Ayub M, John P, Vincent J, Kiledjian M, Abou Jamra R. Mutations in DCPS and EDC3 in Autosomal Recessive Intellectual Disability Indicate a Crucial Role for mRNA Decapping in Neurodevelopment. Human Molecular Genetics, 2015 Jun 1;24(11):3172-80.
  • Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, Sticht H, Schwarze B, Lamont RE, Parboosingh JS, Bernier FP, and Abou Jamra R. A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to Fatty Acyl-CoA Reductase 1 deficiency. American Journal of Human Genetics, 2014 Nov;95(5):602-610.
  • Buchert R, Uebe S, Radwan F, Tawamie H, Issa S, Shimazaki H, Henneke M, Ekici AB, Reis A, Abou Jamra R. Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation. European Journal of Medical Genetics, 2013 Nov;56(11):599-602.
  • Brechet A*, Buchert R, Schwenk J*, Boudkkazi S*, Zolles G, Siquier-Pernet K, Saadi A, Bole-Feysot C, Nitschke P, Reis A, Sticht H, Al-Sanna'a N, Rolfs A, Schulte U, Colleaux L, Abou Jamra R, Fakler B. AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability. Nature Communications 2017 Jul 15910
  • Laugwitz L, Cheng F, Collins SC, Hustinx A, Navarro N, Welsch S, Cox H, Hsieh TC, Vijayananth A, Buchert R, Bender B, Efthymiou S, Murphy D, Zafar F, Rana N, Grasshoff U, Falb RJ, Grimmel M, Seibt A, Zheng W, Ghaedi H, Thirion M, Couette S, Azizimalamiri R, Sadeghian S, Galehdari H, Zamani M, Zeighami J, Sedaghat A, Ramshe SM, Zare A, Alipoor B, Klee D, Sturm M, Ossowski S, Houlden H, Riess O, Wieczorek D, Gavin R, Maroofian R, Krawitz P, Yalcin B, Distelmaier F, Haack TB. ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations. Brain 2024 Feb 22:awae058.
  • Bilal M, Haack TB, Buchert R, Peralta S, Ahmad I, Faisal, Abbasi S, Ahmad W. Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation. Mol Syndromol. 2023 Dec;14(6):469-476.
  • Scorrano G, D'Onofrio G, Accogli A, Severino M, Buchert R, Kotzaeridou U, Iapadre G, Farello G, Iacomino M, Dono F, Di Francesco L, Fiorile MF, La Bella S, Corsello A, Calì E, Di Rosa G, Gitto E, Verrotti A, Fortuna S, Soler MA, Chiarelli F, Oehl-Jaschkowitz B, Haack TB, Zara F, Striano P, Salpietro V. A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children. Pediatr Neurol. 2023 Dec;149:84-92.
  • Bilal M, Khan H, Khan MJ, Haack TB, Buchert R, Liaqat K, Ullah K, Ahmed S, Bharadwaj T, Acharya A, Peralta S, Najumuddin, Ali H, Hasni MS, Schrauwen I, Ullah A, Ahmad W, Leal SM. Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly. Eur J Hum Genet. 2023 Nov;31(11):1270-1274.
  • Schroeder C, Faust U, Krauße L, Liebmann A, Abele M, Demidov G, Schütz L, Kelemen O, Pohle A, Gauß S, Sturm M, Roggia C, Streiter M, Buchert R, Armenau-Ebinger S, Nann D, Beschorner R, Handgretinger R, Ebinger M, Lang P, Holzer U, Skokowa J, Ossowski S, Haack TB, Mau-Holzmann U, Dufke A, Riess O, Brecht IB. Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in pediatric tumor patients. Eur J Hum Genet. 2023 Oct;31(10):1139-1146.
  • Bilal M, Haack TB, Buchert R, Peralta S, Uddin N, Ali RJ, Liaqat K, Ahmad W. Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly. Mol Syndromol. 2023 Jun;14(3):201-207.doi: 10.1159/000528651.
  • Witt D, Faust U, Strobl-Wildemann G, Sturm M, Buchert R, Zuleger T, Admard J, Casadei N, Ossowski S, Haack TB , Rieß O, Schroeder C. Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome. Mol Genet Genomic Med. 2023 Jun;11(6):e2151.
  • Dufke A, Hoopmann M, Waldmüller S, Prodan NC, Beck-Wödl S, Grasshoff U, Heinrich T, Riess A, Kehrer M, Falb RJ, Liebmann A, Roggia C, Stampfer M, Schadeck M, Müller AJ, Grimmel M, Stöbe P, Gauck D, Buchert R, Baumann S, Schäferhoff K, Bertrand M, Menden B, Sturm M, Schütz L, Riess O, Ossowski S, Haack TB, Kagan KO. A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies. Prenatal Diagnostics 2022 Jun;42(7):901-910.
  • Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. Nature Communications 2022 Apr 28;13(1):2306.
  • Bauer G, Buchert R, Haack TB, Harting I, Gutschalk A. CCDC82 frameshift mutation associated with intellectual disability, spastic paraparesis, and dysmorphic features. Clinical Genetics 2022 Jul;102(1):80-81.
  • Falb RJ, Müller AJ, Klein W, Grimmel M, Grasshoff U, Spranger S, Stöbe P, Gauck D, Kuechler A, Dikow N, Schwaibold EMC, Schmidt C, Averdunk L, Buchert R, Heinrich T, Prodan N, Park J, Kehrer M, Sturm M, Kelemen O, Hartmann S, Horn D, Emmerich D, Hirt N, Neumann A, Kristiansen G, Gembruch U, Haen S, Siebert R, Hentze S, Hoopmann M, Ossowski S, Waldmüller S, Beck-Wödl S, Gläser D, Tekesin I, Distelmaier F, Riess O, Kagan KO, Dufke A, Haack TB. Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex. Journal of Medical Genetics 2021 Nov 5;jmedgenet-2021-108064.
  • Laugwitz L, Seibt A, Herebian D, Peralta S, Kienzle I, Buchert R, Falb R, Gauck D, Müller AJ, Grimmel M, Beck-Woedel S, Kern J, Daliri K, Katibeh P, Danhauser K, Leiz S, Alesi V, Baertling F, Vasco G, Steinfeld R, Wagner M, Caglayan AO, Gumus H, Burmeister M, Mayatepek E, Martinelli D, Tamhankar PM, Tamhankar V, Joset P, Steindl K, Rauch A, Bonnen PE, Froukh T, Groeschel S, Krägeloh-Mann I, Haack TB, Distelmaier F. Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. Journal of Medical Genetics 2021 Oct 16;jmedgenet-2021-107729.
  • Rapp CK, Van Dijck I, Laugwitz L, Boon M, Briassoulis G, Ilia S, Kammer B, Reu S, Hornung S, Buchert R, Sofan L, Froukh T, Witters P, Rymen D, Haack TB, Proesmans M, Griese M. Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy. Clinical Genetics 2021 Oct;100(4):453-461.
  • Gburek-Augustat J, Schoene-Bake JC, Bültmann E, Haack TB, Buchert R, Synofzik M, Biskup S, Feuerhake F, Sorge I, Hartmann H. Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential. Neuropediatrics. 2021 Aug;52(4):274-283.
  • Hauf K, Barsch L, Bauer D, Buchert R, Armbruster A, Frauenfeld L, Grasshoff U, Eulenburg V. GlyT1 encephalopathy: Characterization of presumably disease causing GlyT1 mutations. Neurochemistry International 2020 Oct; 139:104813.
  • Vera G, Sorlin A, Delplancq G, Lecoquierre F, Brasseur-Daudruy M, Petit F, Smol T, Ziegler A, Bonneau D, Colin E, Mercier S, Cogné B, Bézieau S, Edery P, Lesca G, Chatron N, Sabatier I, Duban-Bedu B, Colson C, Piton A, Durand B, Capri Y, Perrin L, Wiesener A, Zweier C, Maroofian R, Carroll CJ, Galehdari H, Mazaheri N, Callewaert B, Giulianno F, Zaafrane-Khachnaoui K, Buchert R, Haack TB, Magg J, Rieß A, Blandfort M, Waldmüller S, Horber V, Leonardi E, Polli R, Turolla L, Murgia A, Frebourg T, Lebre AS, Nicolas G, Saugier-Veber P, Guerrot AM. Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND). European Journal of Medical Genetics 2020 Oct;63(10):104004.
  • Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostásy K, Radelfahr F, Bevot A, Döbler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng ACH, Chiang D, Bolduc F, Tafakhori A, Mane S, Firouzabadi SG, Huebner AK, Buchert R, Beck-Woedl S, Müller AJ, Laugwitz L, Nägele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hübner CA, Deschauer M, Mayr JA, Bonnen PE, Krägeloh-Mann I, Wortmann SB, Haack TB. Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. American Journal of Human Genetics 2020 Aug 6;107(2):364-373.
  • Hengel H, Buchert R, Sturm M, Haack TB, Schelling Y, Mahajnah M, Sharkia R, Azem A, Balousha G, Ghanem Z, Falana M, Balousha O, Ayesh S, Keimer R, Deigendesch W, Zaidan J, Marzouqa H, Bauer P, Schöls L. First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. European Journal of Human Genetics 2020 Aug;28(8):1034-1043.
  • Mayer AK, Balousha G, Sharkia R, Mahajnah M, Ayesh S, Schulze M, Buchert R, Zobor D, Azem A, Schöls L, Bauer P, Wissinger B. Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority. European Journal of Human Genetics 2020 Jun;28(6):742-753.
  • Schmidt T, Buchert, R, Mau-Holzmann U. Integration of modern teaching methods into human genetics teaching in Tübingen. Medical Genetics 2019 Dec;31, 313-319.
  • Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CTE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Schöls L, Michaud JL, Campeau PM, Haack TB, Dumont NA. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genetics in Medicine 2019 Nov;21(11):2521-2531.
  • O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A, Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden Jr H, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. American Journal of Human Genetics 2019 Jun 6;104(6):1210-1222.
  • Nafi O, Ramadan B, Riess O, Buchert R, Froukh T. Two cases of variant late infantile ceroid lipofuscinosis in Jordan. World J Clin Cases. 2019 Jan 26;7(2):203-208.
  • Beck-Wödl S, Harzer K, Sturm M, Buchert R, Rieß O, Mennel HD, Latta E, Pagenstecher A, Keber U. Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)? Acta Neuropathol Commun. 2018 Dec 27;6(1):145.
  • Helal M, Mazaheri N, Shalbafan B, Malamiri RA, Dilaver N, Buchert R, Mohammadiasl J, Golchin N, Sedaghat A, Mehrjardi MYV, Haack TB, Riess O, Chung WK, Galehdari H, Shariati G, Maroofian R. Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant. Neurol Sci. 2018 Nov;39(11):1917-1925.
  • Gregor A, Sadleir L, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager L, Boonsawat P, Bruel A, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Henderson A, Isidor B, Joset P, Kumada S, Lachmeijer A, Lees M, Lynch S, Martinez F, Matsumoto N, Mefford H, Miyake N, Myers C, Moutton S, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Sarkar A, Scheffer I, Shinawi M, Steindl K, Symonds J, University of Washington Center for Mendelian Genomics, DDD Study, Reis A, Sticht H, Zweier C. De novo variants in the F-box protein FBXO11 cause a variable neurodevelopmental disorder. American Journal of Human Genetics 2018 Aug 2;103(2):305-316.
  • Laugwitz L, Redler S, Buchert R, Sturm M, Zeile I, Schara U, Wieczorek D, Haack TB, Distelmaier F. Isolated PREPL deficiency associated with congenital myasthenic syndrome-22. Klin Padiatr. 2018 Sep;230(5):281-283.
  • Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, Hirsch FW, Schumacher J, Ferrazzi F, Sticht H, Reis A, Davidson I, Colombo R, Abou Jamra R. Hypomorphic pathogenic variants of TAF13 are associated with autosomal recessive intellectual disability and microcephaly. American Journal of Human Genetics, 2017 Mar;100(3):555-561.
  • Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R. Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. JAMA Psychiatry, 2017 Jan, doi:10.1001/jamapsychiatry.2016.3798
  • Riecken LB, Tawamie H, Dornblut C, Buchert R, Ismayel A, Schulz A, Schumacher J, Sticht H, Pohl KJ, Cui Y, Reis A, Morrison H, Abou Jamra R. Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability. Hum Mutat. 2015 Feb;36(2):270-8.
  • Murakami Y, Tawamie H, Maeda Y, Büttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Abou Jamra R. Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. PLoS Genetics, 2014 May 1;10(5):e1004320.
  • Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nöthen MM, Bennett EP, Maeda Y, Aigner M, Reis A, Kinoshita T, Tommerup N, Baig SM, Abou Jamra R. Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. American Journal of Human Genetics, 2013 Apr 4;92(4):575-83.
  • Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet. 2011 Jun 10;88(6):788-795.