Research ExplorerScientific StaffKerstin Kutsche Publications

Prof. Dr. ID: 40416

Kerstin Kutsche

graph of relations
Affiliations
1 - 138 out of 138Page size: 500

Publications

  1. 2023

  2. de novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

    Harms, F. L., Dingemans, A. J. M., Hempel, M., Pfundt, R., Bierhals, T., Casar, C., Müller, C., Niermeijer, J-M. F., Fischer, J., Jahn, A., Hübner, C., Majore, S., Agolini, E., Novelli, A., van der Smagt, J., Ernst, R., van Binsbergen, E., Mancini, G. M. S., van Slegtenhorst, M., Barakat, T. S., Wakeling, E. L., Kamath, A., Downie, L., Pais, L., White, S. M., de Vries, B. B. A. & Kutsche, K., 10.2023, In: GENET MED. 25, 10, p. 100927

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

    Engel, C., Valence, S., Delplancq, G., Maroofian, R., Accogli, A., Agolini, E., Alkuraya, F. S., Baglioni, V., Bagnasco, I., Becmeur-Lefebvre, M., Bertini, E., Borggraefe, I., Brischoux-Boucher, E., Bruel, A-L., Brusco, A., Bubshait, D. K., Cabrol, C., Cilio, M. R., Cornet, M-C., Coubes, C., Danhaive, O., Delague, V., Denommé-Pichon, A-S., Di Giacomo, M. C., Doco-Fenzy, M., Engels, H., Cremer, K., Gérard, M., Gleeson, J. G., Heron, D., Goffeney, J., Guimier, A., Harms, F. L., Houlden, H., Iacomino, M., Kaiyrzhanov, R., Kamien, B., Karimiani, E. G., Kraus, D., Kuentz, P., Kutsche, K., Lederer, D., Massingham, L., Mignot, C., Morris-Rosendahl, D., Nagarajan, L., Odent, S., Ormières, C., Partlow, J. N., Pasquier, L., Penney, L., Philippe, C., Piccolo, G., Poulton, C., Putoux, A., Rio, M., Rougeot, C., Salpietro, V., Scheffer, I., Schneider, A., Srivastava, S., Straussberg, R., Striano, P., Valente, E. M., Venot, P., Villard, L., Vitobello, A., Wagner, J., Wagner, M., Zaki, M. S., Zara, F., Lesca, G., Yassaee, V. R., Miryounesi, M., Hashemi-Gorji, F., Beiraghi, M., Ashrafzadeh, F., Galehdari, H., Walsh, C., Novelli, A., Tacke, M., Sadykova, D., Maidyrov, Y., Koneev, K., Shashkin, C., Capra, V., Zamani, M., Van Maldergem, L., Burglen, L. & Piard, J., 09.2023, In: EUR J HUM GENET. 31, 9, p. 1023-1031 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  4. TMCO3, a Putative K+ :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans

    Holling, T., Brylka, L. J., Scholz, T., Bierhals, T., Herget, T., Meinecke, P., Schinke, T., Oheim, R. & Kutsche, K., 09.2023, In: J BONE MINER RES. 38, 9, p. 1334-1349 16 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency

    Block, J., Rashkova, C., Castanon, I., Zoghi, S., Platon, J., Ardy, R. C., Fujiwara, M., Chaves, B., Schoppmeyer, R., van der Made, C. I., Jimenez Heredia, R., Harms, F. L., Alavi, S., Alsina, L., Sanchez Moreno, P., Ávila Polo, R., Cabrera-Pérez, R., Kostel Bal, S., Pfajfer, L., Ransmayr, B., Mautner, A-K., Kondo, R., Tinnacher, A., Caldera, M., Schuster, M., Domínguez Conde, C., Platzer, R., Salzer, E., Boyer, T., Brunner, H. G., Nooitgedagt-Frons, J. E., Iglesias, E., Deyà-Martinez, A., Camacho-Lovillo, M., Menche, J., Bock, C., Huppa, J. B., Pickl, W. F., Distel, M., Yoder, J. A., Traver, D., Engelhardt, K. R., Linden, T., Kager, L., Hannich, J. T., Hoischen, A., Hambleton, S., Illsinger, S., Da Costa, L., Kutsche, K., Chavoshzadeh, Z., van Buul, J. D., Antón, J., Calzada-Hernández, J., Neth, O., Viaud, J., Nishikimi, A., Dupré, L. & Boztug, K., 10.08.2023, In: NEW ENGL J MED. 389, 6, p. 527-539 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  6. A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a

    Harms, F. L., Weiss, D., Lisfeld, J., Alawi, M. & Kutsche, K., 07.2023, In: NEUROGENETICS. 24, 3, p. 171-180 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  7. INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms

    Hecher, L., Harms, F. L., Lisfeld, J., Alawi, M., Denecke, J. & Kutsche, K., 04.2023, In: NEUROGENETICS. 24, 2, p. 79-93 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature

    Abdelrazek, I. M., Holling, T., Harms, F. L., Alawi, M., Omar, T., Abdalla, E. & Kutsche, K., 03.2023, In: EUR J MED GENET. 66, 3, p. 104715

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  9. 2022

  10. Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain

    Tibbe, D., Ferle, P., Krisp, C., Nampoothiri, S., Mirzaa, G., Assaf, M., Parikh, S., Kutsche, K. & Kreienkamp, H-J., 10.2022, In: LIFE SCI ALLIANCE. 5, 10, e202201512.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  11. Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)

    Holling, T., Lisfeld, J., Johannsen, J., Matschke, J., Song, F., Altmeppen, H. C. & Kutsche, K., 09.2022, In: HUM MUTAT. 43, 9, p. 1224-1233 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  12. Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

    Dahimene, S., von Elsner, L., Holling, T., Mattas, L. S., Pickard, J., Lessel, D., Pilch, K. S., Kadurin, I., Pratt, W. S., Zhulin, I. B., Dai, H., Hempel, M., Ruzhnikov, M. R. Z., Kutsche, K. & Dolphin, A. C., 27.08.2022, In: BRAIN. 145, 8, p. 2721-2729 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  13. Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel

    Bauer, C. K., Holling, T., Horn, D., Laço, M. N., Abdalla, E., Omar, O. M., Alawi, M. & Kutsche, K., 26.08.2022, In: INT J MOL SCI. 23, 17, 9690.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  14. Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype

    Abdalla, E., Alawi, M., Meinecke, P., Kutsche, K. & Harms, F. L., 08.2022, In: AM J MED GENET A. 188, 8, p. 2448-2453 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  15. Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation

    von Elsner, L., Chai, G., Schneeberger, P. E., Harms, F. L., Casar, C., Qi, M., Alawi, M., Abdel-Salam, G. M. H., Zaki, M. S., Arndt, F., Yang, X., Stanley, V., Hempel, M., Gleeson, J. G. & Kutsche, K., 24.05.2022, In: BRAIN. 145, 4, p. 1551-1563 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia

    Holling, T., Bhavani, G. S., von Elsner, L., Shah, H., Kausthubham, N., Bhattacharyya, S. S., Shukla, A., Mortier, G. R., Schinke, T., Danyukova, T., Pohl, S., Kutsche, K. & Girisha, K. M., 05.2022, In: HUM MUTAT. 43, 5, p. 625-642 18 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  17. Novel biallelic variants expand the SLC5A6-related phenotypic spectrum

    Holling, T., Nampoothiri, S., Tarhan, B., Schneeberger, P. E., Vinayan, K. P., Yesodharan, D., Roy, A. G., Radhakrishnan, P., Alawi, M., Rhodes, L., Girisha, K. M., Kang, P. B. & Kutsche, K., 04.2022, In: EUR J HUM GENET. 30, 4, p. 439-449 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  18. 2021

  19. Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III

    Di Lorenzo, G., Westermann, L. M., Schinke, T., Stürznickel, J., Ludwig, N. F., Ammer, L. S., Baranowsky, A., Ahmadi, S., Pourbarkhordariesfandabadi, E., Breyer, S. R., Board, T. N., Foster, A., Mercer, J., Tylee, K., Velho, R. V., Schweizer, M., Renné, T., Braulke, T., Randon, D. N., Sperb-Ludwig, F., de Camargo Pinto, L. L., Moreno, C. A., Cavalcanti, D. P., Amling, M., Kutsche, K., Winter, D., Muschol, N. M., Schwartz, I. V. D., Rolvien, T., Danyukova, T., Schinke, T. & Pohl, S., 12.2021, In: GENET MED. 23, 12, p. 2369-2377 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  20. Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies

    Gripp, K. W., Smithson, S. F., Scurr, I. J., Baptista, J., Majumdar, A., Pierre, G., Williams, M., Henderson, L. B., Wentzensen, I. M., McLaughlin, H., Leeuwen, L., Simon, M. E. H., van Binsbergen, E., Dinulos, M. B. P., Kaplan, J. D., McRae, A., Superti-Furga, A., Good, J-M. & Kutsche, K., 09.2021, In: EUR J HUM GENET. 29, 9, p. 1384-1395 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  21. CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

    El Ghaleb, Y., Schneeberger, P. E., Fernández-Quintero, M. L., Geisler, S. M., Pelizzari, S., Polstra, A. M., van Hagen, J. M., Denecke, J., Campiglio, M., Liedl, K. R., Stevens, C. A., Person, R. E., Rentas, S., Marsh, E. D., Conlin, L. K., Tuluc, P., Kutsche, K. & Flucher, B. E., 17.08.2021, In: BRAIN. 144, 7, p. 2092-2106 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  22. MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

    Knapp, K. M., Jenkins, D. E., Sullivan, R., Harms, F. L., von Elsner, L., Ockeloen, C. W., de Munnik, S., Bongers, E. M. H. F., Murray, J., Pachter, N., Denecke, J., Kutsche, K. & Bicknell, L. S., 07.2021, In: EUR J HUM GENET. 29, 7, p. 1110-1120 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  23. Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

    Ziegler, A., Duclaux-Loras, R., Revenu, C., Charbit-Henrion, F., Begue, B., Duroure, K., Grimaud, L., Guihot, A. L., Desquiret-Dumas, V., Zarhrate, M., Cagnard, N., Mas, E., Breton, A., Edouard, T., Billon, C., Frank, M., Colin, E., Lenaers, G., Henrion, D., Lyonnet, S., Faivre, L., Alembik, Y., Philippe, A., Moulin, B., Reinstein, E., Tzur, S., Attali, R., McGillivray, G., White, S. M., Gallacher, L., Kutsche, K., Schneeberger, P., Girisha, K. M., Nayak, S. S., Pais, L., Maroofian, R., Rad, A., Vona, B., Karimiani, E. G., Lekszas, C., Haaf, T., Martin, L., Ruemmele, F., Bonneau, D., Cerf-Bensussan, N., Del Bene, F. & Parlato, M., 03.06.2021, In: AM J HUM GENET. 108, 6, p. 1126-1137 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  24. Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis

    Schneeberger, P. E., Nampoothiri, S., Holling, T., Yesodharan, D., Alawi, M., Knisely, A. S., Müller, T., Plecko, B., Janecke, A. R. & Kutsche, K., 26.05.2021, In: BRAIN. 2021, awab206

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  25. EBF3 Neurodevelopmental Disorder

    Narayanan, D. L., Kutsche, K. & Girisha, K. M., 06.05.2021, GeneReviews®. 1 ed. Seattle: University of Washington, Seattle, Vol. 1993-2021. p. 1-9 9 p. (GeneReviews® [Internet]).

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review

  26. Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization

    Pan, Y. E., Tibbe, D., Harms, F. L., Reißner, C., Becker, K., Dingmann, B., Mirzaa, G., Kattentidt-Mouravieva, A. A., Shoukier, M., Aggarwal, S., Missler, M., Kutsche, K. & Kreienkamp, H-J., 05.2021, In: J NEUROCHEM. 157, 4, p. 1331-1350 20 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  27. Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2

    Kloth, K., Neu, A., Rau, I., Hülsemann, W., Kutsche, K. & Volk, A. E., 03.2021, In: EUR J MED GENET. 64, 3, 104161.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  28. Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

    Nayak, S. S., Schneeberger, P. E., Patil, S. J., Arun, K. M., Suresh, P. V., Kiran, V. S., Siddaiah, S., Maiya, S., Venkatachalagupta, S. K., Kausthubham, N., Kortüm, F., Rau, I., Wey-Fabrizius, A., Van Den Heuvel, L., Meester, J., Van Laer, L., Shukla, A., Loeys, B., Girisha, K. M. & Kutsche, K., 12.01.2021, In: SCI REP-UK. 11, 1, 764.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  29. Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

    Lissewski, C., Chune, V., Pantaleoni, F., De Luca, A., Capri, Y., Brinkmann, J., Lepri, F., Daniele, P., Leenders, E., Mazzanti, L., Scarano, E., Radio, F. C., Kutsche, K., Kuechler, A., Gérard, M., Ranguin, K., Legendre, M., Vial, Y., van der Burgt, I., Rinne, T., Andreucci, E., Mastromoro, G., Digilio, M. C., Cave, H., Tartaglia, M. & Zenker, M., 01.2021, In: EUR J HUM GENET. 29, 1, p. 51-60 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  30. Das Marfan-Syndrom als genetisch bedingte Aortenerkrankung

    von Kodolitsch, Y., Schüler, H., Kutsche, K., Vogler, M. & Szöcs, K., 2021, In: Herzblatt. 2021, 1, p. 10-13

    Research output: SCORING: Contribution to journal › Newspaper articles › Transfer

  31. 2020

  32. A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration

    Polovitskaya, M. M., Barbini, C., Martinelli, D., Harms, F. L., Cole, F. S., Calligari, P., Bocchinfuso, G., Stella, L., Ciolfi, A., Niceta, M., Rizza, T., Shinawi, M., Sisco, K., Johannsen, J., Denecke, J., Carrozzo, R., Wegner, D. J., Kutsche, K., Tartaglia, M. & Jentsch, T. J., 03.12.2020, In: AM J HUM GENET. 107, 6, p. 1062-1077 16 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  33. Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

    Schneeberger, P. E., von Elsner, L., Barker, E. L., Meinecke, P., Marquardt, I., Alawi, M., Steindl, K., Joset, P., Rauch, A., Zwijnenburg, P. J. G., Weiss, M. M., Merry, C. L. R. & Kutsche, K., 03.12.2020, In: AM J HUM GENET. 107, 6, p. 1044-1061 18 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  34. Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2

    Schneeberger, P. E., Nayak, S. S., Fuchs, S., Kutsche, K. & Girisha, K. M., 11.2020, In: AM J MED GENET A. 182, 11, p. 2793-2796 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  35. Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth

    Harms, F. L., Parthasarathy, P., Zorndt, D., Alawi, M., Fuchs, S., Halliday, B. J., McKeown, C., Sampaio, H., Radhakrishnan, N., Radhakrishnan, S. K., Gorce, M., Navet, B., Ziegler, A., Sachdev, R., Robertson, S. P., Nampoothiri, S. & Kutsche, K., 09.2020, In: HUM MUTAT. 41, 9, p. 1645-1661 17 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  36. Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants

    Kortüm, F., Niceta, M., Magliozzi, M., Kubat, K. D., Robertson, S. P., Moresco, A., Dentici, M. L., Baban, A., Leoni, C., Onesimo, R., Obregon, M. G., Digilio, M. C., Zampino, G., Novelli, A., Tartaglia, M. & Kutsche, K., 09.2020, In: EUR J MED GENET. 63, 9, p. 103996

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  37. Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature

    Rohdenburg, C., Liersch, J., Kutsche, K. & Schaller, J., 09.2020, In: AM J DERMATOPATH. 42, 9, p. 653-661 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  38. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

    Schneeberger, P. E., Kortüm, F., Korenke, G. C., Alawi, M., Santer, R., Woidy, M., Buhas, D., Fox, S., Juusola, J., Alfadhel, M., Webb, B. D., Coci, E. G., Abou Jamra, R., Siekmeyer, M., Biskup, S., Heller, C., Maier, E. M., Javaher-Haghighi, P., Bedeschi, M. F., Ajmone, P. F., Iascone, M., Peeters, H., Ballon, K., Jaeken, J., Rodríguez Alonso, A., Palomares-Bralo, M., Santos-Simarro, F., Meuwissen, M. E. C., Beysen, D., Kooy, R. F., Houlden, H., Murphy, D., Doosti, M., Karimiani, E. G., Mojarrad, M., Maroofian, R., Noskova, L., Kmoch, S., Honzik, T., Cope, H., Sanchez-Valle, A., Undiagnosed Diseases Network, Gelb, B. D., Kurth, I., Hempel, M. & Kutsche, K., 01.08.2020, In: BRAIN. 143, 8, p. 2437-2453 17 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  39. Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care

    Stark, V. C., Hensen, F., Kutsche, K., Kortüm, F., Olfe, J., Wiegand, P., von Kodolitsch, Y., Kozlik-Feldmann, R., Müller, G. C. & Mir, T. S., 15.07.2020, In: GENES-BASEL. 11, 7, p. 1-15 799.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  40. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

    Wang, H., Humbatova, A., Liu, Y., Qin, W., Lee, M., Cesarato, N., Kortüm, F., Kumar, S., Romano, M. T., Dai, S., Mo, R., Sivalingam, S., Motameny, S., Wu, Y., Wang, X., Niu, X., Geng, S., Bornholdt, D., Kroisel, P. M., Tadini, G., Walter, S. D., Hauck, F., Girisha, K. M., Calza, A-M., Bottani, A., Altmüller, J., Buness, A., Yang, S., Sun, X., Ma, L., Kutsche, K., Grzeschik, K-H., Betz, R. C. & Lin, Z., 02.07.2020, In: AM J HUM GENET. 107, 1, p. 34-45 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  41. Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa

    Chateau, A., Kutsche, K., Fuchs, S., Harms, F., Kruse, C-H. & Mosam, A., 07.2020, In: INT J DERMATOL. 59, 7, p. 864-866 3 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  42. Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia

    Xu, L., Harms, F. L., Chirasani, V. R., Pasek, D. A., Kortüm, F., Meinecke, P., Dokholyan, N. V., Kutsche, K. & Meissner, G., 05.2020, In: CELL CALCIUM. 87, p. 102182

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  43. A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

    Coste de Bagneaux, P., von Elsner, L., Bierhals, T., Campiglio, M., Johannsen, J., Obermair, G. J., Hempel, M., Flucher, B. E. & Kutsche, K., 03.2020, In: PLOS GENET. 16, 3, p. e1008625

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  44. 2019

  45. Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome

    Mühlstädt, K., De Backer, J., von Kodolitsch, Y., Kutsche, K., Muiño Mosquera, L., Brickwedel, J., Girdauskas, E., Mir, T. S., Mahlmann, A., Tsilimparis, N., Staebler, A., Schoof, L., Seidel, H., Berger, J., Bernhardt, A. M., Blankenberg, S., Kölbel, T., Detter, C., Szöcs, K. & Kaemmerer, H., 29.11.2019, In: J CLIN MED. 8, 12

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  46. de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation

    Schneeberger, P. E., Bierhals, T., Neu, A., Hempel, M. & Kutsche, K., 29.08.2019, In: SCI REP-UK. 9, 1, p. 12516

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  47. Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

    Renner, S., Schüler, H., Alawi, M., Kolbe, V., Rybczynski, M., Woitschach, R., Sheikhzadeh, S., Stark, V. C., Olfe, J., Roser, E., Seggewies, F. S., Mahlmann, A., Hempel, M., Hartmann, M. J., Hillebrand, M., Wieczorek, D., Volk, A. E., Kloth, K., Koch-Hogrebe, M., Abou Jamra, R., Mitter, D., Altmüller, J., Wey-Fabrizius, A., Petersen, C., Rau, I., Borck, G., Kubisch, C., Mir, T. S., von Kodolitsch, Y., Kutsche, K. & Rosenberger, G., 08.2019, In: GENET MED. 21, 8, p. 1832-1841 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  48. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations

    Velho, R. V., Harms, F. L., Danyukova, T., Ludwig, N. F., Friez, M. J., Cathey, S. S., Filocamo, M., Tappino, B., Güneş, N., Tüysüz, B., Tylee, K. L., Brammeier, K. L., Heptinstall, L., Oussoren, E., van der Ploeg, A. T., Petersen, C., Alves, S., Saavedra, G. D., Schwartz, I. V., Muschol, N., Kutsche, K. & Pohl, S., 07.2019, In: HUM MUTAT. 40, 7, p. 842-864 23 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  49. Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome

    Bauer, C. K., Schneeberger, P. E., Kortüm, F., Altmüller, J., Santos-Simarro, F., Baker, L., Keller-Ramey, J., White, S. M., Campeau, P. M., Gripp, K. W. & Kutsche, K., 06.06.2019, In: AM J HUM GENET. 104, 6, p. 1139-1157 19 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  50. Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

    Kloth, K., Bierhals, T., Johannsen, J., Harms, F. L., Juusola, J., Johnson, M. C., Grange, D. K. & Kutsche, K., 06.2019, In: HUM GENET. 138, 6, p. 625-634 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  51. The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

    Girisha, K. M., von Elsner, L., Neethukrishna, K., Muranjan, M., Shukla, A., Bhavani, G. S., Nishimura, G., Kutsche, K. & Mortier, G., 03.2019, In: HUM MUTAT. 40, 3, p. 299-309 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  52. P539 - Case-control study of cardiovascular outcome of Loeys-Dietz versus Marfan syndrome

    Szöcs, K., Mühlstädt, K., De Backer, J., Girdauskas, E., Kutsche, K., Blankenberg, S. & von Kodolitsch, Y., 2019, In: CLIN RES CARDIOL. 2019, 108 Supl 2

    Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

  53. 2018

  54. Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum

    Yesodharan, D., Büschenfelde, U. M. Z., Kutsche, K., Mohandas Nair, K. & Nampoothiri, S., 12.2018, In: INDIAN J PEDIATR. 85, 12, p. 1067-1072 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  55. Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body

    Harms, F. L., Nampoothiri, S., Kortüm, F., Thomas, J., Panicker, V. V., Alawi, M., Altmüller, J., Yesodharan, D. & Kutsche, K., 11.2018, In: BRIT J DERMATOL. 179, 5, p. 1192-1194 3 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  56. Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

    Harms, F. L., Kloth, K., Bley, A., Denecke, J., Santer, R., Lessel, D., Hempel, M. & Kutsche, K., 04.10.2018, In: AM J HUM GENET. 103, 4, p. 579-591 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  57. Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation

    Piard, J., Essien Umanah, G. K., Harms, F. L., Abalde-Atristain, L., Amram, D., Chang, M., Chen, R., Alawi, M., Salpietro, V., Rees, M. I., Chung, S-K., Houlden, H., Verloes, A., Dawson, T. M., Dawson, V. L., Van Maldergem, L. & Kutsche, K., 01.06.2018, In: BRAIN. 141, 6, p. e50

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  58. Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants

    Bierhals, T., Korenke, G. C., Baethmann, M., Marín, L. L., Staudt, M. & Kutsche, K., 06.2018, In: EUR J MED GENET. 61, 6, p. 329-334 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  59. Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

    Kortüm, F., Jamra, R. A., Alawi, M., Berry, S. A., Borck, G., Helbig, K. L., Tang, S., Huhle, D., Korenke, G. C., Hebbar, M., Shukla, A., Girisha, K. M., Steinlin, M., Waldmeier-Wilhelm, S., Montomoli, M., Guerrini, R., Lemke, J. R. & Kutsche, K., 05.2018, In: EUR J HUM GENET. 26, 5, p. 695-708 14 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  60. RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1

    Meyer Zum Büschenfelde, U., Brandenstein, L. I., von Elsner, L., Flato, K., Holling, T., Zenker, M., Rosenberger, G. & Kutsche, K., 05.2018, In: PLOS GENET. 14, 5, p. e1007370

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  61. Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation

    Danyel, M., Kortüm, F., Dathe, K., Kutsche, K. & Horn, D., 04.2018, In: AM J MED GENET A. 176, 4, p. 992-996 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  62. A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

    Piard, J., Umanah, G. K. E., Harms, F. L., Abalde-Atristain, L., Amram, D., Chang, M., Chen, R., Alawi, M., Salpietro, V., Rees, M. I., Chung, S-K., Houlden, H., Verloes, A., Dawson, T. M., Dawson, V. L., Van Maldergem, L. & Kutsche, K., 01.03.2018, In: BRAIN. 141, 3, p. 651-661 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  63. Elsahy-Waters syndrome is caused by biallelic mutations in CDH11

    Harms, F. L., Nampoothiri, S., Anazi, S., Yesodharan, D., Alawi, M., Kutsche, K. & Alkuraya, F. S., 02.2018, In: AM J MED GENET A. 176, 2, p. 477-482 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  64. The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

    Harms, F. L., Alawi, M., Amor, D. J., Tan, T. Y., Cuturilo, G., Lissewski, C., Brinkmann, J., Schanze, D., Kutsche, K. & Zenker, M., 02.2018, In: AM J MED GENET A. 176, 2, p. 470-476 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  65. 2017

  66. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

    Syrbe, S., Harms, F. L., Parrini, E., Montomoli, M., Mütze, U., Helbig, K. L., Polster, T., Albrecht, B., Bernbeck, U., van Binsbergen, E., Biskup, S., Burglen, L., Denecke, J., Heron, B., Heyne, H. O., Hoffmann, G. F., Hornemann, F., Matsushige, T., Matsuura, R., Kato, M., Korenke, G. C., Kuechler, A., Lämmer, C., Merkenschlager, A., Mignot, C., Ruf, S., Nakashima, M., Saitsu, H., Stamberger, H., Pisano, T., Tohyama, J., Weckhuysen, S., Werckx, W., Wickert, J., Mari, F., Verbeek, N. E., Møller, R. S., Koeleman, B., Matsumoto, N., Dobyns, W. B., Battaglia, D., Lemke, J. R., Kutsche, K. & Guerrini, R., 01.09.2017, In: BRAIN. 140, 9, p. 2322-2336 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  67. Genetic diagnostics of inherited aortic diseases: Medical strategy analysis

    Kodolitsch, Y. & Kutsche, K., 08.2017, In: HERZ. 42, 5, p. 459-467

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  68. Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases

    Groth, K. A., Kodolitsch, Y., Kutsche, K., Gaustadnes, M., Thorsen, K., Andersen, N. H. & Gravholt, C. H., 07.2017, In: GENET MED. 19, 7, p. 772-777

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  69. 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., Schröck, E., Kutsche, K. & Di Donato, N., 05.2017, In: AM J MED GENET A. 173, 5, p. 1334-1341

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  70. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

    Harms, F. L., Girisha, K. M., Hardigan, A. A., Kortüm, F., Shukla, A., Alawi, M., Dalal, A., Brady, L., Tarnopolsky, M., Bird, L. M., Ceulemans, S., Bebin, M., Bowling, K. M., Hiatt, S. M., Lose, E. J., Primiano, M., Chung, W. K., Juusola, J., Akdemir, Z. C., Bainbridge, M., Charng, W-L., Drummond-Borg, M., Eldomery, M. K., El-Hattab, A. W., Saleh, M. A. M., Bézieau, S., Cogné, B., Isidor, B., Küry, S., Lupski, J. R., Myers, R. M., Cooper, G. M. & Kutsche, K., 05.01.2017, In: AM J HUM GENET. 100, 1, p. 117-127

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  71. Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype

    Kortüm, F., Marquardt, I., Alawi, M., Korenke, G. C., Spranger, S., Meinecke, P. & Kutsche, K., 01.2017, In: PEDIATRICS. 139, 1, p. pii: e20160550

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  72. 2016

  73. Response to Calgani et al

    Zenker, M. & Kutsche, K., 12.2016, In: GENET MED. 18, 12, p. 1321

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Transfer

  74. Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome

    Shukla, A., Hebbar, M., Harms, F. L., Kadavigere, R., Girisha, K. M. & Kutsche, K., 11.2016, In: AM J MED GENET A. 170, 11, p. 2998-3003

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  75. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

    Girisha, K. M., Kortüm, F., Shah, H., Alawi, M., Dalal, A., Bhavani, G. S. & Kutsche, K., 01.08.2016, In: EUR J HUM GENET. 24, 8, p. 1206-10

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  76. Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis

    Vogel, M., Velleuer, E., Schmidt-Jiménez, L. F., Mayatepek, E., Borkhardt, A., Alawi, M., Kutsche, K. & Kortüm, F., 07.2016, In: AM J MED GENET A. 170, 7, p. 1813-9 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  77. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

    Kouz, K., Lissewski, C., Spranger, S., Mitter, D., Riess, A., Lopez-Gonzalez, V., Lüttgen, S., Aydin, H., von Deimling, F., Evers, C., Hahn, A., Hempel, M., Issa, U., Kahlert, A-K., Lieb, A., Villavicencio-Lorini, P., Ballesta-Martinez, M. J., Nampoothiri, S., Ovens-Raeder, A., Puchmajerová, A., Satanovskij, R., Seidel, H., Unkelbach, S., Zabel, B., Kutsche, K. & Zenker, M., 04.2016, In: GENET MED. 18, 12, p. 1226-1234

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  78. Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse

    Rippe, M., De Backer, J., Kutsche, K., Mosquera, L. M., Schüler, H., Rybczynski, M., Bernhardt, A. M., Keyser, B., Hillebrand, M., Mir, T. S., Berger, J., Blankenberg, S., Koschyk, D. & von Kodolitsch, Y., 03.2016, In: IJC HEART VASC. 10, p. 39–46 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  79. Clinical and genetic diagnosis of Marfan syndrome in childhood are Equal- FBN1 mutation should not influence handling of pediatric patients with confirmed Marfansyndrome

    Stark, V., Arndt, F., Harring, G., Keyser, B., von Kodolitsch, Y., Kozlik-Feldmann, R., Kutsche, K., Müller, G., Rybczynski, M. & Mir, T., 12.01.2016, In: J Integr Cardiol.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  80. Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients

    Girisha, K. M., Bidchol, A. M., Graul-Neumann, L., Gupta, A., Hehr, U., Lessel, D., Nader, S., Shah, H., Wickert, J. & Kutsche, K., 2016, In: BMC MED GENET. 17, p. 27

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  81. The role of the multidisciplinary health care team in the management of patients with Marfan syndrome

    von Kodolitsch, Y., Rybczynski, M., Vogler, M., Mir, T. S., Schüler, H., Kutsche, K., Rosenberger, G., Detter, C., Bernhardt, A. M., Larena-Avellaneda, A., Kölbel, T., Debus, E. S., Schroeder, M., Linke, S. J., Fuisting, B., Napp, B., Kammal, A. L., Püschel, K., Bannas, P., Hoffmann, B. A., Gessler, N., Vahle-Hinz, E., Kahl-Nieke, B., Thomalla, G., Weiler-Normann, C., Ohm, G., Neumann, S., Benninghoven, D., Blankenberg, S. & Pyeritz, R. E., 2016, In: J MULTIDISCIP HEALTH. 9, p. 587-614 28 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  82. Vererbung und Genetische Tests

    Kutsche, K., 2016, Das Marfan-Syndrom. M. H. D. E. V. (ed.). 1 ed. Springer, p. 47-56 10 p. 11

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Transfer

  83. 2015

  84. Interpretation of sequence variants of the FBN1 gene analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants

    von Kodolitsch, Y. & Kutsche, K., 09.2015, In: J HUM GENET. 60, 9, p. 465-466 2 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  85. Structure-function-behavior relationship in estrogen-induced synaptic plasticity

    Vierk, R., Bayer, J., Freitag, S., Muhia, M., Kutsche, K., Wolbers, T., Kneussel, M., Sommer-Blöchl, T. & Rune, G. M., 08.2015, In: HORM BEHAV. 74, p. 139-48 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  86. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

    Kortüm, F., Caputo, V., Bauer, C. K., Stella, L., Ciolfi, A., Alawi, M., Bocchinfuso, G., Flex, E., Paolacci, S., Dentici, M. L., Grammatico, P., Korenke, G. C., Leuzzi, V., Mowat, D., Nair, L. D. V., Nguyen, T. T. M., Thierry, P., White, S. M., Dallapiccola, B., Pizzuti, A., Campeau, P. M., Tartaglia, M. & Kutsche, K., 01.06.2015, In: NAT GENET. 47, 6, p. 661-7 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  87. Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

    Kratz, C. P., Franke, L., Peters, H., Kohlschmidt, N., Kazmierczak, B., Finckh, U., Bier, A., Eichhorn, B., Blank, C., Kraus, C., Kohlhase, J., Pauli, S., Wildhardt, G., Kutsche, K., Auber, B., Christmann, A., Bachmann, N., Mitter, D., Cremer, F. W., Mayer, K., Daumer-Haas, C., Nevinny-Stickel-Hinzpeter, C., Oeffner, F., Schlüter, G., Gencik, M., Überlacker, B., Lissewski, C., Schanze, I., Greene, M. H., Spix, C. & Zenker, M., 14.04.2015, In: BRIT J CANCER. 112, 8, p. 1392-7 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  88. Phenotypic and molecular insights into CASK-related disorders in males

    Moog, U., Bierhals, T., Brand, K., Bautsch, J., Biskup, S., Brune, T., Denecke, J., de Die-Smulders, C. E., Evers, C., Hempel, M., Henneke, M., Yntema, H., Menten, B., Pietz, J., Pfundt, R., Schmidtke, J., Steinemann, D., Stumpel, C. T., Van Maldergem, L. & Kutsche, K., 12.04.2015, In: ORPHANET J RARE DIS. 10, 1, p. 44

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  89. Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome

    van Rahden, V. A., Fernandez-Vizarra, E., Alawi, M., Brand, K., Fellmann, F., Horn, D., Zeviani, M. & Kutsche, K., 02.04.2015, In: AM J HUM GENET. 96, 4, p. 640-50 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  90. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

    Abdollahpour, H., Alawi, M., Kortüm, F., Beckstette, M., Seemanova, E., Komárek, V., Rosenberger, G. & Kutsche, K., 2015, In: EUR J HUM GENET. 23, 2, p. 256-259

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  91. 2014

  92. Dural ectasia in Loeys-Dietz Syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation

    Sheikhzadeh, S., Brockstädt, L., Habermann, C. R., Sondermann, C., Bannas, P., Mir, T. S., Staebler, A., Seidel, H., Keyser, B., Arslan-Kirchner, M., Kutsche, K., Berger, J., Blankenberg, S. & Kodolitsch, Y., 01.12.2014, In: CLIN GENET. 86, 6, p. 545-551 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  93. Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromes

    Hillebrand, M., Millot, N., Sheikhzadeh, S., Rybczynski, M., Gerth, S., Kölbel, T., Keyser, B., Kutsche, K., Robinson, P. N., Berger, J., Mir, T. S., Zeller, T., Blankenberg, S., Kodolitsch, Y. & Goldmann, B., 01.11.2014, In: CLIN CARDIOL. 37, 11, p. 672-679 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  94. Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome

    Danda, S., van Rahden, V. A., John, D., Paul, P., Raju, R., Koshy, S. & Kutsche, K., 01.08.2014, In: MOL SYNDROMOL. 5, 5, p. 251-6 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  95. Exom-Sequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg

    Kortüm, F., Abdollahpour, H., Alawi, M., Korenke, G. C., Seemanova, E., Tinschert, S., Zenker, M., Rosenberger, G. & Kutsche, K., 12.06.2014, In: MED GENET-BERLIN. 26, p. 246-254

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  96. A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

    Girisha, K. M., Abdollahpour, H., Shah, H., Bhavani, G. S., Graham, J. M., Boggula, V. R., Phadke, S. R. & Kutsche, K., 01.04.2014, In: AM J MED GENET A. 164A, 4, p. 1035-40 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  97. Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8

    Schmidt, T., Bierhals, T., Kortüm, F., Bartels, I., Liehr, T., Burfeind, P., Shoukier, M., Frank, V., Bergmann, C. & Kutsche, K., 01.01.2014, In: CYTOGENET GENOME RES. 142, 1, p. 1-6 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  98. Clinical spectrum of females with HCCS Mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

    van Rahden, V. A., Rau, I., Fuchs, S., Kosyna, F. K., de Almeida, H. L., Fryssira, H., Isidor, B., Jauch, A., Joubert, M., Lachmeijer, A. M. A., Zweier, C., Moog, U. & Kutsche, K., 01.01.2014, In: ORPHANET J RARE DIS. 9, 1, p. 53

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  99. Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation

    Sheikhzadeh, S., Sondermann, C., Rybczynski, M., Habermann, C. R., Brockstädt, L., Keyser, B., Kaemmerer, H., Mir, T., Staebler, A., Robinson, P. N., Kutsche, K., Berger, J., Blankenberg, S. & Kodolitsch, Y., 2014, In: CLIN GENET. 86, 3, p. 238-245

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  100. Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome

    de Almeida, H. L., Rossi, G., de Abreu, L. B., Bergamaschi, C., da Silva, A. B. & Kutsche, K., 2014, In: AN BRAS DERMATOL. 89, 1, p. 180-1 2 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  101. 2013

  102. Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci

    Chilian, B., Abdollahpour, H., Bierhals, T., Haltrich, I., Fekete, G., Nagel, I., Rosenberger, G. & Kutsche, K., 01.12.2013, In: CLIN GENET. 84, 6, p. 560-5 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  103. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition

    Brownstein, C. A., Towne, M. C., Luquette, L. J., Harris, D. J., Marinakis, N. S., Meinecke, P., Kutsche, K., Campeau, P. M., Yu, T. W., Margulies, D. M., Agrawal, P. B. & Beggs, A. H., 01.12.2013, In: EUR J MED GENET. 56, 12, p. 678-82 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  104. CASK-Related Disorders

    Moog, U., Uyanik, G. & Kutsche, K., 26.11.2013, In: GeneReviews®.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  105. A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm

    Leutermann, R., Sheikhzadeh, S., Brockstädt, L., Rybczynski, M., van Rahden, V., Kutsche, K., Kodolitsch, Y. & Rosenberger, G., 06.11.2013, In: EUR J HUM GENET. 22, p. 944-948

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  106. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations

    Bierhals, T., Korenke, G. C., Uyanik, G. & Kutsche, K., 01.06.2013, In: EUR J MED GENET. 56, 6, p. 325-30 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  107. Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome

    Hüning, I., Kutsche, K., Rajaei, S., Erlandsson, A., Lovmar, L., Rundberg, J. & Stefanova, M., 01.04.2013, In: EUR J MED GENET. 56, 4, p. 188-91 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  108. Estrogen and the male hippocampus: genetic variation in the aromatase gene predicting serum estrogen is associated with hippocampal gray matter volume in men

    Bayer, J., Rune, G., Kutsche, K., Schwarze, U., Kalisch, R., Büchel, C. & Sommer-Blöchl, T., 01.02.2013, In: HIPPOCAMPUS. 23, 2, p. 117-21 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  109. Expanding the phenotype associated with 17q12 duplication: case report and review of the literature

    Bierhals, T., Maddukuri, S. B., Kutsche, K. & Girisha, K. M., 01.02.2013, In: AM J MED GENET A. 161A, 2, p. 352-9 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  110. 2012

  111. Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features.

    Lozić, B., Ljubković, J., Pandurić, D. G., Saltvig, I., Kutsche, K., Krželj, V. & Zemunik, T., 01.12.2012, In: BRAZ J MED BIOL RES. 45, 12, p. 1315-1319 5 p., 12.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  112. Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.

    Dalal, A., Bhavani, G., Lakshmi, S., Bierhals, T., Bierhals, T., Nandineni, M. R., Danda, S., Danda, D., Shah, H., Vijayan, S., Gowrishankar, K., Phadke, S. R., Bidchol, A. M., Rao, A. P., Kutsche, K., Kutsche, K. & Girisha, K. M., 2012, In: AM J MED GENET A. 158A, 11, p. 2820-2828 11.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  113. Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.

    Ramakers, G. J. A., Wolfer, D., Rosenberger, G., Kuchenbecker, K., Kreienkamp, H-J., Prange-Kiel, J., Rune, G. M., Richter, K., Langnaese, K., Masneuf, S., Bösl, M. R., Fischer, K-D., Krugers, H. J., Lipp, H-P., van Galen, E. & Kutsche, K., 2012, In: HUM MOL GENET. 21, 2, p. 268-286 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  114. Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

    Indrieri, A., van Rahden, V., Alexandra, V., Tiranti, V., Morleo, M., Iaconis, D., Tammaro, R., D'Amato, I., Conte, I., Maystadt, I., Demuth, S., Kutsche, K., Kutsche, K., Zeviani, M. & Franco, B., 2012, In: AM J HUM GENET. 91, 5, p. 942-949 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  115. The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.

    van Rahden, V., Brand, K., Najm, J., Heeren, J., Heeren, J., Braulke, T., Kutsche, K. & Kutsche, K., 2012, In: HUM MOL GENET. 21, 23, p. 5019-5038 23.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  116. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

    Kim, H-G., Kim, H-T., Leach, N. T., Lan, F., Ullmann, R., Silahtaroglu, A., Kurth, I., Nowka, A., Seong, I. S., Shen, Y., Talkowski, M. E., Ruderfer, D., Lee, J-H., Glotzbach, C., Ha, K., Kjaergaard, S., Levin, A. V., Romeike, B. F., Kleefstra, T., Bartsch, O., Elsea, S. H., Jabs, E. W., MacDonald, M. E., Harris, D. J., Quade, B. J., Ropers, H-H., Shaffer, L. G., Kutsche, K., Layman, L. C., Tommerup, N., Kalscheuer, V. M., Shi, Y., Morton, C. C., Kim, C-H. & Gusella, J. F., 2012, In: AM J HUM GENET. 91, 1, p. 56-72 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  117. Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

    Lorenz, S., Petersen, C., Kordaß, U., Seidel, H., Zenker, M. & Kutsche, K., 2012, In: EUR J MED GENET. 55, 11, p. 615-619 11.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  118. 2011

  119. Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.

    Kortüm, F., Chyrek, M., Fuchs, S., Albrecht, B., Gillessen-Kaesbach, G., Mütze, U., Seemanova, E., Tinschert, S., Wieczorek, D., Rosenberger, G. & Kutsche, K., 2011, In: MOL SYNDROMOL. 2, 1, p. 27-34 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  120. Phenotypic spectrum associated with CASK loss-of-function mutations.

    Moog, U., Kutsche, K., Kortüm, F., Chilian, B., Bierhals, T., Apeshiotis, N., Balg, S., Chassaing, N., Coubes, C., Das, S., Engels, H., Hilde, V. E., Grasshoff, U., Heise, M., Isidor, B., Jarvis, J., Koehler, U., Martin, T., Oehl-Jaschkowitz, B., Ortibus, E., Pilz, D. T., Prabhakar, P., Rappold, G., Rau, I., Rettenberger, G., Schlüter, G., Scott, R. H., Shoukier, M., Wohlleber, E., Zirn, B., Dobyns, W. B. & Uyanik, G., 2011, In: J MED GENET. 48, 11, p. 741-751 11.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  121. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

    Kortüm, F., Das, S., Flindt, M., Morris-Rosendahl, D. J., Stefanova, I., Goldstein, A., Horn, D., Klopocki, E., Kluger, G., Martin, P., Rauch, A., Roumer, A., Saitta, S., Walsh, L. E., Wieczorek, D., Uyanik, G., Kutsche, K. & Dobyns, W. B., 2011, In: J MED GENET. 48, 6, p. 396-406 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  122. 2010

  123. Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation

    Girisha, K. M., Lewis, L. E., Phadke, S. R. & Kutsche, K., 01.11.2010, In: AM J MED GENET A. 152A, 11, p. 2861-4 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  124. A restricted spectrum of NRAS mutations causes Noonan syndrome.

    Cirstea, I. C., Kutsche, K., Dvorsky, R., Gremer, L., Carta, C., Horn, D., Roberts, A. E., Lepri, F., Merbitz-Zahradnik, T., König, R., Kratz, C. P., Pantaleoni, F., Dentici, M. L., Joshi, V. A., Kucherlapati, R. S., Mazzanti, L., Mundlos, S., Patton, M. A., Silengo, M. C., Rossi, C., Zampino, G., Digilio, C., Stuppia, L., Seemanova, E., Pennacchio, L. A., Gelb, B. D., Dallapiccola, B., Wittinghofer, A., Ahmadian, M. R., Tartaglia, M. & Zenker, M., 2010, In: NAT GENET. 42, 1, p. 27-29 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  125. A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.

    Steichen-Gersdorf, E., Griesmaier, E., Pientka, F. K., Kotzot, D. & Kutsche, K., 2010, In: CLIN DYSMORPHOL. 19, 2, p. 82-84 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  126. Large intragenic deletions of the NF2 gene: breakpoints and associated phenotypes.

    Abo-Dalo, B., Kutsche, K., Mautner, V. F. & Kluwe, L., 2010, In: GENE CHROMOSOME CANC. 49, 2, p. 171-175 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  127. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

    Endele, S., Rosenberger, G., Geider, K., Popp, B., Tamer, C., Stefanova, I., Milh, M., Kortüm, F., Fritsch, A., Pientka, F. K., Hellenbroich, Y., Kalscheuer, V. M., Kohlhase, J., Moog, U., Rappold, G., Rauch, A., Ropers, H-H., von Spiczak, S., Tönnies, H., Villeneuve, N., Villard, L., Zabel, B., Zenker, M., Laube, B., Reis, A., Wieczorek, D., Lionel, V. M. & Kutsche, K., 2010, In: NAT GENET. 42, 11, p. 1021-1026 11.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  128. Neuro-kardio-fazio-kutane Syndrome: Überlappende Phänotypen mit gemeinsamem molekularem Signalweg interdisziplinäres Betreuungskonzept

    Mautner, V. F., Nguyen, R., Bernhardt, A., Von Kodolitsch, Y., Zenker, M. & Kutsche, K., 2010, In: MED GENET-BERLIN. 1, p. 10-19

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  129. The face of Noonan syndrome: Does phenotype predict genotype.

    Allanson, J. E., Bohring, A., Dörr, H-G., Dufke, A., Gillessen-Kaesbach, G., Horn, D., König, R., Kratz, C. P., Kutsche, K., Pauli, S., Raskin, S., Rauch, A., Turner, A., Wieczorek, D. & Zenker, M., 2010, In: AM J MED GENET A. 152, 8, p. 1960-1966 8.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  130. Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.

    Fabretto, A., Kutsche, K., Harmsen, M-B., Demarini, S., Gasparini, P., Fertz, M. C. & Zenker, M., 2010, In: EUR J MED GENET. 53, 5, p. 322-324 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  131. 2009

  132. Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.

    Gremer, L., Alessandro, D. L., Merbitz-Zahradnik, T., Dallapiccola, B., Morlot, S., Tartaglia, M., Kutsche, K., Ahmadian, M. R. & Rosenberger, G., 2009, In: HUM MOL GENET.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  133. Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

    Harmsen, M-B., Azzarello-Burri, S., González, G., Mar, M., Gillessen-Kaesbach, G., Meinecke, P., Müller, D., Rauch, A., Rossier, E., Seemanova, E., Spaich, C., Steiner, B., Wieczorek, D., Kutsche, K. & Kutsche, K., 2009, In: EUR J HUM GENET. 17, 10, p. 1207-1215 10.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  134. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

    Cordeddu, V., Elia, D. S., Pennacchio, L. A., Ma'ayan, A., Sarkozy, A., Fodale, V., Cecchetti, S., Cardinale, A., Martin, J., Schackwitz, W., Lipzen, A., Zampino, G., Mazzanti, L., Digilio, M. C., Martinelli, S., Flex, E., Lepri, F., Deborah, B., Kutsche, K., Ferrero, G. B., Anichini, C., Selicorni, A., Rossi, C., Tenconi, R., Zenker, M., Merlo, D., Dallapiccola, B., Iyengar, R., Bazzicalupo, P., Gelb, B. D. & Tartaglia, M., 2009, In: NAT GENET. 41, 9, p. 1022-1026 9.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  135. Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.

    Rosenberger, G., Meien, S. & Kutsche, K., 2009, In: HUM MUTAT. 30, 3, p. 352-362 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  136. 2008

  137. AlphaPIX Rho GTPase guanine nucleotide exchange factor regulates lymphocyte functions and antigen receptor signaling.

    Missy, K., Hu, B., Schilling, K., Harenberg, A., Sakk, V., Kuchenbecker, K., Kutsche, K. & Fischer, K-D., 2008, In: MOL CELL BIOL. 28, 11, p. 3776-3789 11.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  138. Disruption of neurexin 1 associated with autism spectrum disorder.

    Kim, H-G., Kishikawa, S., Higgins, A. W., Seong, I-S., Donovan Diana, J., Shen, Y., Lally, E., Weiss, L. A., Najm, J., Kutsche, K., Descartes, M., Holt, L., Braddock, S., Troxell, R., Kaplan, L., Volkmar, F., Klin, A., Tsatsanis, K., Harris, D. J., Noens, I., Pauls, D. L., Daly, M. J., MacDonald, M. E., Morton, C. C., Quade Bradley, J. & Gusella, J. F., 2008, In: AM J HUM GENET. 82, 1, p. 199-207 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  139. Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

    Schulz, A. L., Albrecht, B., Arici, C., van der Burgt, I., Buske, A., Gillessen-Kaesbach, G., Heller, R., Horn, D., Hübner, C., Korenke, G. C., König, R., Kress, W., Krüger, G., Meinecke, P., Mücke, J., Plecko, B., Rossier, E., Schinzel, A., Schulze, A., Seemanova, E., Seidel, H., Spranger, S., Tuysuz, B., Uhrig, S., Wieczorek, D., Kutsche, K. & Zenker, M., 2008, In: CLIN GENET. 73, 1, p. 62-70 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  140. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

    Najm, J., Horn, D., Rau, I., Golden, J. A., Chizhikov, V. V., Jyotsna, S., Christian, S. L., Ullmann, R., Kuechler, A., Haas, C. A., Flubacher, A., Charnas, L. R., Uyanik, G., Frank, U., Klopocki, E., Dobyns, W. B. & Kutsche, K., 2008, In: NAT GENET.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  141. No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome.

    Abo-Dalo, B., Roes, M., Canún, S., Delatycki, M., Gillessen-Kaesbach, G., Hrytsiuk, I., Jung, C., Kerr, B., Mowat, D., Seemanova, E., Steiner, C. E., Stewart, H., Thierry, P., van Buggenhout, G., White, S., Zenker, M. & Kutsche, K., 2008, In: CLIN DYSMORPHOL. 17, 3, p. 181-185 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  142. Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.

    Morris-Rosendahl, D. J., Najm, J., Lachmeijer, A. M. A., Sztriha, L., Martins, M., Kuechler, A., Haug, V., Zeschnigk, C., Martin, P., Santos, M., Vasconcelos, C., Omran, H., Kraus, U., Van der Knaap, M. S., Schuierer, G., Kutsche, K. & Uyanik, G., 2008, In: CLIN GENET. 74, 5, p. 425-433 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  143. 2007

  144. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

    Martínez-Garay, I., Tomás, M., Oltra, S., Ramser, J., Moltó, M. D., Prieto, F., Meindl, A., Kutsche, K. & Martínez, F., 2007, In: EUR J HUM GENET. 15, 1, p. 29-34 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  145. Candidate loci for Zimmermann-Laband syndrome at 3p14.3.

    Hyung-Goo, K., Higgins Anne, W., Herrick Steven, R., Kishikawa, S., Nicholson, L., Kutsche, K., Ligon Azra, H., Harris David, J., Macdonald Marcy, E., Bruns Gail, A. P., Morton Cynthia, C., Quade Bradley, J. & Gusella James, F., 2007, In: AM J MED GENET A. 143, 2, p. 107-111 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  146. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

    Zenker, M., Lehmann, K., Schulz, A. L., Barth, H., Hansmann, D., Koenig, R., Korinthenberg, R., Kreiss-Nachtsheim, M., Meinecke, P., Morlot, S., Mundlos, S., Quante, A. S., Raskin, S., Schnabel, D., Wehner, L-E., Kratz, C. P., Horn, D. & Kutsche, K., 2007, In: J MED GENET. 44, 2, p. 131-135 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  147. Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome.

    Abo-Dalo, B., Kim, H-G., Roes, M., Stefanova, M., Higgins, A., Shen, Y., Mundlos, S., Quade, B. J., Gusella, J. F. & Kutsche, K., 2007, In: AM J MED GENET A. 143, 22, p. 2668-2674 22.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  148. HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?

    Rau, I., Shaw, G. M. & Kutsche, K., 2007, In: MOL VIS. 13, p. 1475-1482

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  149. Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.

    Rau, I., Rauch, A., Orth, U., Schwarzer, U., Trautmann, U. & Kutsche, K., 2007, In: EUR J MED GENET. 50, 6, p. 421-431 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  150. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

    Zenker, M., Horn, D., Wieczorek, D., Allanson, J., Pauli, S., van der Burgt, I., Doerr, H-G., Gaspar, H., Hofbeck, M., Gillessen-Kaesbach, G., Koch, A., Meinecke, P., Mundlos, S., Nowka, A., Rauch, A., Reif, S., von Schnakenburg, C., Seidel, H., Wehner, L-E., Zweier, C., Bauhuber, S., Matejas, V., Kratz, C. P., Thomas, C. & Kutsche, K., 2007, In: J MED GENET. 44, 10, p. 651-656 10.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  151. 2006

  152. AlphaPIX and betaPIX and their role in focal adhesion formation

    Rosenberger, G. & Kutsche, K., 2006, In: EUR J CELL BIOL. 85, 3-4, p. 265-274 10 p., 3-4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  153. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

    Rau, I., Morleo, M., Rosenberger, G., Iaconis, D., Orth, U., Meinecke, P., Lerer, I., Ballabio, A., Gal, A., Franco, B. & Kutsche, K., 2006, In: AM J HUM GENET. 79, 5, p. 878-889 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  154. The novel centrosomal associated protein CEP55 is present in the spindle midzone and the midbody.

    Martinez-Garay, I., Rustom, A., Gerdes, H-H. & Kutsche, K., 2006, In: GENOMICS. 87, 2, p. 243-253 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  155. 2003

  156. Zimmermann-Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: molecular cytogenetic characterization of the breakpoint regions

    Stefanova, M., Atanassov, D., Krastev, T., Fuchs, S. & Kutsche, K., 15.03.2003, In: AM J MED GENET A. 117A, 3, p. 289-94 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  157. Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling

    Rosenberger, G., Jantke, I., Gal, A. & Kutsche, K., 15.01.2003, In: HUM MOL GENET. 12, 2, p. 155-67 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review