Research ExplorerScientific StaffKerstin Kutsche Publications

Prof. Dr. ID: 40416

Kerstin Kutsche

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Publications

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

  25. 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

  26. 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

  27. 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

  28. 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

  29. 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

  30. 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

  31. 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

  32. 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

  33. 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

  34. 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

  35. 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

  36. 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

  37. 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

  38. 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

  39. 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

  40. 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

  41. 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

  42. 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

  43. 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

  44. 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

  45. 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

  46. 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

  47. 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

  48. 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

  49. 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

  50. 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

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