Group Van Haaften, section Genetics

2023

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

Nov 2023, In: Kidney International. 104, 5, p. 995-1007 13 p.

Research output: Contribution to journal › Article › Academic › peer-review

Environmental and parental risk factors for congenital solitary functioning kidney — a case–control study

Aug 2023, In: Pediatric Nephrology. 38, 8, p. 2631-2641 11 p.

Research output: Contribution to journal › Article › Academic › peer-review

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Macrocephaly and developmental delay caused by missense variants in RAB5C

Koop, K., Yuan, W., Tessadori, F., Rodriguez-Polanco, W. R., Grubbs, J., Zhang, B., Osmond, M., Graham, G., Sawyer, S., Conboy, E., Vetrini, F., Treat, K., Płoski, R., Pienkowski, V. M., Kłosowska, A., Fieg, E., Krier, J., Mallebranche, C., Alban, Z., Aldinger, K. A., & 29 othersRitter, D., Macnamara, E., Sullivan, B., Herriges, J., Alaimo, J. T., Helbig, C., Ellis, C. A., Eyk, C., Gecz, J., Farrugia, D., Osei-Owusu, I., Adès, L., Boogaard, M-J., Fuchs, S., Bakker, J., Duran, K., Dawson, Z. D., Lindsey, A., Huang, H., Baldridge, D., Silverman, G. A., Grant, B. D., Raizen, D., Network, U. D., Haaften, G., Pak, S. C., Rehmann, H., Schedl, T. & van Hasselt, P., 1 Nov 2023, In: Human molecular genetics. 32, 21, p. 3063-3077 15 p., 37552066.

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Uncovering risk factors for kidney injury in children with a solitary functioning kidney

Jan 2023, In: Kidney International. 103, 1, p. 156-165 10 p.

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2022

A Genome-Wide Association Study into the Aetiology of Congenital Solitary Functioning Kidney

Radboud University Nijmegen, Dec 2022, In: Biomedicines. 10, 12, p. 1-17 3023.

Research output: Contribution to journal › Article › Academic › peer-review

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Biallelic TMEM72 variants in patients with nephronophthisis-like phenotype

Snoek, R., Claus, L. R., Peters, E. D. J., Savelberg, S. M. C., Duran, K., van der Veen, S. W., Brummelhuis, W. J., Rookmaaker, M., van der Zwaag, B., Nguyen, T. Q., Broekhuizen, R., Mesnard, L., Karras, A., Sadeghi-Alavijeh, O., Gale, D. P., Elferink, M., Oud, M. M., Faber, S., Roepman, R., Hildebrandt, F., & 5 othersKlambt, V., Knoers, N. V. A. M., Tessadori, F., van Haaften, G. W. & van Eerde, A. M., Apr 2022, In: European Journal of Human Genetics. 30, SUPPL 1, p. 78-78

Research output: Contribution to journal › Meeting Abstract › Academic

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

21 Jan 2022, In: Circulation research. 130, 2, p. 166-180 15 p.

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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

7 Apr 2022, In: American Journal of Human Genetics. 109, 4, p. 750-758 9 p.

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Recurrent respiratory syncytial virus infection in a CD14 deficient patient

Besteman, S. B., Phung, E., Raeven, H. H. M., Amatngalim, G. D., Rumpret, M., Crabtree, J., Schepp, R. M., Rodenburg, L. W., Siemonsma, S. G., Verleur, N., van Slooten, R., Duran, K., van Haaften, G., Beekman, J. M., Chang, L. A., Meyaard, L., van der Bruggen, T., Berbers, G. A. M., Derksen, N., Nierkens, S., & 6 othersMorabito, K. M., Ruckwardt, T. J., Kurt-Jones, E. A., Golenbock, D., Graham, B. S. & Bont, L. J., 15 Jul 2022, In: The Journal of infectious diseases. 226, 2, p. 258-269 12 p.

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The zebrafish cohesin protein Sgo1 is required for cardiac function and eye development

Kamel, S. M., Broekman, S., Tessadori, F., van Wijk, E. & Bakkers, J., Aug 2022, In: Developmental Dynamics. 251, 8, p. 1357-1367 11 p.

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2021

[18F]FDG and [18F]FES positron emission tomography for disease monitoring and assessment of anti-hormonal treatment eligibility in granulosa cell tumors of the ovary

Roze, J. F., van Meurs, H. S., Monroe, G. R., Veldhuis, W. B., van Lonkhuijzen, L. R. C. W., Bennink, R. J., Groeneweg, J. W., Witteveen, P. O., Jonges, G. N., Zweemer, R. P. & Braat, A. J. A. T., 30 Mar 2021, In: Oncotarget. 12, 7, p. 665-673 9 p.

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CDH12 as a Candidate Gene for Kidney Injury in Posterior Urethral Valve Cases: A Genome-wide Association Study Among Patients with Obstructive Uropathies

van der Zanden, L. F. M., van Rooij, I. A. L. M., Quaedackers, J. S. L. T., Nijman, R. J. M., Steffens, M., de Wall, L. L. L., Bongers, E. M. H. F., Schaefer, F., Kirchner, M., Behnisch, R., Bayazit, A. K., Caliskan, S., Obrycki, L., Montini, G., Duzova, A., Wuttke, M., Jennings, R., Hanley, N. A., Milmoe, N. J., Winyard, P. J. D., & 4 othersRenkema, K. Y., Schreuder, M. F., Roeleveld, N. & Feitz, W. F. J., Jun 2021, In: European Urology Open Science. 28, p. 26-35 10 p.

Research output: Contribution to journal › Article › Academic › peer-review

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Drug Repurposing for Rare Diseases

Roessler, H. I., Knoers, N. V. A. M., van Haelst, M. M. & van Haaften, G., Apr 2021, In: Trends in Pharmacological Sciences. 42, 4, p. 255-267 13 p.

Research output: Contribution to journal › Review article › peer-review

10 Citations (Scopus)

Familial Occurrence of Adult Granulosa Cell Tumors: Analysis of Whole-Genome Germline Variants

Roze, J. F., Kutzera, J., Koole, W., Ausems, M. G. E. M., Engelstad, K., Piek, J. M. J., de Kroon, C. D., Verheijen, R. H. M., van Haaften, G., Zweemer, R. P. & Monroe, G. R., 2 May 2021, In: Cancers. 13, 10, 13 p., 2430.

Research output: Contribution to journal › Article › Academic › peer-review

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FOXL2 and TERT promoter mutation detection in circulating tumor DNA of adult granulosa cell tumors as biomarker for disease monitoring

Groeneweg, J. W., Roze, J. F., Peters, E. D. J., Sereno, F., Brink, A. G. J., Paijens, S. T., Nijman, H. W., van Meurs, H. S., van Lonkhuijzen, L. R. C. W., Piek, J. M. J., Lok, C. A. R., Monroe, G. R., van Haaften, G. W. & Zweemer, R. P., Aug 2021, In: Gynecologic Oncology. 162, 2, p. 413-420 8 p.

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In Vitro Systematic Drug Testing Reveals Carboplatin, Paclitaxel, and Alpelisib as a Potential Novel Combination Treatment for Adult Granulosa Cell Tumors

Roze, J., Sendino Garví, E., Stelloo, E., Stangl, C., Sereno, F., Duran, K., Groeneweg, J., Paijens, S., Nijman, H., van Meurs, H., van Lonkhuijzen, L., Piek, J., Lok, C., Jonges, G., Witteveen, P., Verheijen, R., van Haaften, G., Zweemer, R. & Monroe, G., 1 Feb 2021, In: Cancers. 13, 3, p. 1-18 18 p., 368.

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mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy

Schlingmann, K. P., Jouret, F., Shen, K., Nigam, A., Arjona, F. J., Dafinger, C., Houillier, P., Jones, D. P., Kleinerüschkamp, F., Oh, J., Godefroid, N., Eltan, M., Güran, T., Burtey, S., Parotte, M-C., König, J., Braun, A., Bos, C., Ibars Serra, M., Rehmann, H., & 16 othersZwartkruis, F. J. T., Renkema, K. Y., Klingel, K., Schulze-Bahr, E., Schermer, B., Bergmann, C., Altmüller, J., Thiele, H., Beck, B. B., Dahan, K., Sabatini, D., Liebau, M. C., Vargas-Poussou, R., Knoers, N. V. A. M., Konrad, M. & de Baaij, J. H. F., Nov 2021, In: Journal of the American Society of Nephrology. 32, 11, p. 2885-2899 15 p.

Research output: Contribution to journal › Article › Academic › peer-review

MULTICYSTIC DYSPLASTIC KIDNEY: WHOLE GENOME SEQUENCING DATA ANALYSIS IN 30 CASE-PARENT TRIOS

Kerstholt, M., Woud, S. G. I. T., Claus, L. R., Mulder, F., Nijman, I. J., Franke, L. H., Schreuder, M. F., Feitz, W. F. J., Van Haaften, G., Van der Zanden, L. F. M., Van Eerde, A. M., Lilien, M. R. & Renkema, K. Y., Oct 2021, In: Pediatric Nephrology. 36, 10, p. 3405-3405

Research output: Contribution to journal › Meeting Abstract › Academic

2020

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

Tessadori, F., Rehman, A. U., Giltay, J. C., Xia, F., Streff, H., Duran, K., Bakkers, J., Lalani, S. R. & van Haaften, G., May 2020, In: European Journal of Human Genetics. 28, 5, p. 674-678 5 p.

Research output: Contribution to journal › Article › Academic › peer-review

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Notch and Bmp signaling pathways act coordinately during the formation of the proepicardium

Andrés-Delgado, L., Galardi-Castilla, M., Münch, J., Peralta, M., Ernst, A., González-Rosa, J. M., Tessadori, F., Santamaría, L., Bakkers, J., Vermot, J., de la Pompa, J. L. & Mercader, N., Dec 2020, In: Developmental Dynamics. 249, 12, p. 1455-1469 15 p.

Research output: Contribution to journal › Article › Academic › peer-review

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Pregnancy in Advanced Kidney Disease: Clinical Practice Considerations on a Challenging Combination

Snoek, R., van der Graaf, R., Meinderts, J. R., van Reekum, F., Bloemenkamp, K. W. M., Knoers, N. V. A. M., van Eerde, A. M. & Lely, A. T., 1 Apr 2020, In: Nephron. 144, 4, p. 185-189 5 p.

Research output: Contribution to journal › Article › Academic › peer-review

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Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations

Ciapaite, J., Albersen, M., Savelberg, S. M. C., Bosma, M., Tessadori, F., Gerrits, J., Lansu, N., Zwakenberg, S., Bakkers, J. P. W., Zwartkruis, F. J. T., van Haaften, G., Jans, J. J. & Verhoeven-Duif, N. M., 1 Mar 2020, In: Biochimica et Biophysica Acta. Molecular Basis of Disease. 1866, 3, 11 p., 165607.

Research output: Contribution to journal › Article › Academic › peer-review

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Zebrafish prrx1a mutants have normal hearts

Tessadori, F., de Bakker, D. E. M., Barske, L., Nelson, N., Algra, H. A., Willekers, S., Nichols, J. T., Crump, J. G. & Bakkers, J., 24 Sept 2020, In: Nature. 585, 7826, p. E14-E16

Research output: Contribution to journal › Editorial › Academic › peer-review

1 Citation (Scopus)

2019

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9

Smeland, M. F., McClenaghan, C., Roessler, H. I., Savelberg, S., Hansen, G. Å. M., Hjellnes, H., Arntzen, K. A., Müller, K. I., Dybesland, A. R., Harter, T., Sala-Rabanal, M., Emfinger, C. H., Huang, Y., Singareddy, S. S., Gunn, J., Wozniak, D. F., Kovacs, A., Massink, M., Tessadori, F., Kamel, S. M., & 5 othersBakkers, J., Remedi, M. S., Van Ghelue, M., Nichols, C. G. & van Haaften, G., 1 Oct 2019, In: Nature Communications. 10, 1, 4457.

Research output: Contribution to journal › Article › Academic › peer-review

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Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

Grange, D. K., Roessler, H. I., McClenaghan, C., Duran, K., Shields, K., Remedi, M. S., Knoers, N. V. A. M., Lee, J. M., Kirk, E. P., Scurr, I., Smithson, S. F., Singh, G. K., van Haelst, M. M., Nichols, C. G. & van Haaften, G., 1 Dec 2019, In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 181, 4, p. 658-681 24 p.

Research output: Contribution to journal › Article › Academic › peer-review

1 Citation (Scopus)

EML1-associated brain overgrowth syndrome with ribbon-like heterotopia

Oegema, R., McGillivray, G., Leventer, R., Le Moing, A-G., Bahi-Buisson, N., Barnicoat, A., Mandelstam, S., Francis, D., Francis, F., Mancini, G. M. S., Savelberg, S., van Haaften, G., Mankad, K. & Lequin, M. H., Dec 2019, In: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 181, 4, p. 627-637 11 p.

Research output: Contribution to journal › Review article › peer-review

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Glibenclamide and HMR1098 normalize Cantú syndrome-associated gain-of-function currents

Houtman, M. J. C., Chen, X., Qile, M., Duran, K., van Haaften, G., Stary-Weinzinger, A. & van der Heyden, M. A. G., 1 Aug 2019, In: Journal of Cellular and Molecular Medicine. 23, 8, p. 4962-4969 8 p.

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GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay

Rumping, L., Tessadori, F., Pouwels, P. J. W., Vringer, E., Wijnen, J. P., Bhogal, A. A., Savelberg, S. M. C., Duran, K. J., Bakkers, M. J. G., Ramos, R. J. J., Schellekens, P. A. W., Kroes, H. Y., Klomp, D. W. J., Black, G. C. M., Taylor, R. L., Bakkers, J. P. W., Prinsen, H. C. M. T., van der Knaap, M. S., Dansen, T. B., Rehmann, H., & 6 othersZwartkruis, F. J. T., Houwen, R. H. J., van Haaften, G., Verhoeven-Duif, N. M., Jans, J. J. M. & van Hasselt, P. M., 1 Jan 2019, In: Human Molecular Genetics. 28, 1, p. 96-104 9 p.

Research output: Contribution to journal › Article › Academic › peer-review

12 Citations (Scopus)

Identification and Characterization of a Transcribed Distal Enhancer Involved in Cardiac Kcnh2 Regulation

van den Boogaard, M., van Weerd, J. H., Bawazeer, A. C., Hooijkaas, I. B., van de Werken, H. J. G., Tessadori, F., de Laat, W., Barnett, P., Bakkers, J. & Christoffels, V. M., 3 Sept 2019, In: Cell Reports. 28, 10, p. 2704-2714.e5

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Identification of human D lactate dehydrogenase deficiency

Monroe, G. R., van Eerde, A. M., Tessadori, F., Duran, K. J., Savelberg, S. M. C., van Alfen, J. C., Terhal, P. A., van der Crabben, S. N., Lichtenbelt, K. D., Fuchs, S. A., Gerrits, J., van Roosmalen, M. J., van Gassen, K. L., van Aalderen, M., Koot, B. G., Oostendorp, M., Duran, M., Visser, G., de Koning, T. J., Calì, F., & 8 othersBosco, P., Geleijns, K., de Sain-van der Velden, M. G. M., Knoers, N. V., Bakkers, J., Verhoeven-Duif, N. M., van Haaften, G. & Jans, J. J., 1 Apr 2019, In: Nature Communications. 10, 1, 1477.

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Single-cell analysis uncovers that metabolic reprogramming by ErbB2 signaling is essential for cardiomyocyte proliferation in the regenerating heart

Honkoop, H., de Bakker, D. E., Aharonov, A., Kruse, F., Shakked, A., Nguyen, P. D., de Heus, C., Garric, L., Muraro, M. J., Shoffner, A., Tessadori, F., Peterson, J. C., Noort, W., Bertozzi, A., Weidinger, G., Posthuma, G., Grun, D., van der Laarse, W. J., Klumperman, J., Jaspers, R. T., & 4 othersPoss, K. D., van Oudenaarden, A., Tzahor, E. & Bakkers, J., 23 Dec 2019, In: eLife. 8, e50163.

Research output: Contribution to journal › Article › Academic › peer-review

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2018

Accuracy of diagnosis and counseling of fetal brain anomalies prior to 24 weeks of gestational age

Snoek, R., Albers, M. E. W. A., Mulder, E. J. H., Lichtenbelt, K. D., de Vries, L. S., Nikkels, P. G. J., Cuppen, I., Pistorius, L. R., Manten, G. T. R. & de Heus, R., 18 Aug 2018, In: Journal of Maternal-fetal & Neonatal Medicine. 31, 16, p. 2188-2194 7 p.

Research output: Contribution to journal › Article › Academic › peer-review

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Assessing Nephron Hyperplasia in Fetal Congenital Solitary Functioning Kidneys by Measuring Renal Papilla Number

Snoek, R., de Heus, R., de Mooij, K. J., Pistorius, L. R., Lilien, M. R., Lely, A. T., Bekker, M. N. & de Jong, T. P. V. M., 1 Sept 2018, In: American Journal of Kidney Diseases. 72, 3, p. 465-467 3 p.

Research output: Contribution to journal › Letter › Academic › peer-review

Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients

Roessler, H. I., Volker-Touw, C. M. L., Terhal, P. A., van Haaften, G. & van Haelst, M. M., Jul 2018, In: Clinical dysmorphology. 27, 3, p. 78-83 6 p.

Research output: Contribution to journal › Article › Academic › peer-review

Cantu syndrome-Associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-offunction by differential mechanisms

McClenaghan, C., Hanson, A., Sala-Rabanal, M., Roessler, H. I., Josifova, D., Grange, D. K., Van Haaften, G. & Nichols, C. G., 1 Jan 2018, In: Journal of Biological Chemistry. 293, 6, p. 2041-2052 12 p.

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Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

Tessadori, F., Roessler, H. I., Savelberg, S. M. C., Chocron, S., Kamel, S. M., Duran, K. J., Van Haelst, M. M., Van Haaften, G. & Bakkers, J., 1 Oct 2018, In: DMM Disease Models and Mechanisms. 11, 10, dmm035469.

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1 Citation (Scopus)

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency

van Rijn, J. M., Ardy, R. C., Kuloğlu, Z., Härter, B., van Haaften-Visser, D. Y., van der Doef, H. P. J., van Hoesel, M., Kansu, A., van Vugt, A. H. M., Thian, M., Kokke, F. T. M., Krolo, A., Başaran, M. K., Kaya, N. G., Aksu, A. Ü., Dalgıç, B., Ozcay, F., Baris, Z., Kain, R., Stigter, E. C. A., & 18 othersLichtenbelt, K. D., Massink, M. P. G., Duran, K. J., Verheij, J. B. G. M., Lugtenberg, D., Nikkels, P. G. J., Brouwer, H. G. F., Verkade, H. J., Scheenstra, R., Spee, B., Nieuwenhuis, E. E. S., Coffer, P. J., Janecke, A. R., van Haaften, G., Houwen, R. H. J., Müller, T., Middendorp, S. & Boztug, K., 1 Jul 2018, In: Gastroenterology. 155, 1, p. 130-143.e15

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NPHP1 (Nephrocystin-1) gene deletions cause adult-onset ESRD

Snoek, R., Van Setten, J., Keating, B. J., Israni, A. K., Jacobson, P. A., Oetting, W. S., Matas, A. J., Mannon, R. B., Zhang, Z., Zhang, W., Hao, K., Murphy, B., Reindl-Schwaighofer, R., Heinzl, A., Oberbauer, R., Viklicky, O., Conlon, P. J., Stapleton, C. P., Bakker, S. J. L., Snieder, H., & 5 othersPeters, E. D. J., Van Der Zwaag, B., Knoers, N. V. A. M., De Borst, M. H. & Van Eerde, A. M., 1 Jun 2018, In: Journal of the American Society of Nephrology. 29, 6, p. 1772-1779 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

4 Citations (Scopus)

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Kievit, A., Tessadori, F., Douben, H., Jordens, I., Maurice, M., Hoogeboom, J., Hennekam, R., Nampoothiri, S., Kayserili, H., Castori, M., Whiteford, M., Motter, C., Melver, C., Cunningham, M., Hing, A., Kokitsu-Nakata, N. M., Vendramini-Pittoli, S., Richieri-Costa, A., Baas, A. F., Breugem, C. C., & 17 othersDuran, K., Massink, M., Derksen, P. W. B., van IJcken, W. F. J., van Unen, L., Santos-Simarro, F., Lapunzina, P., Gil-da Silva Lopes, V. L., Lustosa-Mendes, E., Krall, M., Slavotinek, A., Martinez-Glez, V., Bakkers, J., van Gassen, K. L. I., de Klein, A., van den Boogaard, M-J. H. & van Haaften, G., Feb 2018, In: European Journal of Human Genetics. 26, 2, p. 210-219 10 p.

Research output: Contribution to journal › Article › Academic › peer-review

2017

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Depienne, C., Nava, C., Keren, B., Heide, S., Rastetter, A., Passemard, S., Chantot-Bastaraud, S., Moutard, M-L., Agrawal, P. B., VanNoy, G., Stoler, J. M., Amor, D. J., Billette de Villemeur, T., Doummar, D., Alby, C., Cormier-Daire, V., Garel, C., Marzin, P., Scheidecker, S., de Saint-Martin, A., & 30 othersHirsch, E., Korff, C., Bottani, A., Faivre, L., Verloes, A., Orzechowski, C., Burglen, L., Leheup, B., Roume, J., Andrieux, J., Sheth, F., Datar, C., Parker, M. J., Pasquier, L., Odent, S., Naudion, S., Delrue, M-A., Le Caignec, C., Vincent, M., Isidor, B., Renaldo, F., Stewart, F., Toutain, A., Koehler, U., Verbeek, N. E., van Haelst, M. M., de Kovel, C., Koeleman, B., Monroe, G. & van Haaften, G., Apr 2017, In: Human Genetics. 136, 4, p. 463-479 17 p.

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Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control

Tessadori, F., Giltay, J. C., Hurst, J. A., Massink, M. P., Duran, K., Vos, H. R., van Es, R. M., Scott, R. H., Van Gassen, K. L. I., Bakkers, J. & Van Haaften, G., 1 Nov 2017, In: Nature Genetics. 49, 11, p. 1642-1646 5 p.

Research output: Contribution to journal › Article › Academic › peer-review

PA-6 inhibits inward rectifier currents carried by V93I and D172N gain-of-function K_IR2.1 channels, but increases channel protein expression

Ji, Y., Veldhuis, M. G., Zandvoort, J., Romunde, F. L., Houtman, M. J. C., Duran, K., Van Haaften, G., Zangerl-Plessl, E. M., Takanari, H., Stary-Weinzinger, A. & Van Der Heyden, M. A. G., 15 Jul 2017, In: Journal of Biomedical Science. 24, 1, 44.

Research output: Contribution to journal › Article › Academic › peer-review

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Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

Lipstein, N., Verhoeven-Duif, N. M., Michelassi, F. E., Calloway, N., Van Hasselt, P. M., Pienkowska, K., Van Haaften, G., Van Haelst, M. M., van Empelen, R., Cuppen, I., Van Teeseling, H. C., Evelein, A. M. V., Vorstman, J. A., Thoms, S., Jahn, O., Duran, KJ., Monroe, G. R., Ryan, T. A., Taschenberger, H., Dittman, J. S., & 4 othersRhee, J. S., Visser, G., Jans, J. J. & Brose, N., 1 Mar 2017, In: Journal of Clinical Investigation. 127, 3, p. 1005-1018 14 p.

Research output: Contribution to journal › Article › Academic › peer-review

2016

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)

Monroe, G. R., Kappen, I. F., Stokman, M. F., Terhal, P. A., van den Boogaard, M-J. H., Savelberg, S. M., van der Veken, L. T., van Es, R. J. J., Lens, S. M., Hengeveld, R. C., Creton, M. A., Janssen, N. G., Mink van der Molen, A. B., Ebbeling, M. B., Giles, R. H., Knoers, N. V. & van Haaften, G., 17 Aug 2016, In: European Journal of Human Genetics. 24, p. 1752–1760

Research output: Contribution to journal › Article › Academic › peer-review

Correction: GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

Lodder, E. M., De Nittis, P., Koopman, C. D., Wiszniewski, W., Moura de Souza, C. F., Lahrouchi, N., Guex, N., Napolioni, V., Tessadori, F., Beekman, L., Nannenberg, E. A., Boualla, L., Blom, N. A., de Graaff, W., Kamermans, M., Cocciadiferro, D., Malerba, N., Mandriani, B., Coban Akdemir, Z. H., Fish, R. J., & 13 othersEldomery, M. K., Ratbi, I., Wilde, A. A. M., de Boer, T., Simonds, W. F., Neerman-Arbez, M., Sutton, V. R., Kok, F., Lupski, J. R., Reymond, A., Bezzina, C. R., Bakkers, J. & Merla, G., 1 Sept 2016, In: American Journal of Human Genetics. 99, 3, p. 786

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

Weiss, K., Terhal, P. A., Cohen, L., Bruccoleri, M., Irving, M., Martinez, A. F., Rosenfeld, J. A., Machol, K., Yang, Y., Liu, P., Walkiewicz, M., Beuten, J., Gomez-Ospina, N., Haude, K., Fong, C-T., Enns, G. M., Bernstein, J. A., Fan, J., Gotway, G., Ghorbani, M., & 7 othersvan Gassen, K., Monroe, G. R., van Haaften, G., Basel-Vanagaite, L., Yang, X-J., Campeau, P. M. & Muenke, M., 6 Oct 2016, In: American Journal of Human Genetics. 99, 4, p. 934-941

Research output: Contribution to journal › Article › Academic › peer-review

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

van der Crabben, S. N., Hennus, M. P., McGregor, G. A., Ritter, D. I., Nagamani, S. C. S., Wells, O. S., Harakalova, M., Chinn, I. K., Alt, A., Vondrova, L., Hochstenbach, R., van Montfrans, J. M., Terheggen-Lagro, S. W., van Lieshout, S., van Roosmalen, M. J., Renkens, I., Duran, K., Nijman, I. J., Kloosterman, W. P., Hennekam, E., & 10 othersOrange, J. S., van Hasselt, P. M., Wheeler, D. A., Palecek, J. J., Lehmann, A. R., Oliver, A. W., Pearl, L. H., Plon, S. E., Murray, J. M. & van Haaften, G., Aug 2016, In: Journal of Clinical Investigation. 126, 8, p. 2881-2892

Research output: Contribution to journal › Article › Academic › peer-review

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Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Monroe, G. R., Frederix, G. W., Savelberg, S. M. C., De Vries, T. I., Duran, K. J., Van Der Smagt, J. J., Terhal, P. A., Van Hasselt, P. M., Kroes, H. Y., Verhoeven-Duif, N. M., Nijman, I. J., Carbo, E. C., Van Gassen, K. L., Knoers, N. V., Hövels, A. M., Van Haelst, M. M., Visser, G. & Van Haaften, G., 1 Sept 2016, In: Genetics in Medicine. 18, 9, p. 949-956 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

Lodder, E. M., De Nittis, P., Koopman, C. D., Wiszniewski, W., Moura de Souza, C. F., Lahrouchi, N., Guex, N., Napolioni, V., Tessadori, F., Beekman, L., Nannenberg, E. A., Boualla, L., Blom, N. A., de Graaff, W., Kamermans, M., Cocciadiferro, D., Malerba, N., Mandriani, B., Akdemir, Z. H. C., Fish, R. J., & 13 othersEldomery, M. K., Ratbi, I., Wilde, A. A. M., de Boer, T., Simonds, W. F., Neerman-Arbez, M., Sutton, V. R., Kok, F., Lupski, J. R., Reymond, A., Bezzina, C. R., Bakkers, J. & Merla, G., Sept 2016, In: American Journal of Human Genetics. 99, 3, p. 704–710

Research output: Contribution to journal › Article › Academic › peer-review

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

Josifova, D. J., Monroe, G. R., Tessadori, F., de Graaff, E., van der Zwaag, B., Mehta, S. G., Harakalova, M., Duran, K. J., Savelberg, S. M. C., Nijman, I. J., Jungbluth, H., Hoogenraad, C. C., Bakkers, J., Knoers, N. V., Firth, H. V., Beales, P. L., van Haaften, G. & van Haelst, M. M., Mar 2016, In: Human Molecular Genetics. 25, 11, p. 2158-2167

Research output: Contribution to journal › Article › Academic › peer-review

Group Van Haaften, section Genetics

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