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51

Central 22q11.2 deletions

Rump, Patrick, de Leeuw, Nicole, van Essen, Anthonie J., Verschuuren-Bemelmans, Corien C., Veenstra-Knol, Hermine E., Swinkels, Mariëlle E.M., Oostdijk, Wilma, Ruivenkamp, Claudia, Reardon, Willie, de

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 2.22 MB

english, 2014

52

Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

Weiss, Marjan M., Van der Zwaag, Bert, Jongbloed, Jan D. H., Vogel, Maartje J., Brüggenwirth, Hennie T., Lekanne Deprez, Ronald H., Mook, Olaf, Ruivenkamp, Claudia A. L., van Slegtenhorst, Marjon A.,

Journal:

Year:

2013

Language:

english

File:

PDF, 342 KB

english, 2013

53

Pseudoisodicentric Xp Chromosome [46,X,psu idic(X)(q21.1)] and Its Effect on Growth and Pubertal Development

van der Kamp, H.J., Kant, S.G., Ruivenkamp, C.A.L., Gijsbers, A.C.J., Haring, D., Oostdijk, W.

Journal:

Hormone Research in Paediatrics

Year:

2014

Language:

english

File:

PDF, 537 KB

english, 2014

54

Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus

Santen, G. W. E., Sun, Y., Gijsbers, A. C. J., Carre, A., Holvoet, M., Haeringen, A. v., Lesnik Oberstein, S. A. J., Tomoda, A., Mabe, H., Polak, M., Devriendt, K., Ruivenkamp, C. A. L., Bijlsma, E. K

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 384 KB

english, 2012

55

Interpretation of Array Comparative Genome Hybridization Data: A Major Challenge

Gijsbers, A.C.J., Schoumans, J., Ruivenkamp, C.A.L.

Journal:

Cytogenetic and Genome Research

Year:

2011

Language:

english

File:

PDF, 189 KB

english, 2011

56

Prognostic parameters in uveal melanoma and their association with BAP1 expression

van Essen, T. H., van Pelt, S. I., Versluis, M., Bronkhorst, I. H., van Duinen, S. G., Marinkovic, M., Kroes, W. G., Ruivenkamp, C. A., Shukla, S., de Klein, A., Kilic, E., Harbour, J. W., Luyten, G.

Journal:

British Journal of Ophthalmology

Year:

2014

Language:

english

File:

PDF, 937 KB

english, 2014

57

Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy

Losekoot, M., Ruivenkamp, C. A. L., Tholens, A. P., Grimbergen, J. E. M. A., Vijfhuizen, L., Vermeer, S., Dijkman, H. B., Cornelissen, E. A. M., Bongers, E. M. H. F., Peters, D. J. M.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 553 KB

english, 2012

58

Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?

Sun, Yu, Ruivenkamp, Claudia A.L., Hoffer, Mariëtte J.V., Vrijenhoek, Terry, Kriek, Marjolein, van Asperen, Christi J., den Dunnen, Johan T., Santen, Gijs W.E.

Journal:

Year:

2015

Language:

english

File:

PDF, 891 KB

english, 2015

59

A Subtle Familial Translocation t(3;21)(p26.3;q22.3): An Apparently Healthy Boy with a 3p Deletion and 21q Duplication

Gijsbers, A.C.J., van Haeringen, A., Bosch, C.A.J., Hansson, K., Verschuren, M., Bakker, E., Breuning, M.H., Ruivenkamp, C.A.L.

Journal:

Cytogenetic and Genome Research

Year:

2010

Language:

english

File:

PDF, 320 KB

english, 2010

60

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

Knijnenburg, J, Oberstein, S A J L., Frei, K, Lucas, T, Gijsbers, A C J, Ruivenkamp, C A L, Tanke, H J, Szuhai, K

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 705 KB

english, 2009

61

Genome-Wide SNP Array Analysis in Patients with Features of Sotos Syndrome

Visser, Remco, Gijsbers, Antoinet, Ruivenkamp, Claudia, Karperien, Marcel, Reeser, H. Maarten, Breuning, Martijn H., Kant, Sarina G., Wit, Jan M.

Journal:

Hormone Research in Paediatrics

Year:

2010

Language:

english

File:

PDF, 643 KB

english, 2010

62

Short Stature Associated with a Novel Heterozygous Mutation in the Insulin-Like Growth Factor 1 Gene

van Duyvenvoorde, H. A., van Setten, P. A., Walenkamp, M. J. E., van Doorn, J., Koenig, J., Gauguin, L., Oostdijk, W., Ruivenkamp, C. A. L., Losekoot, M., Wade, J. D., De Meyts, P., Karperien, M., Noo

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 85 KB

english, 2010

63

A mosaic de novo duplication of 17q21-25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF- B activation

Mul, D., Wu, S., de Paus, R. A., Oostdijk, W., Lankester, A. C., Duyvenvoorde, H. A. v., Ruivenkamp, C. A. L., Losekoot, M., Tol, M. J. D. v., De Luca, F., van de Vosse, E., Wit, J. M.

Journal:

European Journal of Endocrinology

Year:

2012

Language:

english

File:

PDF, 252 KB

english, 2012

64

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting

Goobie, S., Knijnenburg, J., FitzPatrick, D., Sharkey, F.H., Lionel, A.C., Marshall, C.R., Azam, T., Shago, M., Chong, K., Mendoza-Londono, R., den Hollander, N.S., Ruivenkamp, C., Maher, E., Tanke, H

Journal:

Cytogenetic and Genome Research

Year:

2008

Language:

english

File:

PDF, 605 KB

english, 2008

65

Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia

Nielsen, M., Vermont, C. L., Aten, E., Ruivenkamp, C. A. L., van Herrewegen, F., Santen, G. W. E., Breuning, M. H.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 94 KB

english, 2012

66

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Hannes, F D, Sharp, A J, Mefford, H C, de Ravel, T, Ruivenkamp, C A, Breuning, M H, Fryns, J-P, Devriendt, K, Van Buggenhout, G, Vogels, A, Stewart, H, Hennekam, R C, Cooper, G M, Regan, R, Knight, S

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 1.23 MB

english, 2009

67

Two Short Children Born Small for Gestational Age with Insulin-Like Growth Factor 1 Receptor Haploinsufficiency Illustrate the Heterogeneity of Its Phenotype

Ester, Wietske A., van Duyvenvoorde, Hermine A., de Wit, Caroline C., Broekman, Alexander J., Ruivenkamp, Claudia A. L., Govaerts, Lutgarde C. P., Wit, Jan M., Hokken-Koelega, Anita C. S., Losekoot, M

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2009

Language:

english

File:

PDF, 408 KB

english, 2009

68

Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome

Lemmers, Richard J. L. F., van den Boogaard, Marlinde L., van der Vliet, Patrick J., Donlin-Smith, Colleen M., Nations, Sharon P., Ruivenkamp, Claudia A. L., Heard, Patricia, Bakker, Bert, Tapscott, S

Journal:

Year:

2015

File:

PDF, 468 KB

2015

69

Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome

Lemmers, Richard J. L. F., van den Boogaard, Marlinde L., van der Vliet, Patrick J., Donlin-Smith, Colleen M., Nations, Sharon P., Ruivenkamp, Claudia A. L., Heard, Patricia, Bakker, Bert, Tapscott, S

Journal:

Year:

2015

Language:

english

File:

PDF, 468 KB

english, 2015

70

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Wit, J. M., Oostdijk, W., Losekoot, M., van Duyvenvoorde, H. A., Ruivenkamp, C. A. l., Kant, S. G.

Journal:

European Journal of Endocrinology

Year:

2015

Language:

english

File:

PDF, 2.77 MB

english, 2015

71

Self‐construal and values expressed in advertising

van Baaren, Rick B., Ruivenkamp, Martin

Journal:

Social Influence

Year:

2007

Language:

english

File:

PDF, 352 KB

english, 2007

72

Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13

Tan, Ratna N. G. B., Witlox, Ruben S. G. M., Hilhorst-Hofstee, Yvonne, Peeters-Scholte, Cacha M. P. C. D., den Hollander, Nicolette S., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J.V., Hansson, Kerst

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.00 MB

english, 2015

73

Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients

Fransen van de Putte, D. E., Frankhuizen, W. S., Vijfhuizen, L., Groenewegen, L., Tamminga, R. Y. J., Bouman, K., van Essen, A. J., Gijsbers, A. C. J., Ruivenkamp, C. A. L., Boon, E. M. J.

Journal:

Year:

2015

Language:

english

File:

PDF, 346 KB

english, 2015

74

Parent-of-origin tumorigenesis is mediated by an essential imprinted modifier in SDHD -linked paragangliomas: SLC22A18 and CDKN1C are candidate tumor modifiers

Hoekstra, Attje S, Addie, Ruben D, Ras, Cor, Seifar, Reza M, Ruivenkamp, Claudia A, Briaire-de Bruijn, Inge H, Hes, Frederik J, Jansen, Jeroen C, Corssmit, Eleonora PM, Corver, Willem E, Morreau, Hans

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 1.36 MB

english, 2016

75

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1 -related ciliopathies

Khan, Saadullah, Ullah, Imran, Nasir, Abdul, Meijer, C. Arnoud, Laurense-Bik, Marlies, den Dunnen, Johan T., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Santen, Gijs W. E., Ahmad, Wasim

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 414 KB

english, 2016

76

Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset -thalassemia major

Harteveld, C. L., Refaldi, C., Giambona, A., Ruivenkamp, C. A. L., Hoffer, M. J. V., Pijpe, J., De Knijff, P., Borgna-Pignatti, C., Maggio, A., Cappellini, M. D., Giordano, P. C.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.07 MB

english, 2013

77

Promise and Ontological Ambiguity in the In vitro Meat Imagescape: From Laboratory Myotubes to the Cultured Burger

Stephens, Neil, Ruivenkamp, Martin

Journal:

Science as Culture

Year:

2016

Language:

english

File:

PDF, 1.37 MB

english, 2016

78

Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome

van Rij, M. C., Grijsen, M. L., Appelman-Dijkstra, N. M., Hansson, K. B. M., Ruivenkamp, C. A. L., Mulder, K., van Doorn, R., Oranje, A. P., Kant, S. G.

Journal:

European Journal of Pediatrics

Year:

2017

Language:

english

File:

PDF, 665 KB

english, 2017

79

Monosomy 18p: Risks for developing FSHD

Goossens, R., Balog, J., Lemmers, J., van den Boogaard, M., van der Vliet, P., Donlin-Smith, C., Nations, S., Kriek, M., Ruivenkamp, C., Heard, P., Bakker, B., Tapscott, S., Cody, J., Tawil, R., van d

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 209 KB

english, 2016

80

Beyond the dichotomy of instrumentality and non-instrumentality of knowledge production: The case of generation challenge programme

Basu, Soutrik, Jongerden, Joost, Ruivenkamp, Guido

Journal:

Science and Public Policy

Year:

2017

Language:

english

File:

PDF, 231 KB

english, 2017

81

Local preferences of mung bean qualities for food autonomy in India

Singh, Shweta, Singh, Renu, Dahiya, Pradeep Kumar, van Boekel, M.A.J.S., Ruivenkamp, Guido

Journal:

Development in Practice

Year:

2017

File:

PDF, 1.28 MB

2017

82

The emergence of a hybrid mode of knowledge production in the Generation Challenge Programme Rice Research Network (GCP-RRN) in India: Exploring the concept of Commons-Based Peer Production (CBPP)

Basu, Soutrik, Jongerden, Joost, Ruivenkamp, Guido

Journal:

Year:

2017

Language:

english

File:

PDF, 273 KB

english, 2017

83

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

Sollis, Elliot, Deriziotis, Pelagia, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi, Hoffer, Mariette J.V., Ruivenkamp, Claudia A.L., Alders, Mariëlle, Okamoto, Nobuhiko, Bijlsma, Emilia K., Pl

Journal:

Year:

2017

Language:

english

File:

PDF, 1.96 MB

english, 2017

84

The Journey of an Ancestral Seed: The Case of the Lupino Paisano Food Network in Cotopaxi, Ecuador

Martínez-Flores, Alexandra, Ruivenkamp, Guido, Jongerden, Joost

Journal:

Culture Agriculture Food and Environment

Year:

2017

Language:

english

File:

PDF, 170 KB

english, 2017

85

A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects

van der Linde, I. H. M., Hiemstra, Y. L., Bökenkamp, R., van Mil, A. M., Breuning, M. H., Ruivenkamp, C., ten Broeke, S. W., Veldkamp, R. F., van Waning, J. I., van Slegtenhorst, M. A., van Spaendonck

Journal:

Netherlands Heart Journal

Year:

2017

Language:

english

File:

PDF, 534 KB

english, 2017

86

Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance

Peeters-Scholte, Cacha M P C D, Adama van Scheltema, Phebe N, Klumper, Frans J C M, Everwijn, Sheila M P, Koopmans, Marije, Hoffer, Mariette J V, Koopmann, Tamara T, Ruivenkamp, Claudia A L, Steggerda

Journal:

Year:

2017

Language:

english

File:

PDF, 339 KB

english, 2017

87

Exploring Possibilities to Enhance Food Sovereignty within the Cowpea Production-Consumption Network in Northern Ghana

Quaye, Wilhelmina, Frempong, Godfred, Jongerden, Joost, Ruivenkamp, Guido

Journal:

Journal of Human Ecology

Year:

2009

Language:

english

File:

PDF, 190 KB

english, 2009

88

Two novel cases expanding the phenotype of SETD2 -related overgrowth syndrome

van Rij, Maartje C., Hollink, Iris H. I. M., Terhal, Paulien Anna, Kant, Sarina G., Ruivenkamp, Claudia, van Haeringen, Arie, Kievit, J. Anneke, van Belzen, Martine J.

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 599 KB

english, 2018

89

Rights or ability: Access to plant genetic resources in India

Patnaik, Archana, Jongerden, Joost, Ruivenkamp, Guido

Journal:

The Journal of World Intellectual Property

Year:

2018

Language:

english

File:

PDF, 505 KB

english, 2018

90

Most Lung and Colon Cancer Susceptibility Genes Are Pair-Wise Linked in Mice, Humans and Rats

Quan, Lei, Stassen, Alphons P. M., Ruivenkamp, Claudia A. L., van Wezel, Tom, Fijneman, Remond J. A., Hutson, Alan, Kakarlapudi, Neelima, Hart, Augustinus A. M., Demant, Peter, Dopazo, Joaquín

Journal:

Year:

2011

Language:

english

File:

PDF, 1.57 MB

english, 2011

91

Feasibility of hospital-initiated non-facilitator assisted advance care planning documentation for patients with palliative care needs

Kok, Maaike, van der Werff, Gertruud F. M., Geerling, Jenske I., Ruivenkamp, Jaap, Groothoff, Wies, van der Velden, Annette W. G., Thoma, Monique, Talsma, Jaap, Costongs, Louk G. P., Gans, Reinold O.

Journal:

BMC Palliative Care

Year:

2018

Language:

english

File:

PDF, 571 KB

english, 2018

92

The Prognostic Value of AJCC Staging in Uveal Melanoma Is Enhanced by Adding Chromosome 3 and 8q Status

Dogrusöz, Mehmet, Bagger, Mette, van Duinen, Sjoerd G., Kroes, Wilma G., Ruivenkamp, Claudia A. L., Böhringer, Stefan, Andersen, Klaus Kaae, Luyten, Gregorius P. M., Kiilgaard, Jens F., Jager, Martine

Journal:

Investigative Opthalmology & Visual Science

Year:

2017

File:

PDF, 937 KB

2017

93

The Prognostic Value of AJCC Staging in Uveal Melanoma Is Enhanced by Adding Chromosome 3 and 8q Status

Dogrusöz, Mehmet, Bagger, Mette, van Duinen, Sjoerd G., Kroes, Wilma G., Ruivenkamp, Claudia A. L., Böhringer, Stefan, Andersen, Klaus Kaae, Luyten, Gregorius P. M., Kiilgaard, Jens F., Jager, Martine

Journal:

Investigative Opthalmology & Visual Science

Year:

2017

Language:

english

File:

PDF, 937 KB

english, 2017

94

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway

Popov, Ivan K., Hiatt, Susan M., Whalen, Sandra, Keren, Boris, Ruivenkamp, Claudia, van Haeringen, Arie, Chen, Mei-Jan, Cooper, Gregory M., Korf, Bruce R., Chang, Chenbei

Journal:

Frontiers in Physiology

Year:

2019

Language:

english

File:

PDF, 10.24 MB

english, 2019

95

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

Fokkema, Ivo F.A.C., Velde, K. Joeri, Slofstra, Mariska K., Ruivenkamp, Claudia A.L., Vogel, Maartje J., Pfundt, Rolph, Blok, Marinus J., Lekanne Deprez, Ronald H., Waisfisz, Quinten, Abbott, Kristin

Journal:

Year:

2019

Language:

english

File:

PDF, 314 KB

english, 2019

96

WHOLE EXOME SEQUENCING IDENTIFIES KNOWN AND UNKNOWN GENES ASSOCIATED WITH MITRAL VALVE PROLAPSE

Van Wijngaarden, Aniek, Hiemstra, Yasmine L., Koopmann, Tamara T., Ruivenkamp, Claudia A.L., Aten, Emmelien, Bax, Jeroen J., Delgado, Victoria, Barge-Schaapveld, Daniela Q.C.M., Marsan, Nina Ajmone

Journal:

Journal of the American College of Cardiology

Year:

2019

File:

PDF, 202 KB

2019

97

Repurposing of diagnostic whole exome sequencing data of 1,583 individuals for clinical pharmacogenetics

Lee, Maaike, Allard, William G., Bollen, Sander, Santen, Gijs W.E., Ruivenkamp, Claudia A.L., Hoffer, Mariëtte J.V., Kriek, Marjolein, Guchelaar, Henk‐Jan, Anvar, Seyed Y., Swen, Jesse J.

Journal:

Clinical Pharmacology & Therapeutics

Year:

2019

Language:

english

File:

PDF, 1.24 MB

english, 2019

98

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

Ciolfi, Andrea, Aref-Eshghi, Erfan, Pizzi, Simone, Pedace, Lucia, Miele, Evelina, Kerkhof, Jennifer, Flex, Elisabetta, Martinelli, Simone, Radio, Francesca Clementina, Ruivenkamp, Claudia A. L., Sante

Journal:

Clinical Epigenetics

Year:

2020

Language:

english

File:

PDF, 1.50 MB

english, 2020

99

Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology

van Wijngaarden, Aniek L, Hiemstra, Yasmine L, Koopmann, Tamara T, Ruivenkamp, Claudia A L, Aten, Emmelien, Schalij, Martin J, Bax, Jeroen J, Delgado, Victoria, Barge-Schaapveld, Daniela Q C M, Ajmone

Journal:

Journal of Medical Genetics

Year:

2020

File:

PDF, 529 KB

2020

100

A new gene associated with a beta-thalassemia phenotype: the observation of variants in SUPT5H

Achour, Ahlem, Koopmann, Tamara T., Castel, Rob, Santen, Gijs W.E., Hollander, den, Nicolette, Knijnenburg, Jeroen, Ruivenkamp, Claudia A.L., Arkesteijn, Sandra G.J., Huurne, ter, Jeanet, Bisoen, Shar

Journal:

Year:

2020

File:

PDF, 1011 KB

2020