Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum

Por Stulp, Rein P, Herkert, Johanna C, Karrenbeld, Arend, Mol, Bart, Vos, Yvonne J, Sijmons, Rolf H
Publicado em 2008

Clinical utility gene card for: Dilated Cardiomyopathy (CMD)

Por Posafalvi, Anna, Herkert, Johanna C, Sinke, Richard J, van den Berg, Maarten P, Mogensen, Jens, Jongbloed, Jan D H, van Tintelen, J Peter
Publicado em 2013

Screening for germline DND1 mutations in testicular cancer patients

Por Sijmons, Rolf H., Vos, Yvonne J., Herkert, Johanna C., Bos, Krista K., Holzik, Martijn F. Lutke, Hoekstra-Weebers, Josette E. H. M., Hofstra, Robert M. W., Hoekstra, Harald J.
Publicado em 2010

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

Por Wessels, Marja W, Herkert, Johanna C, Frohn-Mulder, Ingrid M, Dalinghaus, Michiel, van den Wijngaard, Arthur, de Krijger, Ronald R, Michels, Michelle, de Coo, Irenaeus FM, Hoedemaekers, Yvonne M, Dooijes, Dennis
Publicado no Eur J Hum Genet (2015)

Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations

Por Qualls, Anita E., Donkervoort, Sandra, Herkert, Johanna C., D’Gama, Alissa M., Bharucha-Goebel, Diana, Collins, James, Chao, Katherine R., Foley, A. Reghan, Schoots, Mirthe H., Jongbloed, Jan D.H., Bönnemann, Carsten G., Agrawal, Pankaj B.
Publicado no Muscle Nerve (2018)

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients

Por de Bot, Susanne T, Burggraaff, Rogier C, Herkert, Johanna C, Schelhaas, Helenius J, Post, Bart, Diekstra, Adinda, van Vliet, Reinout O, van der Knaap, Marjo S, Kamsteeg, Erik-Jan, Scheffer, Hans, van de Warrenburg, Bart P, Verschuuren-Bemelmans, Corien C, Kremer, Hubertus PH
Publicado em 2013

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

Por Hanemaaijer, Nicolien M, Sikkema-Raddatz, Birgit, van der Vries, Gerben, Dijkhuizen, Trijnie, Hordijk, Roel, van Essen, Anthonie J, Veenstra-Knol, Hermine E, Kerstjens-Frederikse, Wilhelmina S, Herkert, Johanna C, Gerkes, Erica H, Leegte, Lamberta K, Kok, Klaas, Sinke, Richard J, van Ravenswaaij-Arts, Conny M A
Publicado em 2012

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

Por Hempel, Maja, Cremer, Kirsten, Ockeloen, Charlotte W., Lichtenbelt, Klaske D., Herkert, Johanna C., Denecke, Jonas, Haack, Tobias B., Zink, Alexander M., Becker, Jessica, Wohlleber, Eva, Johannsen, Jessika, Alhaddad, Bader, Pfundt, Rolph, Fuchs, Sigrid, Wieczorek, Dagmar, Strom, Tim M., van Gassen, Koen L.I., Kleefstra, Tjitske, Kubisch, Christian, Engels, Hartmut, Lessel, Davor
Publicado no Am J Hum Genet (2015)

Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

Por Thompson, Bryony A., Greenblatt, Marc S., Vallee, Maxime P., Herkert, Johanna C., Tessereau, Chloe, Young, Erin L., Adzhubey, Ivan A., Li, Biao, Bell, Russell, Feng, Bingjian, Mooney, Sean D., Radivojac, Predrag, Sunyaev, Shamil R., Frebourg, Thierry, Hofstra, Robert M.W., Sijmons, Rolf H., Boucher, Ken, Thomas, Alun, Goldgar, David E., Spurdle, Amanda B., Tavtigian, Sean V.
Publicado no Hum Mutat (2012)

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental de...

Por Slavotinek, Anne, Risolino, Maurizio, Losa, Marta, Cho, Megan T, Monaghan, Kristin G, Schneidman-Duhovny, Dina, Parisotto, Sarah, Herkert, Johanna C, Stegmann, Alexander P A, Miller, Kathryn, Shur, Natasha, Chui, Jacqueline, Muller, Eric, DeBrosse, Suzanne, Szot, Justin O, Chapman, Gavin, Pachter, Nicholas S, Winlaw, David S, Mendelsohn, Bryce A, Dalton, Joline, Sarafoglou, Kyriakie, Karachunski, Peter I, Lewis, Jane M, Pedro, Helio, Dunwoodie, Sally L, Selleri, Licia, Shieh, Joseph
Publicado no Hum Mol Genet (2017)

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

Por Jansen, Sandra, Geuer, Sinje, Pfundt, Rolph, Brough, Rachel, Ghongane, Priyanka, Herkert, Johanna C., Marco, Elysa J., Willemsen, Marjolein H., Kleefstra, Tjitske, Hannibal, Mark, Shieh, Joseph T., Lynch, Sally Ann, Flinter, Frances, FitzPatrick, David R., Gardham, Alice, Bernhard, Birgitta, Ragge, Nicola, Newbury-Ecob, Ruth, Bernier, Raphael, Kvarnung, Malin, Magnusson, E.A. Helena, Wessels, Marja W., van Slegtenhorst, Marjon A., Monaghan, Kristin G., de Vries, Petra, Veltman, Joris A., Lord, Christopher J., Vissers, Lisenka E.L.M., de Vries, Bert B.A.
Publicado no Am J Hum Genet (2017)

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

Por Verhagen, Judith M.A., van den Born, Myrthe, van der Linde, Herma C., G.J. Nikkels, Peter, Verdijk, Rob M., Kivlen, Maryann H., van Unen, Leontine M.A., Baas, Annette F., ter Heide, Henriette, van Osch-Gevers, Lennie, Hoogeveen-Westerveld, Marianne, Herkert, Johanna C., Bertoli-Avella, Aida M., van Slegtenhorst, Marjon A., Wessels, Marja W., Verheijen, Frans W., Hassel, David, Hofstra, Robert M.W., Hegde, Ramanujan S., van Hasselt, Peter M., van Ham, Tjakko J., van de Laar, Ingrid M.B.H.
Publicado no Circ Genom Precis Med (2019)

Lifelines COVID-19 cohort: investigating COVID-19 infection and its health and societal impacts in a Dutch population-based cohort

Por Mc Intyre, Katherine, Lanting, Pauline, Deelen, Patrick, Wiersma, Henry H, Vonk, Judith M, Ori, Anil P S, Jankipersadsing, Soesma A, Warmerdam, Robert, van Blokland, Irene, Boulogne, Floranne, Dijkema, Marjolein X L, Herkert, Johanna C, Claringbould, Annique, Bakker, Olivier, Lopera Maya, Esteban A, Bültmann, Ute, Zhernakova, Alexandra, Reijneveld, Sijmen A, Zijlstra, Elianne, Swertz, Morris A, Brouwer, Sandra, van Ooijen, Raun, Angelini, Viola, Dekker, Louise H, Sijtsma, Anna, Scherjon, Sicco A, Wijmenga, Cisca, Dekens, Jackie A M, Mierau, Jochen, Boezen, H Marike, Franke, Lude
Publicado no BMJ Open (2021)

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Por Deelen, Patrick, van Dam, Sipko, Herkert, Johanna C., Karjalainen, Juha M., Brugge, Harm, Abbott, Kristin M., van Diemen, Cleo C., van der Zwaag, Paul A., Gerkes, Erica H., Zonneveld-Huijssoon, Evelien, Boer-Bergsma, Jelkje J., Folkertsma, Pytrik, Gillett, Tessa, van der Velde, K. Joeri, Kanninga, Roan, van den Akker, Peter C., Jan, Sabrina Z., Hoorntje, Edgar T., te Rijdt, Wouter P., Vos, Yvonne J., Jongbloed, Jan D. H., van Ravenswaaij-Arts, Conny M. A., Sinke, Richard, Sikkema-Raddatz, Birgit, Kerstjens-Frederikse, Wilhelmina S., Swertz, Morris A., Franke, Lude
Publicado no Nat Commun (2019)

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

Por Paulussen, Aimée DC, Schrander-Stumpel, Constance T, Tserpelis, Demis C J, Spee, Matteus K M, Stegmann, Alexander P A, Mancini, Grazia M, Brooks, Alice S, Collée, Margriet, Maat-Kievit, Anneke, Simon, Marleen E H, van Bever, Yolande, Stolte-Dijkstra, Irene, Kerstjens-Frederikse, Wilhelmina S, Herkert, Johanna C, van Essen, Anthonie J, Lichtenbelt, Klaske D, van Haeringen, Arie, Kwee, Mei L, Lachmeijer, Augusta M A, Tan-Sindhunata, Gita M B, van Maarle, Merel C, Arens, Yvonne H J M, Smeets, Eric E J G L, de Die-Smulders, Christine E, Engelen, John J M, Smeets, Hubertus J, Herbergs, Jos
Publicado em 2010

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Por Nambot, Sophie, Faivre, Laurence, Mirzaa, Ghayda, Thevenon, Julien, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Goldenberg, Alice, Le Meur, Nathalie, Charollais, Aude, Mignot, Cyril, Petit, Florence, Rossi, Massimiliano, Metreau, Julia, Layet, Valérie, Amram, Daniel, Boute-Bénéjean, Odile, Bhoj, Elizabeth, Cousin, Margot A., Kruisselbrink, Teresa M., Lanpher, Brendan C., Klee, Eric W., Fiala, Elise, Grange, Dorothy K., Meschino, Wendy S., Hiatt, Susan M., Cooper, Gregory M., Olivié, Hilde, Smith, Wendy E., Dumas, Meghan, Lehman, Anna, Inglese, Cara, Nizon, Mathilde, Guerrini, Renzo, Vetro, Annalisa, Kaplan, Eitan S., Miramar, Dolores, Van Gils, Julien, Fergelot, Patricia, Bodamer, Olaf, Herkert, Johanna C., Pajusalu, Sander, Õunap, Katrin, Filiano, James J., Smol, Thomas, Piton, Amélie, Gérard, Bénédicte, Chantot-Bastaraud, Sandra, Bienvenu, Thierry, Li, Dong, Juusola, Jane, Devriendt, Koen, Bilan, Frederic, Poé, Charlotte, Chevarin, Martin, Jouan, Thibaud, Tisserant, Emilie, Rivière, Jean-Baptiste, Tran Mau-Them, Frédéric, Philippe, Christophe, Duffourd, Yannis, Dobyns, William B., Hevner, Robert, Thauvin-Robinet, Christel
Publicado no Eur J Hum Genet (2020)

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Por Lahrouchi, Najim, Postma, Alex V., Salazar, Christian M., De Laughter, Daniel M., Tjong, Fleur, Piherová, Lenka, Bowling, Forrest Z., Zimmerman, Dominic, Lodder, Elisabeth M., Ta-Shma, Asaf, Perles, Zeev, Beekman, Leander, Ilgun, Aho, Gunst, Quinn, Hababa, Mariam, Škorić-Milosavljević, Doris, Stránecký, Viktor, Tomek, Viktor, de Knijff, Peter, de Leeuw, Rick, Robinson, Jamille Y., Burn, Sabrina C., Mustafa, Hiba, Ambrose, Matthew, Moss, Timothy, Jacober, Jennifer, Niyazov, Dmitriy M., Wolf, Barry, Kim, Katherine H., Cherny, Sara, Rousounides, Andreas, Aristidou-Kallika, Aphrodite, Tanteles, George, Ange-Line, Bruel, Denommé-Pichon, Anne-Sophie, Francannet, Christine, Ortiz, Damara, Haak, Monique C., Ten Harkel, Arend D.J., Manten, Gwendolyn T.R., Dutman, Annemiek C., Bouman, Katelijne, Magliozzi, Monia, Radio, Francesca Clementina, Santen, Gijs W.E., Herkert, Johanna C., Brown, H. Alex, Elpeleg, Orly, van den Hoff, Maurice J.B., Mulder, Barbara, Airola, Michael V., Kmoch, Stanislav, Barnett, Joey V., Clur, Sally-Ann, Frohman, Michael A., Bezzina, Connie R.
Publicado no J Clin Invest (2021)

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Por van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.
Publicado no Genet Med (2018)

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Por van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Calvo, Amparo Sanchis, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.
Publicado no Genet Med (2019)