Nicolette S. den Hollander

University of Groningen

H指数:35

被引数:4,299

个人简介

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教育背景

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工作经历

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荣誉奖项

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Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study (vol 109, pg 1140, 2022)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-07-010

OAAI

Schuurman, Lisanne van Prooyen; Sistermans, Erik A.; Van Opstal, Diane; Henneman, Lidewij; Bekker, Mireille N.; Bax, Caroline J.; Pieters, Mijntje J.; Bouman, Katelijne; de Munnik, Sonja; den Hollander, Nicolette S.; Diderich, Karin E. M.; Faas, Brigitte H. W.; Feenstra, Ilse; Go, Attie T. J. I.; Hoffer, Brigitte Mariette J. V.; Joosten, Marieke; Komdeur, Fenne L.; Lichtenbelt, Klaske D.; Lombardi, Maria P.; Polak, Marike G.; Jehee, Fernanda S.; Schuring-Blom, Heleen; Stevens, Servi J. C.; Srebniak, Malgorzata I.; Suijkerbuijk, Ron F.; Tan-Sindhunata, Gita M.; van der Meij, Karuna R. M.; van Maarle, Merel C.; Vernimmen, Vivian; van Zelderen-Bhola, Shama L.; van Ravesteyn, Nicolien T.; Knapen, Maarten F. C. M.; Macville, Merryn V. E.; Galjaard, Robert-Jan H.

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-06-0165

OAAI

Schuurman, Lisanne van Prooyen; Sistermans, Erik A.; Van Opstal, Diane; Henneman, Lidewij; Bekker, Mireille N.; Bax, Caroline J.; Pieters, Mijntje J.; Bouman, Katelijne; de Munnik, Sonja; den Hollander, Nicolette S.; Diderich, Karin E. M.; Faas, Brigitte H. W.; Feenstra, Ilse; Go, Attie T. J., I; Hoffer, Mariette J., V; Joosten, Marieke; Komdeur, Fenne L.; Lichtenbelt, Klaske D.; Lombardi, Maria P.; Polak, Marike G.; Jehee, Fernanda S.; Schuring-Blom, Heleen; Stevens, Servi J. C.; Srebniak, Malgorzata, I; Suijkerbuijk, Ron F.; Tan-Sindhunata, Gita M.; van der Meij, Karuna R. M.; van Maarle, Merel C.; Vernimmen, Vivian; Van Zelderen-Bhola, Shama L.; van Ravesteyn, Nicolien T.; Knapen, Maarten F. C. M.; Macville, Merryn V. E.; Galjaard, Robert-Jan H.

Non-invasive prenatal diagnosis for translocation carriers-YES please or NO go?

ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA

IF3.1

2021-09-012

OAAI

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-05-0118

OAAI

Latypova, Xenia; Vincent, Marie; Molle, Alice; Adebambo, Oluwadamilare A.; Fourgeux, Cynthia; Khan, Tahir N.; Caro, Alfonso; Rosello, Monica; Orellana, Carmen; Niyazov, Dmitriy; Lederer, Damien; Deprez, Marie; Capri, Yline; Kannu, Peter; Tabet, Anne Claude; Levy, Jonathan; Aten, Emmelien; den Hollander, Nicolette; Splitt, Miranda; Walia, Jagdeep; Immken, Ladonna L.; Stankiewicz, Pawel; McWalter, Kirsty; Suchy, Sharon; Louie, Raymond J.; Bell, Shannon; Stevenson, Roger E.; Rousseau, Justine; Willem, Catherine; Retiere, Christelle; Yang, Xiang-Jiao; Campeau, Philippe M.; Martinez, Francisco; Rosenfeld, Jill A.; Le Caignec, Cedric; Kury, Sebastien; Mercier, Sandra; Moradkhani, Kamran; Conrad, Solene; Besnard, Thomas; Cogne, Benjamin; Katsanis, Nicholas; Bezieau, Stephane; Poschmann, Jeremie; Davis, Erica E.; Isidor, Bertrand

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-12-01251

OAAI

van der Meij, Karuna R. M.; Sistermans, Erik A.; Macville, Merryn V. E.; Stevens, Servi J. C.; Bax, Caroline J.; Bekker, Mireille N.; Bilardo, Caterina M.; Boon, Elles M. J.; Boter, Marjan; Diderich, Karin E. M.; de Die-Smulders, Christine E. M.; Duin, Leonie K.; Faas, Brigitte H. W.; Feenstra, Ilse; Haak, Monique C.; Hoffer, Mariette J. V.; den Hollander, Nicolette S.; Hollink, Iris H. I. M.; Jehee, Fernanda S.; Knapen, Maarten F. C. M.; Kooper, Angelique J. A.; van Langen, Irene M.; Lichtenbelt, Klaske D.; Linskens, Ingeborg H.; van Maarle, Merel C.; Oepkes, Dick; Pieters, Mijntje J.; Schuring-Blom, G. Heleen; Sikkel, Esther; Sikkema-Raddatz, Birgit; Smeets, Dominique F. C. M.; Srebniak, Malgorzata I.; Suijkerbuijk, Ron F.; Tan-Sindhunata, Gita M.; van der Ven, A. Jeanine E. M.; van Zelderen-Bhola, Shama L.; Henneman, Lidewij; Galjaard, Robert-Jan H.; Van Opstal, Diane; Weiss, Marjan M.

From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care

GENETICS IN MEDICINE

IF6.2

2019-10-0145

OAAI

Putting genome-wide sequencing in neonates into perspective (vol 24, pg 1074, 2019)

GENETICS IN MEDICINE

IF6.2

2019-09-010

OAAI

van der Sluijs, Pleuntje J.; Aten, Emmelien; Barge-Schaapveld, Daniela Q. C. M.; Bijlsma, Emilia K.; Bokenkamp-Gramann, Regina; Kaat, Laura Donker; van Doorn, Remco; van de Putte, Dietje Fransen; van Haeringen, Arie; ten Harkel, Arend D. J.; Hilhorst-Hofstee, Yvonne; Hoffer, Mariette J. V.; den Hollander, Nicolette S.; van Ierland, Yvette; Koopmans, Marije; Kriek, Marjolein; Moghadasi, Setareh; Nibbeling, Esther A. R.; Peeters-Scholte, Cacha M. P. C. D.; Potjer, Thomas P.; van Rij, Maartje; Ruivenkamp, Claudia A. L.; Rutten, Julie W.; Steggerda, Sylke J.; Suerink, Manon; Tan, Ratna N. G. B.; van der Tuin, Karin; Visser, Remco; van der Werf-'t Lam, Anne-Sophie; Williams, Monique; Witlox, Ruben; Santen, Gijs W. E.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019)

143患者的ARID1B谱: 从非综合征性智力障碍到棺材-西里斯综合征 (第21卷，1295页，2019页)

GENETICS IN MEDICINE

IF6.2

2019-09-015

OAAI

van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, 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, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, 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.

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

143患者的ARID1B谱: 从非综合征性智力障碍到棺材-西里斯综合征

GENETICS IN MEDICINE

IF6.2

2019-06-0191

OAAI

van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, 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, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, 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.

Putting genome-wide sequencing in neonates into perspective

GENETICS IN MEDICINE

IF6.2

2019-05-0118

OAAI

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2018-05-0165

OAAI

Cheng, Hanyin; Dharmadhikari, Avinash V.; Varland, Sylvia; Ma, Ning; Domingo, Deepti; Kleyner, Robert; Rope, Alan F.; Yoon, Margaret; Stray-Pedersen, Asbjorg; Posey, Jennifer E.; Crews, Sarah R.; Eldomery, Mohammad K.; Akdemir, Zeynep Coban; Lewis, Andrea M.; Sutton, Vernon R.; Rosenfeld, Jill A.; Conboy, Erin; Agre, Katherine; Xia, Fan; Walkiewicz, Magdalena; Longoni, Mauro; High, Frances A.; van Slegtenhorst, Marjon A.; Mancini, Grazia M. S.; Finnila, Candice R.; van Haeringen, Arie; den Hollander, Nicolette; Ruivenkamp, Claudia; Naidu, Sakkubai; Mahida, Sonal; Palmer, Elizabeth E.; Murray, Lucinda; Lim, Derek; Jayakar, Parul; Parker, Michael J.; Giusto, Stefania; Stracuzzi, Emanuela; Romano, Corrado; Beighley, Jennifer S.; Bernier, Raphael A.; Kury, Sebastien; Nizon, Mathilde; Corbett, Mark A.; Shaw, Marie; Gardner, Alison; Barnett, Christopher; Armstrong, Ruth; Kassahn, Karin S.; Van Dijck, Anke; Vandeweyer, Geert; Kleefstra, Tjitske; Schieving, Jolanda; Jongmans, Marjolijn J.; de Vries, Bert B. A.; Pfundt, Rolph; Kerr, Bronwyn; Rojas, Samantha K.; Boycott, Kym M.; Person, Richard; Willaert, Rebecca; Eichler, Evan E.; Kooy, R. Frank; Yang, Yaping; Wu, Joseph C.; Lupski, James R.; Arnesen, Thomas; Cooper, Gregory M.; Chung, Wendy K.; Gecz, Jozef; Stessman, Holly A. F.; Meng, Linyan; Lyon, Gholson J.

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

GENETICS IN MEDICINE

IF6.2

2018-05-0185

OAAI

Van Opstal, Diane; van Maarle, Merel C.; Lichtenbelt, Klaske; Weiss, Marjan M.; Schuring-Blom, Heleen; Bhola, Shama L.; Hoffer, Mariette J. V.; Huijsdens-van Amsterdam, Karin; Macville, Merryn V.; Kooper, Angelique J. A.; Faas, Brigitte H. W.; Govaerts, Lutgarde; Tan-Sindhunata, Gita M.; den Hollander, Nicolette; Feenstra, Ilse; Galjaard, Robert-Jan H.; Oepkes, Dick; Ghesquiere, Stijn; Brouwer, Rutger W. W.; Beulen, Lean; Bollen, Sander; Elferink, Martin G.; Straver, Roy; Henneman, Lidewij; Page-Christiaens, Godelieve C.; Sistermans, Erik A.

EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction

MOLECULAR AUTISM

IF5.5

2018-01-2514

OAAI

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2015-12-01100

OAAI

O'Rawe, Jason A.; Wu, Yiyang; Doerfel, Max J.; Rope, Alan F.; Au, P. Y. Billie; Parboosingh, Jillian S.; Moon, Sungjin; Kousi, Maria; Kosma, Konstantina; Smith, Christopher S.; Tzetis, Maria; Schuette, Jane L.; Hufnagel, Robert B.; Prada, Carlos E.; Martinez, Francisco; Orellana, Carmen; Crain, Jonathan; Caro-Llopis, Alfonso; Oltra, Silvestre; Monfort, Sandra; Jimenez-Barron, Laura T.; Swensen, Jeffrey; Ellingwood, Sara; Smith, Rosemarie; Fang, Han; Ospina, Sandra; Stegmann, Sander; Den Hollander, Nicolette; Mittelman, David; Highnam, Gareth; Robison, Reid; Yang, Edward; Faivre, Laurence; Roubertie, Agathe; Riviere, Jean-Baptiste; Monaghan, Kristin G.; Wang, Kai; Davis, Erica E.; Katsanis, Nicholas; Kalscheuer, Vera M.; Wang, Edith H.; Metcalfe, Kay; Kleefstra, Tjitske; Innes, A. Micheil; Kitsiou-Tzeli, Sophia; Rosello, Monica; Keegan, Catherine E.; Lyon, Gholson J.

A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma

JOURNAL OF MOLECULAR DIAGNOSTICS

IF3.4

2015-09-014

OAAI

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

NATURE GENETICS

IF31.8

2012-03-18326

PREAI

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis (vol 17, pg 1560, 2009)

EUROPEAN JOURNAL OF HUMAN GENETICS