Mariet W. Elting - Publications, H-index & Citations

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Mariet W. Elting

university of pennsylvania

20H-index

42Paper Count

2.0KCitation Count

Published Papers 22

Publication Date

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2025-03-01

OAAI

Kennis, Milou G. P.; Rots, Dmitrijs; Bouman, Arjan; Ockeloen, Charlotte W.; Boelen, Caroline; Marcelis, Carlo L. M.; de Vries, Bert B. A.; Elting, Mariet W.; Waisfisz, Quinten; Suri, Mohnish; Font-Montgomery, Esperanza; Peck, Dawn S.; Donnelly, Deirdre E.; Rogers, R. Curtis; Richardson, Ruth; Caumes, Roseline; Chaumette, Boris; Louveau, Cecile; Sallevelt, Suzanne C. E. H.; Maas, Saskia M.; Smits, Jeroen J.; van Haelst, Mieke M.; Levy, Rebecca J.; Stewart, Helen; Loeys, Bart L.; Pfundt, Rolph; Kleefstra, Tjitske; Blok, Lot Snijders

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Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta

CALCIFIED TISSUE INTERNATIONAL

IF3.2

2024-11-13

OAAI

Celli, Luca; Garrelfs, Mark R.; Sakkers, Ralph J. B.; Elting, Mariet W.; Celli, Mauro; Boekenkamp, Arend; Smits, Cas; Goderie, Thade; Smit, Jan Maerten; Schwarte, Lothar A.; Schober, Patrick R.; Lubbers, Wouter D.; Visser, Marieke C.; Kievit, Arthur J.; van Royen, Barend J.; Gilijamse, Marjolijn; Schreuder, Willem H.; Rustemeyer, Thomas; Pramana, Angela; Hendrickx, Jan-Jaap; Dahele, Max R.; Saeed, Peerooz; Moll, Annette C.; Curro-Tafili, Katie R.; Ghyczy, Ebba A. E.; Dickhoff, Chris; de Leeuw, Robert A.; Bonjer, Jaap H.; Nieuwenhuijzen, Jakko A.; Konings, Thelma C.; Engelsman, Anton F.; Eeckhout, Augustinus M.; van den Aardweg, Joost G.; Thoral, Patrick J.; Noske, David P.; Dubois, Leander; Teunissen, Berend P.; Semler, Oliver; Wekre, Lena Lande; Maasalu, Katre; Maertson, Aare; Sangiorgi, Luca; Versacci, Paolo; Riminucci, Mara; Grammatico, Paola; Zambrano, Anna; Martini, Lorena; Castori, Marco; Botman, Esmee; Westerheim, Ingunn; Zhytnik, Lidiia; Micha, Dimitra; Eekhoff, Elisabeth Marelise W.

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DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2024-07-01

OAAI

van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananilia; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A.; Trajkova, Slavica; Huisman, Sylvia A.; Bijlsma, Emilia K.; Kleefstra, Tjitske; van Bon, Bregje W.; Baysal, Ozlem; Zweier, Christiane; Palomares-Bralo, Maria; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amelie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W.; van Hagen, Johanna M.; Plomp, Astrid S.; Mannens, Marcel M. A. M.; Alders, Marielle; van Haelst, Mieke M.; Ferrero, Giovanni B.; Brusco, Alfredo; Henneman, Peter; Sweetser, David A.; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A.

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The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes

HUMAN GENETICS

IF3.6

2024-05-24

OAAI

Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K. M.; Rooney, Kathleen; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Pfundt, Rolph; Elting, Mariet W.; van Hagen, Johanna M.; Verbeek, Nienke E.; Jongmans, Marjolijn C. J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gael; Busa, Tiffany; Toutain, Annick; Gerard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E.; Ounap, Katrin; Hoffer, Mariette J. V.; Nezarati, Marjan M.; van den Boogaard, Marie-Jose H.; Tedder, Matthew L.; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B.; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A. M.; Stuurman, Kyra E.; Mannens, Marcel M. A. M.; Alders, Marielle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M.

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Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1

CALCIFIED TISSUE INTERNATIONAL

IF3.2

2023-06-06

OAAI

Verdonk, S. J. E.; Storoni, S.; Zhytnik, L.; Zhong, W.; Pals, G.; van Royen, B. J.; Elting, M. W.; Maugeri, A.; Eekhoff, E. M. W.; Micha, D.

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DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants

EPIGENOMICS

IF2.6

2023-05-30

PREAI

Vos, Niels; Reilly, Jack; Elting, Mariet W.; Campeau, Philippe M.; Coman, David; Stark, Zornitza; Tan, Tiong Yang; Amor, David J.; Kaur, Simran; StJohn, Miya; Morgan, Angela T.; Kamien, Benjamin A.; Patel, Chirag; Tedder, Matthew L.; Merla, Giuseppe; Prontera, Paolo; Castori, Marco; Muru, Kai; Collins, Felicity; Christodoulou, John; Smith, Janine; Zeev, Bruria Ben; Murgia, Alessandra; Leonardi, Emanuela; Esber, Natacha; Martinez-Monseny, Antonio; Casas-Alba, Didac; Wallis, Matthew; Mannens, Marcel; Levy, Michael A.; Relator, Raissa; Alders, Marielle; Sadikovic, Bekim

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Bone Microarchitecture and Strength Changes During Teriparatide and Zoledronic Acid Treatment in a Patient with Pregnancy and Lactation-Associated Osteoporosis with Multiple Vertebral Fractures

CALCIFIED TISSUE INTERNATIONAL

IF3.2

2023-02-10

OAAI

Treurniet, Sanne; Bevers, Melissa S. A. M.; Wyers, Caroline E. E.; Micha, Dimitra; Teunissen, Bernd P. P.; Elting, Mariet W. W.; van den Bergh, Joop P. P.; Eekhoff, Elisabeth M. W.

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Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

HUMAN MUTATION

IF3.7

2022-08-21

OAAI

Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, Maria Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S.; Cherick, Florian; Foroutan, Aidin; Friez, Michael J.; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A.; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J.; Maitz, Silvia; Milani, Donatella; Morgan, Angela T.; Oegema, Renske; Ostergaard, Elsebet; Pallares, Nathalie R.; Piccione, Maria; Plomp, Astrid S.; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W. E.; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella M.; St John, Miya; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J.; Vergano, Samantha A.; Vos, Niels; Walden, Kellie K.; Azmanov, Dimitar; Balci, Tugce B.; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A.; Mannens, Marcel M. A. M.; Roscioli, Tony; Siu, Victoria; Amor, David J.; Baynam, Gareth; Bend, Eric G.; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M.; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A.; Fleming, Mark D.; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D.; McNeill, Alisdair; Menke, Leonie A.; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A.; Stevenson, Roger E.; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L.; Sadikovic, Bekim

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Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study

FRONTIERS IN ENDOCRINOLOGY

IF4.6

2022-04-25

OAAI

Storoni, Silvia; Treurniet, Sanne; Maugeri, Alessandra; Pals, Gerard; van den Aardweg, Joost G.; van der Pas, Stephanie L.; Elting, Mariet W.; Kloen, Peter; Micha, Dimitra; Eekhoff, Elisabeth Marelise W.

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Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan: Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy

FRONTIERS IN MEDICINE

IF3

2021-10-18

OAAI

Stuurman, Kyra E.; Van der Mespel-Brouwer, Marjolein H.; Engels, Melanie A. J.; Elting, Mariet W.; Bhola, Shama L.; Meijers-Heijboer, Hanne

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Collagen transport and related pathways in Osteogenesis Imperfecta

HUMAN GENETICS

IF3.6

2021-06-24

OAAI

Claeys, Lauria; Storoni, Silvia; Eekhoff, Marelise; Elting, Mariet; Wisse, Lisanne; Pals, Gerard; Bravenboer, Nathalie; Maugeri, Alessandra; Micha, Dimitra

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KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants (vol 21, 10.1038/s41436-018-0259-2, 2019)

GENETICS IN MEDICINE

IF6.2

2020-11-01

OAAI

Kennedy, Joanna; Goudie, David; Blair, Edward; Chandler, Kate; Joss, Shelagh; McKay, Victoria; Green, Andrew; Armstrong, Ruth; Lees, Melissa; Kamien, Benjamin; Hopper, Bruce; Tan, Tiong Yang; Yap, Patrick; Stark, Zornitza; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Macnamara, Ellen; Murphy, Jennifer L.; McCormick, Elizabeth; Hakonarson, Hakon; Falk, Marni J.; Li, Dong; Blackburn, Patrick; Klee, Eric; Babovic-Vuksanovic, Dusica; Schelley, Susan; Hudgins, Louanne; Kant, Sarina; Isidor, Bertrand; Cogne, Benjamin; Bradbury, Kimberley; Williams, Mark; Patel, Chirag; Heussler, Helen; Duff-Farrier, Celia; Lakeman, Phillis; Scurr, Ingrid; Kini, Usha; Elting, Mariet; Reijnders, Margot; Schuurs-Hoeijmakers, Janneke; Wafik, Mohamed; Blomhoff, Anne; Ruivenkamp, Claudia A. L.; Nibbeling, Esther; Dingemans, Alexander J. M.; Douine, Emilie D.; Nelson, Stanley F.; Hempel, Maja; Bierhals, Tatjana; Lessel, Davor; Johannsen, Jessika; Arboleda, Valerie A.; Newbury-Ecob, Ruth

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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-09-01

OAAI

Motta, Marialetizia; Pannone, Luca; Pantaleoni, Francesca; Bocchinfuso, Gianfranco; Radio, Francesca Clementina; Cecchetti, Serena; Ciolfi, Andrea; Di Rocco, Martina; Elting, Mariet W.; Brilstra, Eva H.; Boni, Stefania; Mazzanti, Laura; Tamburrino, Federica; Walsh, Larry; Payne, Katelyn; Fernandez-Jaen, Alberto; Ganapathi, Mythily; Chung, Wendy K.; Grange, Dorothy K.; Dave-Wala, Ashita; Reshmi, Shalini C.; Bartholomew, Dennis W.; Mouhlas, Danielle; Carpentieri, Giovanna; Bruselles, Alessandro; Pizzi, Simone; Bellacchio, Emanuele; Piceci-Sparascio, Francesca; Lissewski, Christina; Brinkmann, Julia; Waclaw, Ronald R.; Waisfisz, Quinten; van Gassen, Koen; Wentzensen, Ingrid M.; Morrow, Michelle M.; Alvarez, Sara; Martinez-Garcia, Monica; De Luca, Alessandro; Memo, Luigi; Zampino, Giuseppe; Rossi, Cesare; Seri, Marco; Gelb, Bruce D.; Zenker, Martin; Dallapiccola, Bruno; Stella, Lorenzo; Prada, Carlos E.; Martinelli, Simone; Flex, Elisabetta; Tartaglia, Marco

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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2019-09-05

OAAI

Pennings, Maartje; Schouten, Meyke, I; van Gaalen, Judith; Meijer, Rowdy P. P.; de Bot, Susanne T.; Kriek, Marjolein; Saris, Christiaan G. J.; van den Berg, Leonard H.; van Es, Michael A.; Zuidgeest, Dick M. H.; Elting, Mariet W.; van de Kamp, Jiddeke M.; Van Spaendonck-Zwarts, Karin Y.; de Die-Smulders, Christine; Brilstra, Eva H.; Verschuuren, Corien C.; de Vries, Bert B. A.; Bruijn, Jacques; Sofou, Kalliopi; Duijkers, Floor A.; Jaeger, B.; Schieving, Jolanda H.; van de Warrenburg, Bart P.; Kamsteeg, Erik-Jan

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De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

BRAIN

IF11.7

2019-08-29

OAAI

Horn, Susanne; Au, Margaret; Basel-Salmon, Lina; Bayrak-Toydemir, Pinar; Chapin, Alexander; Cohen, Lior; Elting, Mariet W.; Graham, John M., Jr.; Gonzaga-Jauregui, Claudia; Konen, Osnat; Holzer, Max; Lemke, Johannes; Miller, Christine E.; Rey, Linda K.; Wolf, Nicole I.; Weiss, Marjan M.; Waisfisz, Quinten; Mirzaa, Ghayda M.; Wieczorek, Dagmar; Sticht, Heinrich; Abou Jamra, Rami

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Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era

JOURNAL OF MEDICAL GENETICS

IF3.7

2019-04-30

OAAI

Stuurman, Kyra E.; Joosten, Marieke; van der Burgt, Ineke; Elting, Mariet; Yntema, Helger G.; Meijers-Heijboer, Hanne; Rinne, Tuula

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Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2016-06-01

OAAI

Madeo, Marianna; Stewart, Michelle; Sun, Yuyang; Sahir, Nadia; Wiethoff, Sarah; Chandrasekar, Indra; Yarrow, Anna; Rosenfeld, Jill A.; Yang, Yaping; Cordeiro, Dawn; McCormick, Elizabeth M.; Muraresku, Colleen C.; Jepperson, Tyler N.; McBeth, Lauren J.; Seidahmed, Mohammed Zain; El Khashab, Heba Y.; Hamad, Muddathir; Azzedine, Hamid; Clark, Karl; Corrochano, Silvia; Wells, Sara; Elting, Mariet W.; Weiss, Marjan M.; Burn, Sabrina; Myers, Angela; Landsverk, Megan; Crotwell, Patricia L.; Waisfisz, Quinten; Wolf, Nicole I.; Nolan, Patrick M.; Padilla-Lopez, Sergio; Houlden, Henry; Lifton, Richard; Mane, Shrikant; Singh, Brij B.; Falk, Marni J.; Mercimek-Mahmutoglu, Saadet; Bilguvar, Kaya; Salih, Mustafa A.; Acevedo-Arozena, Abraham; Kruer, Michael C.

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Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics

HUMAN MUTATION

IF3.7

2013-07-16

OAAI

Rigter, Tessel; Henneman, Lidewij; Kristoffersson, Ulf; Hall, Alison; Yntema, Helger G.; Borry, Pascal; Tonnies, Holger; Waisfisz, Quinten; Elting, Mariet W.; Dondorp, Wybo J.; Cornel, Martina C.

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PPIB Mutations Cause Severe Osteogenesis Imperfecta

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2009-10-01

229

OAAI

van Dijk, Fleur S.; Nesbitt, Isabel M.; Zwikstra, Eline H.; Nikkels, Peter G. J.; Piersma, Sander R.; Fratantoni, Silvina A.; Jimenez, Connie R.; Huizer, Margriet; Morsman, Alice C.; Cobben, Jan M.; van Roij, Miriam H. H.; Elting, Mariet W.; Verbeke, Jonathan I. M. L.; Wijnaendts, Liliane C. D.; Shaw, Nick J.; Hoegler, Wolfgang; McKeown, Carole; Sistermans, Erik A.; Dalton, Ann; Meijers-Heijboer, Hanne; Pals, Gerard

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Obesity, rather than menstrual cycle pattern or follicle cohort size, determines hyperinsulinaemia, dyslipidaemia and hypertension in ageing women with polycystic ovary syndrome

CLINICAL ENDOCRINOLOGY

IF2.4

2002-01-12

PREAI

Elting, MW; Korsen, TJM; Schoemaker, J

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Research Directions