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Author/Creator Oegema, Renske

1. EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia. Issue 4 (11th November 2019)

Authors:
Oegema, Renske; McGillivray, George; Leventer, Richard; Le Moing, Anne‐Gaëlle; Bahi‐Buisson, Nadia; Barnicoat, Angela; Mandelstam, Simone; Francis, David; Francis, Fiona; Mancini, Grazia M. S.; Savelberg, Sanne; van Haaften, Gijs; Mankad, Kshitij; Lequin, Maarten H.
Other Names:
Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 181:Issue 4(2019)
Page Start:
627
Record Type:
Journal Article
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2. Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants. Issue 2 (23rd November 2020)

Authors:
Jacobs, Eva Z.; Brown, Kathleen; Byler, Melissa C.; D'haenens, Erika; Dheedene, Annelies; Henderson, Lindsay B.; Humberson, Jennifer B.; van Jaarsveld, Richard H.; Kanani, Farah; Lebel, Robert Roger; Millan, Francisca; Oegema, Renske; Oostra, Ann; Parker, Michael J.; Rhodes, Lindsay; Saenz, Marga...
Journal:
Clinical genetics
Issue:
Volume 99:Issue 2(2021)
Page Start:
259
Record Type:
Journal Article
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3. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Issue Volume 47:Issue D1(2019) (22nd November 2018)

Authors:
Köhler, Sebastian; Carmody, Leigh; Vasilevsky, Nicole; Jacobsen, Julius O B; Danis, Daniel; Gourdine, Jean-Philippe; Gargano, Michael; Harris, Nomi L; Matentzoglu, Nicolas; McMurry, Julie A; Osumi-Sutherland, David; Cipriani, Valentina; Balhoff, James P; Conlin, Tom; Blau, Hannah; Baynam, Ga...
Journal:
Nucleic acids research
Issue:
Volume 47:Issue D1(2019)
Page Start:
D1018
Record Type:
Journal Article
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4. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders. Issue 11 (21st August 2022)

Authors:
Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat‐Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Palomares Bralo, María; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; ...
Other Names:
Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 11(2022)
Page Start:
1609
Record Type:
Journal Article
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6. Novel no‐stop FLNA mutation causes multi‐organ involvement in males. Issue 9 (19th July 2013)

Authors:
Oegema, Renske; Hulst, Jessie M.; Theuns‐Valks, Sabine D.M.; van Unen, Leontine M.A.; Schot, Rachel; Mancini, Grazia M.S.; Schipper, Marguerite E.I.; de Wit, Marie C.Y.; Sibbles, Barbara J.; de Coo, Irenaeus F.M.; Nanninga, Veerle; Hofstra, Robert M.W.; Halley, Dicky J.J.; Brooks, Alice S.
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 9(2013:Sep.)
Page Start:
2376
Record Type:
Journal Article
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7. Novel no‐stop FLNA mutation causes multi‐organ involvement in males. Issue 9 (19th July 2013)

Authors:
Oegema, Renske; Hulst, Jessie M.; Theuns‐Valks, Sabine D.M.; van Unen, Leontine M.A.; Schot, Rachel; Mancini, Grazia M.S.; Schipper, Marguerite E.I.; de Wit, Marie C.Y.; Sibbles, Barbara J.; de Coo, Irenaeus F.M.; Nanninga, Veerle; Hofstra, Robert M.W.; Halley, Dicky J.J.; Brooks, Alice S.
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 9(2013:Sep.)
Page Start:
2376
Record Type:
Journal Article
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8. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants. (17th May 2022)

Authors:
Schwarz, Niklas; Seiffert, Simone; Pendziwiat, Manuela; Rademacher, Annika Verena; Brünger, Tobias; Hedrich, Ulrike B.S.; Augustijn, Paul B.; Baier, Hartmut; Bayat, Allan; Bisulli, Francesca; Buono, Russell J.; Bruria, Ben Zeev; Doyle, Michael G.; Guerrini, Renzo; Heimer, Gali; Iacomino, Michele;...
Journal:
Neurology
Issue:
Volume 98:Number 20(2022)
Page Start:
e2046
Record Type:
Journal Article
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9. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants. (17th May 2022)

Authors:
Schwarz, Niklas; Seiffert, Simone; Pendziwiat, Manuela; Rademacher, Annika Verena; Brünger, Tobias; Hedrich, Ulrike B.S.; Augustijn, Paul B.; Baier, Hartmut; Bayat, Allan; Bisulli, Francesca; Buono, Russell J.; Bruria, Ben Zeev; Doyle, Michael G.; Guerrini, Renzo; Heimer, Gali; Iacomino, Michele;...
Journal:
Neurology
Issue:
Volume 98:Number 20(2022)
Page Start:
e2046
Record Type:
Journal Article
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10. The spectrum of brain malformations and disruptions in twins. Issue 9 (18th November 2020)

Authors:
Park, Kaylee B.; Chapman, Teresa; Aldinger, Kimberly A.; Mirzaa, Ghayda M.; Zeiger, Jordan; Beck, Anita; Glass, Ian A.; Hevner, Robert F.; Jansen, Anna C.; Marshall, Desiree A.; Oegema, Renske; Parrini, Elena; Saneto, Russell P.; Curry, Cynthia J.; Hall, Judith G.; Guerrini, Renzo; Leventer, Rich...
Other Names:
Burkardt Deepika D'Cunha guestEditor.; Sanchez‐Lara Pedro A guestEditor.; Girisha Katta M guestEditor.; Carey John C guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 9(2021)
Page Start:
2690
Record Type:
Journal Article
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