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Author/Creator Simonic, Ingrid

1. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. Issue 12 (27th November 2012)

Authors:
Gordon, Christopher T; Petit, Florence; Oufadem, Myriam; Decaestecker, Charles; Jourdain, Anne-Sophie; Andrieux, Joris; Malan, Valérie; Alessandri, Jean-Luc; Baujat, Geneviève; Baumann, Clarisse; Boute-Benejean, Odile; Caumes, Roseline; Delobel, Bruno; Dieterich, Klaus; Gaillard, Dominique; Gonza...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 12(2012)
Page Start:
737
Record Type:
Journal Article
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2. Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development. Issue 2 (31st August 2018)

Authors:
Platzer, Konrad; Cogné, Benjamin; Hague, Jennifer; Marcelis, Carlo L.; Mitter, Diana; Oberndorff, Katrin; Park, Soo‐Mi; Ploos van Amstel, Hans K.; Simonic, Ingrid; van der Smagt, Jasper J.; Stegmann, Alexander P.A.; Stevens, Servi J.C.; Stumpel, Constance T.R.M.; Vincent, Marie; Lemke, Johannes R...
Journal:
Annals of neurology
Issue:
Volume 84:Issue 2(2018)
Page Start:
200
Record Type:
Journal Article
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3. Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development. Issue 2 (31st August 2018)

Authors:
Mitter, Diana; Lemke, Johannes R.; Platzer, Konrad; Jamra, Rami; Ploos van Amstel, Hans K.; van der Smagt, Jasper J.; Stegmann, Alexander P.A.; Stumpel, Constance T.R.M.; Stevens, Servi J.C.; Oberndorff, Katrin; Marcelis, Carlo L.; Cogné, Benjamin; Vincent, Marie; Simonic, Ingrid; Hague, Jennifer...
Journal:
Annals of neurology
Issue:
Volume 84:Issue 2(2018)
Page Start:
200
Record Type:
Journal Article
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4. Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation. Issue 7 (12th May 2017)

Authors:
Hague, Jennifer; Delon, Isabelle; Brugger, Kim; Martin, Howard; Sparnon, Leanne; Simonic, Ingrid; Abbs, Stephen; Park, Soo‐Mi
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 7(2017)
Page Start:
1931
Record Type:
Journal Article
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6. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. Issue 7 (24th January 2017)

Authors:
Lehalle, Daphné; Mosca-Boidron, Anne-Laure; Begtrup, Amber; Boute-Benejean, Odile; Charles, Perrine; Cho, Megan T; Clarkson, Amanda; Devinsky, Orrin; Duffourd, Yannis; Duplomb-Jego, Laurence; Gérard, Bénédicte; Jacquette, Aurélia; Kuentz, Paul; Masurel-Paulet, Alice; McDougall, Carey; Moutton, Sé...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 7(2017)
Page Start:
479
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗