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Author/Creator Groepper, Daniel

1. De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype. Issue 5 (7th February 2020)

Authors:
Chilton, Ilana; Okur, Volkan; Vitiello, Giuseppina; Selicorni, Angelo; Mariani, Milena; Goldenberg, Alice; Husson, Thomas; Campion, Dominique; Lichtenbelt, Klaske D.; van Gassen, Koen; Steinraths, Michelle; Rice, Jennifer; Roeder, Elizabeth R.; Littlejohn, Rebecca O.; Srour, Myriam; Sebire, Guill...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 5(2020)
Page Start:
962
Record Type:
Journal Article
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2. Loeys–Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype. Issue 7 (15th April 2022)

Authors:
Fry, Deanna; Groepper, Daniel; MacCarrick, Gretchen; Demo, Erin M.; Thomas, Matthew J.; Wilkes, Margaret J.; Lyons, Michael J.; Tucker, Megan E.; Steding, Catherine; Fleischer, Julie
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 7(2022)
Page Start:
2237
Record Type:
Journal Article
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3. TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Issue 4 (1st March 2021)

Authors:
van Woerden, Geeske M.; Bos, Melanie; de Konink, Charlotte; Distel, Ben; Avagliano Trezza, Rossella; Shur, Natasha E.; Barañano, Kristin; Mahida, Sonal; Chassevent, Anna; Schreiber, Allison; Erwin, Angelika L.; Gripp, Karen W.; Rehman, Fatima; Brulleman, Saskia; McCormack, Róisín; de Geus, Gwynna...
Journal:
Human mutation
Issue:
Volume 42:Issue 4(2021)
Page Start:
445
Record Type:
Journal Article
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5. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. (26th May 2021)

Authors:
Ernst, Michelle E.; Baugh, Evan H.; Thomas, Amanda; Bier, Louise; Lippa, Natalie; Stong, Nicholas; Mulhern, Maureen S.; Kushary, Sulagna; Akman, Cigdem I.; Heinzen, Erin L.; Yeh, Raymond; Bi, Weimin; Hanchard, Neil A.; Burrage, Lindsay C.; Leduc, Magalie S.; Chong, Josephine S. C.; Bend, Renee; L...
Journal:
Epilepsia
Issue:
Volume 62:issue 7(2021)
Page Start:
e103
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗