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Author/Creator Ramanathan, Subhadra

1. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Issue 4 (13th July 2021)

Authors:
Palmer, Elizabeth E.; Whitton, Chloe; Hashem, Mais O.; Clark, Robin D.; Ramanathan, Subhadra; Starr, Lois J.; Velasco, Danita; De Dios, John Karl; Singh, Emily; Cormier‐Daire, Valerie; Chopra, Maya; Rodan, Lance H.; Nellaker, Christoffer; Lakhani, Shenela; Mallack, Eric J.; Panzer, Karin; Sidhu, ...
Journal:
Clinical genetics
Issue:
Volume 100:Issue 4(2021)
Page Start:
468
Record Type:
Journal Article
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2. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Issue 10 (14th September 2021)

Authors:
Yabumoto, Megan; Kianmahd, Jessica; Singh, Meghna; Palafox, Maria F.; Wei, Angela; Elliott, Kathryn; Goodloe, Dana H.; Dean, S. Joy; Gooch, Catherine; Murray, Brianna K.; Swartz, Erin; Schrier Vergano, Samantha A.; Towne, Meghan C.; Nugent, Kimberly; Roeder, Elizabeth R.; Kresge, Christina; Pletc...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 10(2021)
Page Start:
n/a
Record Type:
Journal Article
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3. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Issue 7 (28th July 2021)

Authors:
Velmans, Clara; O'Donnell-Luria, Anne H; Argilli, Emanuela; Tran Mau-them, Frederic; Vitobello, Antonio; Chan, Marcus CY; Fung, Jasmine Lee-Fong; Rech, Megan; Abicht, Angela; Aubert Mucca, Marion; Carmichael, Jason; Chassaing, Nicolas; Clark, Robin; Coubes, Christine; Denommé-Pichon, Anne-Sophie;...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 7(2022)
Page Start:
697
Record Type:
Journal Article
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4. SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly. (1st August 2017)

Authors:
Stokes, Bethany; Berger, Seth I.; Hall, Beth A.; Weiss, Karin; Martinez, Ariel F.; Hadley, Donald W.; Murdock, David R.; Ramanathan, Subhadra; Clark, Robin D.; Roessler, Erich; Kruszka, Paul; Muenke, Maximilian
Journal:
Congenital anomalies
Issue:
Volume 58:Number 1(2018)
Page Start:
29
Record Type:
Journal Article
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