Subhadra Ramanathan
Overview
Explore the profile of Subhadra Ramanathan including associated specialties, affiliations and a list of published articles.
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11
Citations
133
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Recent Articles
1.
Calame D, Wong J, Panda P, Nguyen D, Leong N, Sangermano R, et al.
Genet Med
. 2024 Sep;
27(1):101273.
PMID: 39306721
Purpose: FLVCR1 encodes a solute carrier protein implicated in heme, choline, and ethanolamine transport. Although Flvcr1 mice exhibit skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia (DBA), biallelic FLVCR1...
2.
Calame D, Wong J, Panda P, Nguyen D, Leong N, Sangermano R, et al.
medRxiv
. 2024 Feb;
PMID: 38405817
encodes Feline leukemia virus subgroup C receptor 1 (FLVCR1), a solute carrier (SLC) transporter within the Major Facilitator Superfamily. FLVCR1 is a widely expressed transmembrane protein with plasma membrane and...
3.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, et al.
Am J Med Genet A
. 2023 Jun;
191(8):2113-2131.
PMID: 37377026
Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial,...
4.
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff J, et al.
Genet Med
. 2023 May;
25(8):100885.
PMID: 37165955
Purpose: Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability. Methods: By international collaboration, we assembled...
5.
Yabumoto M, Kianmahd J, Singh M, Palafox M, Wei A, Elliott K, et al.
Mol Genet Genomic Med
. 2021 Sep;
9(10):e1809.
PMID: 34519438
The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say-Barber-Biesecker-Young-Simpson Syndrome and Genitopatellar Syndrome. Here we present 20...
6.
Velmans C, ODonnell-Luria A, Argilli E, Mau-Them F, Vitobello A, Chan M, et al.
J Med Genet
. 2021 Jul;
59(7):697-705.
PMID: 34321323
Background: O'Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, mostly truncating variants in . It was first described by O'Donnell-Luria in 2019 in a cohort of 38...
7.
Palmer E, Whitton C, Hashem M, Clark R, Ramanathan S, Starr L, et al.
Clin Genet
. 2021 Jul;
100(4):468-477.
PMID: 34212383
We describe the clinical features of nine unrelated individuals with rare de novo missense or in-frame deletions/duplications within the "HX motif" of exon 7 of ATN1. We previously proposed that...
8.
Stokes B, Berger S, Hall B, Weiss K, Martinez A, Hadley D, et al.
Congenit Anom (Kyoto)
. 2017 Jul;
58(1):29-32.
PMID: 28670735
Holoprosencephaly (HPE) is failure of the forebrain to divide completely during embryogenesis. Incomplete penetrance has not been reported previously in SIX3 whole gene deletions, which are known to cause HPE....
9.
Lindstrand A, Davis E, Carvalho C, Pehlivan D, Willer J, Tsai I, et al.
Am J Hum Genet
. 2014 Apr;
94(5):745-54.
PMID: 24746959
Homozygosity for a recurrent 290 kb deletion of NPHP1 is the most frequent cause of isolated nephronophthisis (NPHP) in humans. A deletion of the same genomic interval has also been...
10.
Muller E, Aradhya S, Atkin J, Carmany E, Elliott A, Chudley A, et al.
Am J Med Genet A
. 2011 Dec;
158A(2):391-9.
PMID: 22190277
Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (OMIM #109400) is a well-described rare autosomal dominant condition due to haploinsufficiency of PTCH1. With the availability of comparative genomic...