Publications:

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.

Clinical Epigenetics

Pignata, Laura L; Cecere, Francesco F; Verma, Ankit A; Hay Mele, Bruno B; Monticelli, Maria M; Acurzio, Basilia B; Giaccari, Carlo C; Sparago, Angela A; Hernandez Mora, Jose Ramon JR; Monteagudo-Sánchez, Ana A; Esteller, Manel M; Pereda, Arrate A; Tenorio-Castano, Jair J; Palumbo, Orazio O; Carella, Massimo M; Prontera, Paolo P; Piscopo, Carmelo C; Accadia, Maria M; Lapunzina, Pablo P; Cubellis, Maria Vittoria MV; de Nanclares, Guiomar Perez GP; Monk, David D; Riccio, Andrea A; Cerrato, Flavia F

Publication Date: 2022-05-28

Variant appearance in text: rs142463014

PubMed Link: 35643636

Variant Present in the following documents:

• 13148_2022_1292_MOESM4_ESM.pdf

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: rs142463014

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 1

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs142463014

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page