Publications:

---

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.

Frontiers In Genetics

Mellone, Simona S; Puricelli, Chiara C; Vurchio, Denise D; Ronzani, Sara S; Favini, Simone S; Maruzzi, Arianna A; Peruzzi, Cinzia C; Papa, Amanda A; Spano, Alice A; Sirchia, Fabio F; Mandrile, Giorgia G; Pelle, Alessandra A; Rasmini, Paolo P; Vercellino, Fabiana F; Zonta, Andrea A; Rabbone, Ivana I; Dianzani, Umberto U; Viri, Maurizio M; Giordano, Mara M

Publication Date: 2022

Variant appearance in text: rs28934904

PubMed Link: 36035117

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

---

Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

Jama Network Open

SoRelle, Jeffrey A JA; Pascual, Juan M JM; Gotway, Garrett G; Park, Jason Y JY

Publication Date: 2020-04-01

Variant appearance in text: rs28934904

PubMed Link: 32347949

Variant Present in the following documents:

• jamanetwopen-3-e203812-s001.pdf

View BVdb publication page

---

Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Zhang, Qingping Q; Yang, Xiaoxu X; Wang, Jiaping J; Li, Jiarui J; Wu, Qixi Q; Wen, Yongxin Y; Zhao, Ying Y; Zhang, Xiaoying X; Yao, He H; Wu, Xiru X; Yu, Shujie S; Wei, Liping L; Bao, Xinhua X

Publication Date: 2019-06

Variant appearance in text: rs28934904

PubMed Link: 30405208

Variant Present in the following documents:

View BVdb publication page

---

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Scientific Reports

Vidal, Silvia S; Brandi, Núria N; Pacheco, Paola P; Gerotina, Edgar E; Blasco, Laura L; Trotta, Jean-Rémi JR; Derdak, Sophia S; Del Mar O'Callaghan, Maria M; Garcia-Cazorla, Àngels À; Pineda, Mercè M; Armstrong, Judith J; ,

Publication Date: 2017-09-25

Variant appearance in text: rs28934904

PubMed Link: 28947817

Variant Present in the following documents:

• 41598_2017_11620_MOESM1_ESM.pdf

View BVdb publication page

---

Publication of nuclear magnetic resonance experimental data with semantic web technology and the application thereof to biomedical research of proteins.

Journal Of Biomedical Semantics

Yokochi, Masashi M; Kobayashi, Naohiro N; Ulrich, Eldon L EL; Kinjo, Akira R AR; Iwata, Takeshi T; Ioannidis, Yannis E YE; Livny, Miron M; Markley, John L JL; Nakamura, Haruki H; Kojima, Chojiro C; Fujiwara, Toshimichi T

Publication Date: 2016-05-05

Variant appearance in text: rs28934904

PubMed Link: 27927232

Variant Present in the following documents:

• 13326_2016_57_MOESM1_ESM.pdf

View BVdb publication page

---

Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes.

Orphanet Journal Of Rare Diseases

Ehrhart, Friederike F; Coort, Susan L M SL; Cirillo, Elisa E; Smeets, Eric E; Evelo, Chris T CT; Curfs, Leopold M G LM

Publication Date: 2016-11-25

Variant appearance in text: rs28934904

PubMed Link: 27884167

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs28934904

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---