Publications:

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: PTEN: 149T>C; I50T

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM6_ESM.xlsx, sheet 1

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Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.

Nature Communications

Burkhardt, Birgit B; Michgehl, Ulf U; Rohde, Jonas J; Erdmann, Tabea T; Berning, Philipp P; Reutter, Katrin K; Rohde, Marius M; Borkhardt, Arndt A; Burmeister, Thomas T; Dave, Sandeep S; Tzankov, Alexandar A; Dugas, Martin M; Sandmann, Sarah S; Fend, Falko F; Finger, Jasmin J; Mueller, Stephanie S; Gökbuget, Nicola N; Haferlach, Torsten T; Kern, Wolfgang W; Hartmann, Wolfgang W; Klapper, Wolfram W; Oschlies, Ilske I; Richter, Julia J; Kontny, Udo U; Lutz, Mathias M; Maecker-Kolhoff, Britta B; Ott, German G; Rosenwald, Andreas A; Siebert, Reiner R; von Stackelberg, Arend A; Strahm, Brigitte B; Woessmann, Wilhelm W; Zimmermann, Martin M; Zapukhlyak, Myroslav M; Grau, Michael M; Lenz, Georg G

Publication Date: 2022-07-06

Variant appearance in text: PTEN: 149T>C

PubMed Link: 35794096

Variant Present in the following documents:

• 41467_2022_31355_MOESM5_ESM.xlsx, sheet 2

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine

Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A

Publication Date: 2021-03-17

Variant appearance in text: PTEN: 149T>C; Ile50Thr

PubMed Link: 33726816

Variant Present in the following documents:

• 13073_2021_855_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report.

Molecular And Clinical Oncology

Yotsumoto, Yuka Y; Harada, Atsuko A; Tsugawa, Jiro J; Ikura, Yoshihiro Y; Utsunomiya, Hidetsuna H; Miyatake, Satoko S; Matsumoto, Naomichi N; Kanemura, Yonehiro Y; Hashimoto-Tamaoki, Tomoko T

Publication Date: 2020-04

Variant appearance in text: PTEN: I50T

PubMed Link: 32190315

Variant Present in the following documents:

• Main text
• mco-12-04-0329.pdf

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Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.

Brain Sciences

Schepici, Giovanni G; Cavalli, Eugenio E; Bramanti, Placido P; Mazzon, Emanuela E

Publication Date: 2019-10-03

Variant appearance in text: PTEN: Ile50Thr

PubMed Link: 31623367

Variant Present in the following documents:

• Main text
• brainsci-09-00265.pdf

View BVdb publication page

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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

Human Mutation

Grozeva, Detelina D; Carss, Keren K; Spasic-Boskovic, Olivera O; Tejada, Maria-Isabel MI; Gecz, Jozef J; Shaw, Marie M; Corbett, Mark M; Haan, Eric E; Thompson, Elizabeth E; Friend, Kathryn K; Hussain, Zaamin Z; Hackett, Anna A; Field, Michael M; Renieri, Alessandra A; Stevenson, Roger R; Schwartz, Charles C; Floyd, James A B JA; Bentham, Jamie J; Cosgrove, Catherine C; Keavney, Bernard B; Bhattacharya, Shoumo S; , ; , ; , ; Hurles, Matthew M; Raymond, F Lucy FL

Publication Date: 2015-12

Variant appearance in text: PTEN: 149T>C; Ile50Thr

PubMed Link: 26350204

Variant Present in the following documents:

• HUMU-36-1197-s001.pdf

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Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

American Journal Of Medical Genetics. Part A

Vanderver, Adeline A; Tonduti, Davide D; Kahn, Ilana I; Schmidt, Johanna J; Medne, Livija L; Vento, Jodie J; Chapman, Kimberly A KA; Lanpher, Brendan B; Pearl, Phillip P; Gropman, Andrea A; Lourenco, Charles C; Bamforth, John-Steven JS; Sharpe, Cynthia C; Pineda, Mercédes M; Schallner, Jens J; Bodamer, Olaf O; Orcesi, Simona S; Oberstein, Saskia A J Lesnik SA; Sistermans, Erik A EA; Yntema, Helger G HG; Bonnemann, Carsten C; Waldman, Amy T AT; van der Knaap, Marjo S MS

Publication Date: 2014-03

Variant appearance in text: PTEN: 149T>C; Ile50Thr

PubMed Link: 24375884

Variant Present in the following documents:

• Main text

View BVdb publication page

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