Publications:

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.

Molecular Psychiatry

Kaspi, Antony A; Hildebrand, Michael S MS; Jackson, Victoria E VE; Braden, Ruth R; van Reyk, Olivia O; Howell, Tegan T; Debono, Simone S; Lauretta, Mariana M; Morison, Lottie L; Coleman, Matthew J MJ; Webster, Richard R; Coman, David D; Goel, Himanshu H; Wallis, Mathew M; Dabscheck, Gabriel G; Downie, Lilian L; Baker, Emma K EK; Parry-Fielder, Bronwyn B; Ballard, Kirrie K; Harrold, Eva E; Ziegenfusz, Shaun S; Bennett, Mark F MF; Robertson, Erandee E; Wang, Longfei L; Boys, Amber A; Fisher, Simon E SE; Amor, David J DJ; Scheffer, Ingrid E IE; Bahlo, Melanie M; Morgan, Angela T AT

Publication Date: 2022-09-18

Variant appearance in text: F2: 1792G>A

PubMed Link: 36117209

Variant Present in the following documents:

• 41380_2022_Article_1764.pdf

View BVdb publication page

Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: F2: 1792G>A; G598R

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine

Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D

Publication Date: 2019-12

Variant appearance in text: F2: 1792G>A

PubMed Link: 31792460

Variant Present in the following documents:

• 41591_2019_654_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Autoinhibition of a Neuronal Kinesin UNC-104/KIF1A Regulates the Size and Density of Synapses.

Cell Reports

Niwa, Shinsuke S; Lipton, David M DM; Morikawa, Manatsu M; Zhao, Charles C; Hirokawa, Nobutaka N; Lu, Hang H; Shen, Kang K

Publication Date: 2016-08-23

Variant appearance in text: F2: G598R

PubMed Link: 27524618

Variant Present in the following documents:

• Main text

View BVdb publication page