Publications:

Mutations in EPHB4 cause human venous valve aplasia.

Jci Insight

Lyons, Oliver O; Walker, James J; Seet, Christopher C; Ikram, Mohammed M; Kuchta, Adam A; Arnold, Andrew A; Hernández-Vásquez, Magda M; Frye, Maike M; Vizcay-Barrena, Gema G; Fleck, Roland A RA; Patel, Ashish S AS; Padayachee, Soundrie S; Mortimer, Peter P; Jeffery, Steve S; Berland, Siren S; Mansour, Sahar S; Ostergaard, Pia P; Makinen, Taija T; Modarai, Bijan B; Saha, Prakash P; Smith, Alberto A

Publication Date: 2021-09-22

Variant appearance in text: EPHB4: 2216G>A

PubMed Link: 34403370

Variant Present in the following documents:

• jciinsight-6-140952-s177.pdf

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Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.

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

Martin-Almedina, Silvia S; Ogmen, Kazim K; Sackey, Ege E; Grigoriadis, Dionysios D; Karapouliou, Christina C; Nadarajah, Noeline N; Ebbing, Cathrine C; Lord, Jenny J; Mellis, Rhiannon R; Kortuem, Fanny F; Dinulos, Mary Beth MB; Polun, Cassandra C; Bale, Sherri S; Atton, Giles G; Robinson, Alexandra A; Reigstad, Hallvard H; Houge, Gunnar G; von der Wense, Axel A; Becker, Wolf-Henning WH; Jeffery, Steve S; Mortimer, Peter S PS; Gordon, Kristiana K; Josephs, Katherine S KS; Robart, Sarah S; Kilby, Mark D MD; Vallee, Stephanie S; Gorski, Jerome L JL; Hempel, Maja M; Berland, Siren S; Mansour, Sahar S; Ostergaard, Pia P

Publication Date: 2021-07

Variant appearance in text: EPHB4: R739Q

PubMed Link: 33864021

Variant Present in the following documents:

• Main text
• 41436_2021_Article_1136.pdf
• 41436_2021_1136_MOESM2_ESM.pdf

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EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.

The Journal Of Clinical Investigation

Martin-Almedina, Silvia S; Martinez-Corral, Ines I; Holdhus, Rita R; Vicente, Andres A; Fotiou, Elisavet E; Lin, Shin S; Petersen, Kjell K; Simpson, Michael A MA; Hoischen, Alexander A; Gilissen, Christian C; Jeffery, Heather H; Atton, Giles G; Karapouliou, Christina C; Brice, Glen G; Gordon, Kristiana K; Wiseman, John W JW; Wedin, Marianne M; Rockson, Stanley G SG; Jeffery, Steve S; Mortimer, Peter S PS; Snyder, Michael P MP; Berland, Siren S; Mansour, Sahar S; Makinen, Taija T; Ostergaard, Pia P

Publication Date: 2016-08-01

Variant appearance in text: EPHB4: 2216G>A; Arg739Gln

PubMed Link: 27400125

Variant Present in the following documents:

• Main text
• JCI85794.sd.pdf
• JCI85794.pdf

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