Publications:

---

A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?

American Journal Of Medical Genetics. Part A

Upton, Paul P; Richards, Susan S; Bates, Angela A; Niederhoffer, Karen Y KY; Morrell, Nicholas W NW; Christian, Susan S

Publication Date: 2022-10-19

Variant appearance in text: BMP9: R151X

PubMed Link: 36259599

Variant Present in the following documents:

• Main text
• AJMG-191-228.pdf

View BVdb publication page

---

Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.

Frontiers In Pediatrics

Imafidon, Miriam E ME; Sikkema-Raddatz, Birgit B; Abbott, Kristin M KM; Meems-Veldhuis, Martine T MT; Swertz, Morris A MA; van der Velde, K Joeri KJ; Beunders, Gea G; Bos, Dennis K DK; Knoers, Nine V A M NVAM; Kerstjens-Frederikse, Wilhelmina S WS; van Diemen, Cleo C CC

Publication Date: 2021

Variant appearance in text: GDF2: 451C>T

PubMed Link: 34136434

Variant Present in the following documents:

• Main text
• fped-09-600556.pdf

View BVdb publication page

---

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.

Molecular Genetics & Genomic Medicine

Hodgson, Joshua J; Ruiz-Llorente, Lidia L; McDonald, Jamie J; Quarrell, Oliver O; Ugonna, Kelechi K; Bentham, James J; Mason, Rebecca R; Martin, Jennifer J; Moore, David D; Bergstrom, Katie K; Bayrak-Toydemir, Pinar P; Wooderchak-Donahue, Whitney W; Morrell, Nicholas W NW; Condliffe, Robin R; Bernabeu, Carmelo C; Upton, Paul D PD

Publication Date: 2021-12

Variant appearance in text: GDF2: Arg151Ter

PubMed Link: 33834622

Variant Present in the following documents:

• Main text
• MGG3-9-e1685.pdf

View BVdb publication page

---

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.

Molecular Genetics & Genomic Medicine

Hodgson, Joshua J; Ruiz-Llorente, Lidia L; McDonald, Jamie J; Quarrell, Oliver O; Ugonna, Kelechi K; Bentham, James J; Mason, Rebecca R; Martin, Jennifer J; Moore, David D; Bergstrom, Katie K; Bayrak-Toydemir, Pinar P; Wooderchak-Donahue, Whitney W; Morrell, Nicholas W NW; Condliffe, Robin R; Bernabeu, Carmelo C; Upton, Paul D PD

Publication Date: 2021-04-09

Variant appearance in text: GDF2: Arg151Ter

PubMed Link: 33834622

Variant Present in the following documents:

• Main text
• MGG3-9-e1685.pdf

View BVdb publication page

---

Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.

Genes

van den Heuvel, Lieke M LM; Jansen, Samara M A SMA; Alsters, Suzanne I M SIM; Post, Marco C MC; van der Smagt, Jasper J JJ; Handoko-De Man, Frances S FS; van Tintelen, J Peter JP; Gille, Hans H; Christiaans, Imke I; Vonk Noordegraaf, Anton A; Bogaard, HarmJan H; Houweling, Arjan C AC

Publication Date: 2020-10-13

Variant appearance in text: GDF2: 451C>T

PubMed Link: 33066286

Variant Present in the following documents:

• Main text
• genes-11-01191.pdf

View BVdb publication page

---

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: GDF2: 451C>T; Arg151*

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page

---