Research Explorer

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Project

Study of the molecular background and pathophysiology of monogenic disorders with structural cardiovasuclar anomalies

Outputs and Outcomes

Publications

Beyond gene-disease validity : capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Katherine S. JosephsAngharad M. RobertsPantazis TheotokisRoddy WalshPhilip J. OstrowskiMatthew EdwardsAndrew FlemingCourtney ThaxtonJason D. RobertsMelanie CareWojciech ZarebaArnon AdlerAmy C. SturmRafik TadrosValeria NovelliEmma OwensLucas BronickiOlga JarinovaBert CallewaertStacey PetersTom LumbersElizabeth JordanBabken AsatryanNeesha KrishnanRay E. HershbergerC. Anwar A. ChahalAndrew P. LandstromCynthia JamesElizabeth M. McnallyDaniel P. JudgePeter van TintelenArthur WildeMichael GollobJodie InglesJames S. Ware et al.

A1 Journal Article in GENOME MEDICINE

Jansen-de Vries syndrome : expansion of the PPM1D clinical and phenotypic spectrum in 34 families

Monica H. WojcikSiddharth SrivastavaPankaj B. AgrawalTugce B. BalciBert CallewaertPier Luigi CalvoDiana CarliMichelle CaudleSamantha ColaiacovoLaura CrossKalliope DemetriouKaty DrazbaMarina Dutra-ClarkeMatthew EdwardsCasie A. GenettiDorothy K. GrangeScott E. HickeyBertrand IsidorSebastien KueryHerbert M. LachmanAlinoe LavillaureixMichael J. LyonsCarlo MarcelisElysa J. MarcoJulian A. Martinez-AgostoCatherine NowakAntonio PizzolMarc PlanesEloise J. PrijolesEvelise RiberiEric T. RushBianca E. RussellRani SachdevBetsy SchmalzDeborah ShearsDavid A. StevensonKate WilsonSandra JansenBert B. A. de VriesCynthia J. Curry et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA

Ilse MeerschautWouter SteyaertThierry BovéKatrien FrancoisThomas MartensKatya De GrooteHans De WildeLaura Muiño MosqueraJoseph PanzerKristof VandekerckhoveLara MoonsPetra VermassenSofie SymoensPaul CouckeDaniël De WolfBert Callewaert et al.

A1 Journal Article in GENES

LTBP1 promotes fibrillin incorporation into the extracellular matrix

Matthias PrzyklenkVeronika S. GeorgievaFabian MetzenSebastian MostertBirgit KobbeBert CallewaertGerhard SengleBent BrachvogelRobert P. MechamMats PaulssonRaimund WagenerManuel KochAlvise Schiavinato et al.

A1 Journal Article in MATRIX BIOLOGY