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The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing…
Szeri F; Miko A; Navasiolava N; Kaposi A; Verschuere S; Molnar B; Li Q; Terry SF; Boraldi F; Uitto J; van de Wetering K; Martin L; Quaglino D; Vanakker OM; Tory K; Aranyi T.
Hum Mutat
(Unknown)
Published: 2022
Mutation update for the ACTN2 gene.
Ranta-Aho J; Olive M; Vandroux M; Roticiani G; Dominguez C; Johari M; Torella A; Böhm J; Turon J; Nigro V; Hackman P; Laporte J; Udd B; Savarese M.
Hum Mutat
(Unknown)
Published: 2022
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Janssen BDE; van den Boogaard MH; Lichtenbelt K; Seaby EG; Stals K; Ellard S; Newbury-Ecob R; Dixit A; Roht L; Pajusalu S; Õunap K; Firth HV; Buckley M; Wilson M; Roscioli T; Tidwell T; Mao R; Ennis S; Holwerda SJ; van Gassen K; van Jaarsveld RH.
Hum Mutat
(Unknown)
Published: 2022
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insight…
Goudal A; Karakachoff M; Lindenbaum P; Baron E; Bonnaud S; Kyndt F; Arnaud M; Minois D; Bourcereau E; Thollet A; Deleuze JF; Genin E; Wiart F; Pasquié JL; Galand V; Sacher F; Dina C; Redon R; Bezieau S; Schott JJ; Probst V; Barc J.
Hum Mutat
(Unknown)
Published: 2022
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
Tucker EJ; Gutfreund N; Belaud-Rotureau MA; Gilot D; Brun T; Kline BL; Bell KM; Domin-Bernhard M; Théard C; Touraine P; Robevska G; van van den Bergen J; Ayers KL; Sinclair AH; Dötsch V; Jaillard S.
Hum Mutat
(Unknown)
Published: 2022
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Scala M; Drouot N; MacLennan SC; Wessels MW; Krygier M; Pavinato L; Telegrafi A; de Man SA; van Slegtenhorst M; Iacomino M; Madia F; Scudieri P; Uva P; Giacomini T; Nobile G; Mancardi MM; Balagura G; Galloni GB; Verrotti A; Umair M; Khan A; Liebelt J; Schmidts M; Langer T; Brusco A; Lipska-Ziętkiewicz BS; Saris JJ; Charlet-Berguerand N; Zara F; Striano P; Piton A.
Hum Mutat
(Unknown)
Published: 2022
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression i…
Wai HA; Constable M; Drewes C; Davies IC; Svobodova E; Dempsey E; Saggar A; Homfray T; Mansour S; Douzgou S; Barr K; Mercer C; Hunt D; Douglas AGL; Baralle D.
Hum Mutat
(Unknown)
Published: 2022
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L; Cavalcante de Andrade Silva M; Petras K; Arndt K; Phillips N; Wanjari P; Subramanian HP; Montes D; McElherne J; Theissen M; Briese R; Das S; Godley LA; Segal J; Del Gaudio D; Fitzpatrick C; Churpek JE.
Hum Mutat
(Unknown)
Published: 2022
Re-evaluation of missense variant classifications in NF2.
Sadler KV; Rowlands CF; Smith PT; Hartley CL; Bowers NL; Roberts NY; Harris JL; Wallace AJ; Evans DG; Messiaen LM; Smith MJ.
Hum Mutat
(Unknown)
Published: 2022
Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond.
Rambla J; Baudis M; Ariosa R; Beck T; Fromont LA; Navarro A; Paloots R; Rueda M; Saunders G; Singh B; Spalding JD; Törnroos J; Vasallo C; Veal CD; Brookes AJ.
Hum Mutat
(Unknown)
Published: 2022
Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Rodrigues EDS; Griffith S; Martin R; Antonescu C; Posey JE; Coban-Akdemir Z; Jhangiani SN; Doheny KF; Lupski JR; Valle D; Bamshad MJ; Hamosh A; Sheffer A; Chong JX; Einhorn Y; Cupak M; Sobreira N.
Hum Mutat
(Unknown)
Published: 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epilep…
Scala M; Wortmann SB; Kaya N; Stellingwerff MD; Pistorio A; Glamuzina E; van Karnebeek CD; Skrypnyk C; Iwanicka-Pronicka K; Piekutowska-Abramczuk D; Ciara E; Tort F; Sheidley B; Poduri A; Jayakar P; Jayakar A; Upadia J; Walano N; Haack TB; Prokisch H; Aldhalaan H; Karimiani EG; Yildiz Y; Ceylan AC; Santiago-Sim T; Dameron A; Yang H; Toosi MB; Ashrafzadeh F; Akhondian J; Imannezhad S; Mirzadeh HS; Maqbool S; Farid A; Al-Muhaizea MA; Alshwameen MO; Aldowsari L; Alsagob M; Alyousef A; AlMass R; AlHargan A; Alwadei AH; AlRasheed MM; Colak D; Alqudairy H; Khan S; Lines MA; García Cazorla MÁ; Ribes A; Morava E; Bibi F; Haider S; Ferla MP; Taylor JC; Alsaif HS; Firdous A; Hashem M; Shashkin C; Koneev K; Kaiyrzhanov R; Efthymiou S; Genomics QS; Schmitt-Mechelke T; Ziegler A; Issa MY; Elbendary HM; Striano P; Alkuraya FS; Zaki MS; Gleeson JG; Barakat TS; Bierau J; van der Knaap MS; Maroofian R; Houlden H.
Hum Mutat
(Unknown)
Published: 2022