document.write("<div class='record'>");
document.write("  <div class='authors'>Asif,\&nbsp;M.*\&nbsp;; Khayyat,\&nbsp;A.I.A.*\&nbsp;; Alawbathani,\&nbsp;S.*\&nbsp;; Abdullah,\&nbsp;U.*\&nbsp;; Sanner,\&nbsp;A.*\&nbsp;; Georgomanolis,\&nbsp;T.*\&nbsp;; Haasters,\&nbsp;J.*\&nbsp;; Becker,\&nbsp;K.*\&nbsp;; Budde,\&nbsp;B.*\&nbsp;; Becker,\&nbsp;C.*\&nbsp;; Thiele,\&nbsp;H.*\&nbsp;; Baig,\&nbsp;S.M.*\&nbsp;; Isidoro-García,\&nbsp;M.*\&nbsp;; Winter,\&nbsp;D.*\&nbsp;; Pogoda,\&nbsp;H.M.*\&nbsp;; Muhammad,\&nbsp;S.*\&nbsp;; Hammerschmidt,\&nbsp;M.*\&nbsp;; Kraft,\&nbsp;F.*\&nbsp;; Kurth,\&nbsp;I.*\&nbsp;; Martin,\&nbsp;H.G.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Nürnberg,\&nbsp;P.*\&nbsp;; Hussain,\&nbsp;M.S.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=70531&la=de'>Biallelic loss-of-function variants of \<em\>ZFTRAF1\</em\> cause neurodevelopmental disorder with microcephaly and hypotonia.</a></div>");
document.write("  <div class='source'>Genet. Med. 26:101143 (2024)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Ebstein,\&nbsp;F.*\&nbsp;; Latypova,\&nbsp;X.*\&nbsp;; Hung,\&nbsp;K.Y.S.*\&nbsp;; Prado,\&nbsp;M.A.*\&nbsp;; Lee,\&nbsp;B.H.*\&nbsp;; Möller,\&nbsp;S.*\&nbsp;; Wendlandt,\&nbsp;M.*\&nbsp;; Zieba,\&nbsp;B.A.*\&nbsp;; Florenceau,\&nbsp;L.*\&nbsp;; Vignard,\&nbsp;V.*\&nbsp;; Poirier,\&nbsp;L.*\&nbsp;; Toutain,\&nbsp;B.*\&nbsp;; Moroni,\&nbsp;I.*\&nbsp;; Dubucs,\&nbsp;C.*\&nbsp;; Chassaing,\&nbsp;N.*\&nbsp;; Horvath,\&nbsp;J.*\&nbsp;; Prokisch,\&nbsp;H.\&nbsp;; Küry,\&nbsp;S.*\&nbsp;; Bézieau,\&nbsp;S.*\&nbsp;; Paulo,\&nbsp;J.A.*\&nbsp;; Finley,\&nbsp;D.*\&nbsp;; Krüger,\&nbsp;E.*\&nbsp;; Ghezzi,\&nbsp;D.*\&nbsp;; Isidor,\&nbsp;B.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=70263&la=de'>Biallelic \<em\>USP14\</em\> variants cause a syndromic neurodevelopmental disorder.</a></div>");
document.write("  <div class='source'>Genet. Med. 26:101120 (2024)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Averdunk,\&nbsp;L.*\&nbsp;; Huetzen,\&nbsp;M.A.*\&nbsp;; Moreno-Andrés,\&nbsp;D.*\&nbsp;; Kalb,\&nbsp;R.*\&nbsp;; McKee,\&nbsp;S.*\&nbsp;; Hsieh,\&nbsp;T.C.*\&nbsp;; Seibt,\&nbsp;A.*\&nbsp;; Schouwink,\&nbsp;M.*\&nbsp;; Lalani,\&nbsp;S.*\&nbsp;; Faqeih,\&nbsp;E.A.*\&nbsp;; Brunet,\&nbsp;T.\&nbsp;; Boor,\&nbsp;P.*\&nbsp;; Neveling,\&nbsp;K.*\&nbsp;; Hoischen,\&nbsp;A.*\&nbsp;; Hildebrandt,\&nbsp;B.*\&nbsp;; Graf,\&nbsp;E.*\&nbsp;; Lu,\&nbsp;L.*\&nbsp;; Jin,\&nbsp;W.*\&nbsp;; Schaper,\&nbsp;J.*\&nbsp;; Omer,\&nbsp;J.A.*\&nbsp;; Demaret,\&nbsp;T.*\&nbsp;; Fleischer,\&nbsp;N.*\&nbsp;; Schindler,\&nbsp;D.*\&nbsp;; Krawitz,\&nbsp;P.*\&nbsp;; Mayatepek,\&nbsp;E.*\&nbsp;; Wieczorek,\&nbsp;D.*\&nbsp;; Wang,\&nbsp;L.L.*\&nbsp;; Antonin,\&nbsp;W.*\&nbsp;; Jachimowicz,\&nbsp;R.D.*\&nbsp;; von Felbert,\&nbsp;V.*\&nbsp;; Distelmaier,\&nbsp;F.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67630&la=de'>Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.</a></div>");
document.write("  <div class='source'>Genet. Med. 25:100836 (2023)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Brunet,\&nbsp;T.*\&nbsp;; Zott,\&nbsp;B.*\&nbsp;; Lieftüchter,\&nbsp;V.*\&nbsp;; Lenz,\&nbsp;D.*\&nbsp;; Schmidt,\&nbsp;A.*\&nbsp;; Peters,\&nbsp;P.*\&nbsp;; Kopajtich,\&nbsp;R.\&nbsp;; Zaddach,\&nbsp;M.*\&nbsp;; Zimmermann,\&nbsp;H.*\&nbsp;; Hüning,\&nbsp;I.*\&nbsp;; Ballhausen,\&nbsp;D.*\&nbsp;; Staufner,\&nbsp;C.*\&nbsp;; Bianzano,\&nbsp;A.*\&nbsp;; Hughes,\&nbsp;J.*\&nbsp;; Taylor,\&nbsp;R.W.*\&nbsp;; McFarland,\&nbsp;R.*\&nbsp;; Devlin,\&nbsp;A.*\&nbsp;; Mihaljevic,\&nbsp;M.*\&nbsp;; Barišić,\&nbsp;N.*\&nbsp;; Rohlfs,\&nbsp;M.*\&nbsp;; Wilfling,\&nbsp;S.*\&nbsp;; Sondheimer,\&nbsp;N.*\&nbsp;; Hewson,\&nbsp;S.*\&nbsp;; Marinakis,\&nbsp;N.M.*\&nbsp;; Kosma,\&nbsp;K.*\&nbsp;; Traeger-Synodinos,\&nbsp;J.*\&nbsp;; Elbracht,\&nbsp;M.*\&nbsp;; Begemann,\&nbsp;M.*\&nbsp;; Trepels-Kottek,\&nbsp;S.*\&nbsp;; Hasan,\&nbsp;D.*\&nbsp;; Scala,\&nbsp;M.*\&nbsp;; Capra,\&nbsp;V.*\&nbsp;; Zara,\&nbsp;F.*\&nbsp;; van der Ven,\&nbsp;A.T.*\&nbsp;; Driemeyer,\&nbsp;J.*\&nbsp;; Apitz,\&nbsp;C.*\&nbsp;; Kramer,\&nbsp;J.*\&nbsp;; Strong,\&nbsp;A.*\&nbsp;; Hakonarson,\&nbsp;H.*\&nbsp;; Watson,\&nbsp;D.*\&nbsp;; Mayr,\&nbsp;J.A.*\&nbsp;; Prokisch,\&nbsp;H.\&nbsp;; Meitinger,\&nbsp;T.*\&nbsp;; Borggraefe,\&nbsp;I.*\&nbsp;; Spiegler,\&nbsp;J.*\&nbsp;; Baric,\&nbsp;I.*\&nbsp;; Paolini,\&nbsp;M.*\&nbsp;; Gerstl,\&nbsp;L.*\&nbsp;; Wagner,\&nbsp;M.</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68725&la=de'>De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.</a></div>");
document.write("  <div class='source'>Genet. Med. 26:101013 (2023)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Friedrich,\&nbsp;U.A.\&nbsp;; Bienias,\&nbsp;M.*\&nbsp;; Zinke,\&nbsp;C.*\&nbsp;; Prazenicova,\&nbsp;M.*\&nbsp;; Lohse,\&nbsp;J.*\&nbsp;; Jahn,\&nbsp;A.*\&nbsp;; Menzel,\&nbsp;M.*\&nbsp;; Langanke,\&nbsp;J.*\&nbsp;; Walter,\&nbsp;C.*\&nbsp;; Wagener,\&nbsp;R.*\&nbsp;; Brozou,\&nbsp;T.*\&nbsp;; Varghese,\&nbsp;J.*\&nbsp;; Dugas,\&nbsp;M.*\&nbsp;; Erlacher,\&nbsp;M.*\&nbsp;; Schrock,\&nbsp;E.*\&nbsp;; Suttorp,\&nbsp;M.*\&nbsp;; Borkhardt,\&nbsp;A.*\&nbsp;; Hauer,\&nbsp;J.*\&nbsp;; Auer,\&nbsp;F.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67768&la=de'>A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children.</a></div>");
document.write("  <div class='source'>Genet. Med. 25:100875 (2023)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Maroofian,\&nbsp;R.*\&nbsp;; Zamani,\&nbsp;M.*\&nbsp;; Kaiyrzhanov,\&nbsp;R.*\&nbsp;; Liebmann,\&nbsp;L.*\&nbsp;; Ghayoor Karimiani,\&nbsp;E.*\&nbsp;; Vona,\&nbsp;B.*\&nbsp;; Huebner,\&nbsp;A.K.*\&nbsp;; Calame,\&nbsp;D.G.*\&nbsp;; Misra,\&nbsp;V.K.*\&nbsp;; Sadeghian,\&nbsp;S.*\&nbsp;; Azizimalamiri,\&nbsp;R.*\&nbsp;; Mohammadi,\&nbsp;M.H.*\&nbsp;; Zeighami,\&nbsp;J.*\&nbsp;; Heydaran,\&nbsp;S.*\&nbsp;; Beiraghi Toosi,\&nbsp;M.*\&nbsp;; Akhondian,\&nbsp;J.*\&nbsp;; Babaei,\&nbsp;M.*\&nbsp;; Hashemi,\&nbsp;N.*\&nbsp;; Schnur,\&nbsp;R.E.*\&nbsp;; Suri,\&nbsp;M.*\&nbsp;; Setzke,\&nbsp;J.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Brunet,\&nbsp;T.\&nbsp;; Grochowski,\&nbsp;C.M.*\&nbsp;; Emrick,\&nbsp;L.*\&nbsp;; Chung,\&nbsp;W.K.*\&nbsp;; Hellmich,\&nbsp;U.A.*\&nbsp;; Schmidts,\&nbsp;M.*\&nbsp;; Lupski,\&nbsp;J.R.*\&nbsp;; Galehdari,\&nbsp;H.*\&nbsp;; Severino,\&nbsp;M.*\&nbsp;; Houlden,\&nbsp;H.*\&nbsp;; Hübner,\&nbsp;C.A.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68948&la=de'>Biallelic variants in \<em\>SLC4A10\</em\> encoding the sodium-dependent chloride-bicarbonate exchanger NCBE lead to a neurodevelopmental disorder.</a></div>");
document.write("  <div class='source'>Genet. Med. 26:101034 (2023)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Park,\&nbsp;J.*\&nbsp;; Tucci,\&nbsp;A.*\&nbsp;; Cipriani,\&nbsp;V.*\&nbsp;; Demidov,\&nbsp;G.*\&nbsp;; Rocca,\&nbsp;C.*\&nbsp;; Senderek,\&nbsp;J.*\&nbsp;; Butryn,\&nbsp;M.*\&nbsp;; Velic,\&nbsp;A.*\&nbsp;; Lam,\&nbsp;T.*\&nbsp;; Galanaki,\&nbsp;E.*\&nbsp;; Cali,\&nbsp;E.*\&nbsp;; Vestito,\&nbsp;L.*\&nbsp;; Maroofian,\&nbsp;R.*\&nbsp;; Deininger,\&nbsp;N.*\&nbsp;; Rautenberg,\&nbsp;M.*\&nbsp;; Admard,\&nbsp;J.*\&nbsp;; Hahn,\&nbsp;G.A.*\&nbsp;; Bartels,\&nbsp;C.*\&nbsp;; van Os,\&nbsp;N.J.H.*\&nbsp;; Horvath,\&nbsp;R.*\&nbsp;; Chinnery,\&nbsp;P.F.*\&nbsp;; Tiet,\&nbsp;M.Y.*\&nbsp;; Hewamadduma,\&nbsp;C.*\&nbsp;; Hadjivassiliou,\&nbsp;M.*\&nbsp;; Downes,\&nbsp;S.M.*\&nbsp;; Németh,\&nbsp;A.H.*\&nbsp;; Tofaris,\&nbsp;G.K.*\&nbsp;; Wood,\&nbsp;N.W.*\&nbsp;; Hayer,\&nbsp;S.N.*\&nbsp;; Bender,\&nbsp;F.*\&nbsp;; Menden,\&nbsp;B.*\&nbsp;; Cordts,\&nbsp;I.*\&nbsp;; Klein,\&nbsp;K.*\&nbsp;; Nguyen,\&nbsp;H.P.*\&nbsp;; Krauss,\&nbsp;J.K.*\&nbsp;; Blahak,\&nbsp;C.*\&nbsp;; Strom,\&nbsp;T.M.\&nbsp;; Sturm,\&nbsp;M.*\&nbsp;; van de Warrenburg,\&nbsp;B.*\&nbsp;; Lerche,\&nbsp;H.*\&nbsp;; Macek,\&nbsp;B.*\&nbsp;; Synofzik,\&nbsp;M.*\&nbsp;; Ossowski,\&nbsp;S.*\&nbsp;; Timmann,\&nbsp;D.*\&nbsp;; Wolf,\&nbsp;M.E.*\&nbsp;; Smedley,\&nbsp;D.*\&nbsp;; Riess,\&nbsp;O.*\&nbsp;; Schöls,\&nbsp;L.*\&nbsp;; Houlden,\&nbsp;H.*\&nbsp;; Haack,\&nbsp;T.*\&nbsp;; Hengel,\&nbsp;H.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68309&la=de'>Erratum: Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy (Genetics in Medicine (2022) 24(10) (2079–2090), (S1098360022008437), (10.1016/j.gim.2022.07.006)).</a></div>");
document.write("  <div class='source'>Genet. Med. 25:100961 (2023)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Poggio,\&nbsp;E.*\&nbsp;; Barazzuol,\&nbsp;L.*\&nbsp;; Salmaso,\&nbsp;A.*\&nbsp;; Milani,\&nbsp;C.*\&nbsp;; Deligiannopoulou,\&nbsp;A.*\&nbsp;; Cazorla,\&nbsp;Á.G.*\&nbsp;; Jang,\&nbsp;S.S.*\&nbsp;; Juliá-Palacios,\&nbsp;N.*\&nbsp;; Keren,\&nbsp;B.*\&nbsp;; Kopajtich,\&nbsp;R.\&nbsp;; Lynch,\&nbsp;S.A.*\&nbsp;; Mignot,\&nbsp;C.*\&nbsp;; Moorwood,\&nbsp;C.*\&nbsp;; Neuhofer,\&nbsp;C.\&nbsp;; Nigro,\&nbsp;V.*\&nbsp;; Oostra,\&nbsp;A.*\&nbsp;; Prokisch,\&nbsp;H.\&nbsp;; Saillour,\&nbsp;V.*\&nbsp;; Schuermans,\&nbsp;N.*\&nbsp;; Torella,\&nbsp;A.*\&nbsp;; Verloo,\&nbsp;P.*\&nbsp;; Yazbeck,\&nbsp;E.*\&nbsp;; Zollino,\&nbsp;M.*\&nbsp;; Jech,\&nbsp;R.*\&nbsp;; Winkelmann,\&nbsp;J.\&nbsp;; Necpál,\&nbsp;J.*\&nbsp;; Calì,\&nbsp;T.*\&nbsp;; Brini,\&nbsp;M.*\&nbsp;; Zech,\&nbsp;M.</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68178&la=de'>ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.</a></div>");
document.write("  <div class='source'>Genet. Med. 25:100971 (2023)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Holtz,\&nbsp;A.M.*\&nbsp;; Vancoil,\&nbsp;R.*\&nbsp;; Vansickle,\&nbsp;E.A.*\&nbsp;; Carere,\&nbsp;D.A.*\&nbsp;; Withrow,\&nbsp;K.*\&nbsp;; Torti,\&nbsp;E.*\&nbsp;; Juusola,\&nbsp;J.*\&nbsp;; Millan,\&nbsp;F.*\&nbsp;; Person,\&nbsp;R.*\&nbsp;; Guillen Sacoto,\&nbsp;M.J.*\&nbsp;; Si,\&nbsp;Y.*\&nbsp;; Wentzensen,\&nbsp;I.M.*\&nbsp;; Pugh,\&nbsp;J.*\&nbsp;; Vasileiou,\&nbsp;G.*\&nbsp;; Rieger,\&nbsp;M.*\&nbsp;; Reis,\&nbsp;A.*\&nbsp;; Argilli,\&nbsp;E.*\&nbsp;; Sherr,\&nbsp;E.H.*\&nbsp;; Aldinger,\&nbsp;K.A.*\&nbsp;; Dobyns,\&nbsp;W.B.*\&nbsp;; Brunet,\&nbsp;T.\&nbsp;; Hoefele,\&nbsp;J.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Haber,\&nbsp;B.*\&nbsp;; Kotzaeridou,\&nbsp;U.*\&nbsp;; Keren,\&nbsp;B.*\&nbsp;; Heron,\&nbsp;D.*\&nbsp;; Mignot,\&nbsp;C.*\&nbsp;; Heide,\&nbsp;S.*\&nbsp;; Courtin,\&nbsp;T.*\&nbsp;; Buratti,\&nbsp;J.*\&nbsp;; Murugasen,\&nbsp;S.*\&nbsp;; Donald,\&nbsp;K.A.*\&nbsp;; O\'Heir,\&nbsp;E.*\&nbsp;; Moody,\&nbsp;S.*\&nbsp;; Kim,\&nbsp;K.H.*\&nbsp;; Burton,\&nbsp;B.K.*\&nbsp;; Yoon,\&nbsp;G.*\&nbsp;; Campo,\&nbsp;M.d.*\&nbsp;; Masser-Frye,\&nbsp;D.*\&nbsp;; Kozenko,\&nbsp;M.*\&nbsp;; Parkinson,\&nbsp;C.*\&nbsp;; Sell,\&nbsp;S.L.*\&nbsp;; Gordon,\&nbsp;P.L.*\&nbsp;; Prokop,\&nbsp;J.W.*\&nbsp;; Karaa,\&nbsp;A.*\&nbsp;; Bupp,\&nbsp;C.*\&nbsp;; Raby,\&nbsp;B.A.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65950&la=de'>Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.</a></div>");
document.write("  <div class='source'>Genet. Med. 24, 2065-2078 (2022)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Meuwissen,\&nbsp;M.*\&nbsp;; Verstraeten,\&nbsp;A.*\&nbsp;; Ranza,\&nbsp;E.*\&nbsp;; Iwaszkiewicz,\&nbsp;J.*\&nbsp;; Bastiaansen,\&nbsp;M.*\&nbsp;; Mateiu,\&nbsp;L.*\&nbsp;; Nemegeer,\&nbsp;M.*\&nbsp;; Meester,\&nbsp;J.A.N.*\&nbsp;; Afenjar,\&nbsp;A.*\&nbsp;; Amaral,\&nbsp;M.*\&nbsp;; Ballhausen,\&nbsp;D.*\&nbsp;; Barnett,\&nbsp;S.*\&nbsp;; Barth,\&nbsp;M.*\&nbsp;; Asselbergh,\&nbsp;B.*\&nbsp;; Spaas,\&nbsp;K.*\&nbsp;; Heeman,\&nbsp;B.*\&nbsp;; Bassetti,\&nbsp;J.*\&nbsp;; Blackburn,\&nbsp;P.*\&nbsp;; Schaer,\&nbsp;M.*\&nbsp;; Blanc,\&nbsp;X.*\&nbsp;; Zoete,\&nbsp;V.*\&nbsp;; Casas,\&nbsp;K.*\&nbsp;; Courtin,\&nbsp;T.*\&nbsp;; Doummar,\&nbsp;D.*\&nbsp;; Guerry,\&nbsp;F.*\&nbsp;; Keren,\&nbsp;B.*\&nbsp;; Pappas,\&nbsp;J.*\&nbsp;; Rabin,\&nbsp;R.*\&nbsp;; Begtrup,\&nbsp;A.*\&nbsp;; Shinawi,\&nbsp;M.*\&nbsp;; Vulto-van Silfhout,\&nbsp;A.T.*\&nbsp;; Kleefstra,\&nbsp;T.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Ziegler,\&nbsp;A.*\&nbsp;; Schaefer,\&nbsp;E.*\&nbsp;; Gérard,\&nbsp;B.*\&nbsp;; De Bie,\&nbsp;C.I.*\&nbsp;; Holwerda,\&nbsp;S.J.B.*\&nbsp;; Abbot,\&nbsp;M.A.*\&nbsp;; Antonarakis,\&nbsp;S.E.*\&nbsp;; Loeys,\&nbsp;B.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64971&la=de'>Heterozygous variants in \<em\>CTR9\</em\>, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.</a></div>");
document.write("  <div class='source'>Genet. Med. 24, 1583-1591 (2022)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Oh,\&nbsp;R.Y.*\&nbsp;; Deshwar,\&nbsp;A.R.*\&nbsp;; Marwaha,\&nbsp;A.*\&nbsp;; Sabha,\&nbsp;N.*\&nbsp;; Tropak,\&nbsp;M.*\&nbsp;; Hou,\&nbsp;H.*\&nbsp;; Yuki,\&nbsp;K.E.*\&nbsp;; Wilson,\&nbsp;M.D.*\&nbsp;; Rump,\&nbsp;P.*\&nbsp;; Lunsing,\&nbsp;R.*\&nbsp;; Elserafy,\&nbsp;N.*\&nbsp;; Chung,\&nbsp;C.W.T.*\&nbsp;; Hewson,\&nbsp;S.*\&nbsp;; Klein-Rodewald,\&nbsp;T.\&nbsp;; Calzada-Wack,\&nbsp;J.\&nbsp;; Sanz-Moreno,\&nbsp;A.\&nbsp;; Kraiger,\&nbsp;M.\&nbsp;; Marschall,\&nbsp;S.\&nbsp;; Fuchs,\&nbsp;H.\&nbsp;; Gailus-Durner,\&nbsp;V.\&nbsp;; Hrabě de Angelis,\&nbsp;M.\&nbsp;; Dowling,\&nbsp;J.J.*\&nbsp;; Schulze,\&nbsp;A.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66153&la=de'>Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.</a></div>");
document.write("  <div class='source'>Genet. Med. 24, 2399-2407 (2022)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Park,\&nbsp;J.*\&nbsp;; Tucci,\&nbsp;A.*\&nbsp;; Cipriani,\&nbsp;V.*\&nbsp;; Demidov,\&nbsp;G.*\&nbsp;; Rocca,\&nbsp;C.*\&nbsp;; Senderek,\&nbsp;J.*\&nbsp;; Velic,\&nbsp;A.*\&nbsp;; Lam,\&nbsp;T.H.*\&nbsp;; Galanaki,\&nbsp;E.*\&nbsp;; Cali,\&nbsp;E.*\&nbsp;; Vestito,\&nbsp;L.*\&nbsp;; Maroofian,\&nbsp;R.*\&nbsp;; Deininger,\&nbsp;N.*\&nbsp;; Rautenberg,\&nbsp;M.*\&nbsp;; Admard,\&nbsp;J.*\&nbsp;; Hahn,\&nbsp;G.A.*\&nbsp;; Bartels,\&nbsp;C.*\&nbsp;; van Os,\&nbsp;N.J.H.*\&nbsp;; Horvath,\&nbsp;R.*\&nbsp;; Chinnery,\&nbsp;P.F.*\&nbsp;; Tiet,\&nbsp;M.Y.*\&nbsp;; Hewamadduma,\&nbsp;C.*\&nbsp;; Hadjivassiliou,\&nbsp;M.*\&nbsp;; Tofaris,\&nbsp;G.K.*\&nbsp;; Wood,\&nbsp;S.M.*\&nbsp;; Zarowiecki,\&nbsp;M.*\&nbsp;; Wood,\&nbsp;N.W.*\&nbsp;; Hayer,\&nbsp;S.N.*\&nbsp;; Krauss,\&nbsp;J.L.*\&nbsp;; Strom,\&nbsp;T.M.\&nbsp;; Sturm,\&nbsp;M.*\&nbsp;; van de Warrenburg,\&nbsp;B.P.*\&nbsp;; Lerche,\&nbsp;H.*\&nbsp;; Synofzik,\&nbsp;M.*\&nbsp;; Ossowski,\&nbsp;S.*\&nbsp;; Timmann,\&nbsp;D.*\&nbsp;; Smedley,\&nbsp;D.*\&nbsp;; Riess,\&nbsp;O.*\&nbsp;; Schöls,\&nbsp;L.*\&nbsp;; Houlden,\&nbsp;H.*\&nbsp;; Haack,\&nbsp;T.B.*\&nbsp;; Hengel,\&nbsp;H.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65945&la=de'>Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.</a></div>");
document.write("  <div class='source'>Genet. Med. 24, 2079-2090 (2022)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Vogel,\&nbsp;G.F.*\&nbsp;; Mozer-Glassberg,\&nbsp;Y.*\&nbsp;; Landau,\&nbsp;Y.E.*\&nbsp;; Schlieben,\&nbsp;L.D.\&nbsp;; Prokisch,\&nbsp;H.\&nbsp;; Feichtinger,\&nbsp;R.G.*\&nbsp;; Mayr,\&nbsp;J.A.*\&nbsp;; Brennenstuhl,\&nbsp;H.*\&nbsp;; Schröter,\&nbsp;J.*\&nbsp;; Pechlaner,\&nbsp;A.*\&nbsp;; Alkuraya,\&nbsp;F.S.*\&nbsp;; Baker,\&nbsp;J.J.*\&nbsp;; Barcia,\&nbsp;G.*\&nbsp;; Baric,\&nbsp;I.*\&nbsp;; Braverman,\&nbsp;N.*\&nbsp;; Burnyte,\&nbsp;B.*\&nbsp;; Christodoulou,\&nbsp;J.*\&nbsp;; Ciara,\&nbsp;E.*\&nbsp;; Coman,\&nbsp;D.*\&nbsp;; Das,\&nbsp;A.M.*\&nbsp;; Darin,\&nbsp;N.*\&nbsp;; Della Marina,\&nbsp;A.*\&nbsp;; Distelmaier,\&nbsp;F.*\&nbsp;; Eklund,\&nbsp;E.A.*\&nbsp;; Ersoy,\&nbsp;M.*\&nbsp;; Fang,\&nbsp;W.*\&nbsp;; Gaignard,\&nbsp;P.*\&nbsp;; Ganetzky,\&nbsp;R.D.*\&nbsp;; Gonzales,\&nbsp;E.*\&nbsp;; Howard,\&nbsp;C.R.*\&nbsp;; Hughes,\&nbsp;J.*\&nbsp;; Konstantopoulou,\&nbsp;V.*\&nbsp;; Kose,\&nbsp;M.*\&nbsp;; Kerr,\&nbsp;M.*\&nbsp;; Khan,\&nbsp;A.*\&nbsp;; Lenz,\&nbsp;D.*\&nbsp;; McFarland,\&nbsp;R.*\&nbsp;; Margolis,\&nbsp;M.G.*\&nbsp;; Morrison,\&nbsp;K.*\&nbsp;; Müller,\&nbsp;T.*\&nbsp;; Murayama,\&nbsp;K.*\&nbsp;; Nicastro,\&nbsp;E.*\&nbsp;; Pennisi,\&nbsp;A.*\&nbsp;; Peters,\&nbsp;H.*\&nbsp;; Piekutowska-Abramczuk,\&nbsp;D.*\&nbsp;; Rötig,\&nbsp;A.*\&nbsp;; Santer,\&nbsp;R.*\&nbsp;; Scaglia,\&nbsp;F.*\&nbsp;; Schiff,\&nbsp;M.*\&nbsp;; Shagrani,\&nbsp;M.*\&nbsp;; Sharrard,\&nbsp;M.*\&nbsp;; Soler-Alfonso,\&nbsp;C.*\&nbsp;; Staufner,\&nbsp;C.*\&nbsp;; Storey,\&nbsp;I.*\&nbsp;; Stormon,\&nbsp;M.*\&nbsp;; Taylor,\&nbsp;R.W.*\&nbsp;; Thorburn,\&nbsp;D.R.*\&nbsp;; Teles,\&nbsp;E.L.*\&nbsp;; Wang,\&nbsp;J.S.*\&nbsp;; Weghuber,\&nbsp;D.*\&nbsp;; Wortmann,\&nbsp;S.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66591&la=de'>Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.</a></div>");
document.write("  <div class='source'>Genet. Med. 25:100314 (2022)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Brunet,\&nbsp;T.*\&nbsp;; McWalter,\&nbsp;K.*\&nbsp;; Mayerhanser,\&nbsp;K.*\&nbsp;; Anbouba,\&nbsp;G.M.*\&nbsp;; Armstrong-Javors,\&nbsp;A.*\&nbsp;; Bader,\&nbsp;I.*\&nbsp;; Baugh,\&nbsp;E.*\&nbsp;; Begtrup,\&nbsp;A.*\&nbsp;; Bupp,\&nbsp;C.P.*\&nbsp;; Callewaert,\&nbsp;B.L.*\&nbsp;; Cereda,\&nbsp;A.*\&nbsp;; Cousin,\&nbsp;M.A.*\&nbsp;; Jimenez,\&nbsp;J.C.D.R.*\&nbsp;; Demmer,\&nbsp;L.*\&nbsp;; Dsouza,\&nbsp;N.R.*\&nbsp;; Fleischer,\&nbsp;N.*\&nbsp;; Gavrilova,\&nbsp;R.H.*\&nbsp;; Ghate,\&nbsp;S.*\&nbsp;; Graf,\&nbsp;E.\&nbsp;; Green,\&nbsp;A.*\&nbsp;; Green,\&nbsp;S.R.*\&nbsp;; Iascone,\&nbsp;M.*\&nbsp;; Kdissa,\&nbsp;A.*\&nbsp;; Klee,\&nbsp;D.*\&nbsp;; Klee,\&nbsp;E.W.*\&nbsp;; Lancaster,\&nbsp;E.*\&nbsp;; Lindström,\&nbsp;K.*\&nbsp;; Mayr,\&nbsp;J.A.*\&nbsp;; McEntagart,\&nbsp;M.*\&nbsp;; Meeks,\&nbsp;N.J.L.*\&nbsp;; Mittag,\&nbsp;D.*\&nbsp;; Moore,\&nbsp;H.*\&nbsp;; Olsen,\&nbsp;A.K.*\&nbsp;; Ortiz,\&nbsp;D.*\&nbsp;; Parsons,\&nbsp;G.*\&nbsp;; Pena,\&nbsp;L.D.M.*\&nbsp;; Person,\&nbsp;R.E.*\&nbsp;; Punj,\&nbsp;S.*\&nbsp;; Ramos-Rivera,\&nbsp;G.A.*\&nbsp;; Sacoto,\&nbsp;M.J.G.*\&nbsp;; Bradley Schaefer,\&nbsp;G.*\&nbsp;; Schnur,\&nbsp;R.E.*\&nbsp;; Scott,\&nbsp;T.M.*\&nbsp;; Scott,\&nbsp;D.A.*\&nbsp;; Serbinski,\&nbsp;C.R.*\&nbsp;; Shashi,\&nbsp;V.*\&nbsp;; Siu,\&nbsp;V.M.*\&nbsp;; Stadheim,\&nbsp;B.F.*\&nbsp;; Sullivan,\&nbsp;J.A.*\&nbsp;; Švantnerová,\&nbsp;J.*\&nbsp;; Velsher,\&nbsp;L.*\&nbsp;; Wargowski,\&nbsp;D.S.*\&nbsp;; Wentzensen,\&nbsp;I.M.*\&nbsp;; Wieczorek,\&nbsp;D.*\&nbsp;; Winkelmann,\&nbsp;J.\&nbsp;; Yap,\&nbsp;P.*\&nbsp;; Zech,\&nbsp;M.\&nbsp;; Zimmermann,\&nbsp;M.T.*\&nbsp;; Meitinger,\&nbsp;T.*\&nbsp;; Distelmaier,\&nbsp;F.*\&nbsp;; Wagner,\&nbsp;M.</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60528&la=de'>Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.</a></div>");
document.write("  <div class='source'>Genet. Med. 23, 384–395 (2021)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Dworschak,\&nbsp;G.C.*\&nbsp;; Punetha,\&nbsp;J.*\&nbsp;; Kalanithy,\&nbsp;J.C.*\&nbsp;; Mingardo,\&nbsp;E.*\&nbsp;; Erdem,\&nbsp;H.B.*\&nbsp;; Akdemir,\&nbsp;Z.C.*\&nbsp;; Karaca,\&nbsp;E.*\&nbsp;; Mitani,\&nbsp;T.*\&nbsp;; Marafi,\&nbsp;D.*\&nbsp;; Fatih,\&nbsp;J.M.*\&nbsp;; Jhangiani,\&nbsp;S.N.*\&nbsp;; Hunter,\&nbsp;J.V.*\&nbsp;; Dakal,\&nbsp;T.C.*\&nbsp;; Dhabhai,\&nbsp;B.*\&nbsp;; Dabbagh,\&nbsp;O.*\&nbsp;; Alsaif,\&nbsp;H.S.*\&nbsp;; Alkuraya,\&nbsp;F.S.*\&nbsp;; Maroofian,\&nbsp;R.*\&nbsp;; Houlden,\&nbsp;H.*\&nbsp;; Efthymiou,\&nbsp;S.*\&nbsp;; Dominik,\&nbsp;N.*\&nbsp;; Salpietro,V.*\&nbsp;; Sultan,\&nbsp;T.*\&nbsp;; Haider,\&nbsp;S.*\&nbsp;; Bibi,\&nbsp;F.*\&nbsp;; Thiele,\&nbsp;H.*\&nbsp;; Hoefele,\&nbsp;J.*\&nbsp;; Riedhammer,\&nbsp;K.M.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Guella,\&nbsp;I.*\&nbsp;; Demos,\&nbsp;M.*\&nbsp;; Keren,\&nbsp;B.*\&nbsp;; Buratti,\&nbsp;J.*\&nbsp;; Charles,\&nbsp;P.*\&nbsp;; Nava,\&nbsp;C.*\&nbsp;; Heron,\&nbsp;D.*\&nbsp;; Heide,\&nbsp;S.*\&nbsp;; Valkanas,\&nbsp;E.*\&nbsp;; Waddell,\&nbsp;L.B.*\&nbsp;; Jones,\&nbsp;K.J.*\&nbsp;; Oates,\&nbsp;E.C.*\&nbsp;; Cooper,\&nbsp;S.T.*\&nbsp;; MacArthur,\&nbsp;D.*\&nbsp;; Syrbe,\&nbsp;S.*\&nbsp;; Ziegler,\&nbsp;A.*\&nbsp;; Platzer,\&nbsp;K.*\&nbsp;; Okur,\&nbsp;V.*\&nbsp;; Chung,\&nbsp;W.K.*\&nbsp;; O\'Shea,\&nbsp;S.A.*\&nbsp;; Alcalay,\&nbsp;R.*\&nbsp;; Fahn,\&nbsp;S.*\&nbsp;; Mark,\&nbsp;P.R.*\&nbsp;; Guerrini,\&nbsp;R.*\&nbsp;; Vetro,\&nbsp;A.*\&nbsp;; Hudson,\&nbsp;B.*\&nbsp;; Schnur,\&nbsp;R.E.*\&nbsp;; Hoganson,\&nbsp;G.E.*\&nbsp;; Burton,\&nbsp;J.E.*\&nbsp;; McEntagart,\&nbsp;M.*\&nbsp;; Lindenberg,\&nbsp;T.*\&nbsp;; Yilmaz,\&nbsp;Ö.*\&nbsp;; Odermatt,\&nbsp;B.*\&nbsp;; Pehlivan,\&nbsp;D.*\&nbsp;; Posey,\&nbsp;J.E.*\&nbsp;; Lupski,\&nbsp;J.R.*\&nbsp;; Reutter,\&nbsp;H.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62218&la=de'>Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.</a></div>");
document.write("  <div class='source'>Genet. Med. 23, 1715–1725 (2021)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Klöckner,\&nbsp;C.*\&nbsp;; Sticht,\&nbsp;H.*\&nbsp;; Zacher,\&nbsp;P.*\&nbsp;; Popp,\&nbsp;B.*\&nbsp;; Babcock,\&nbsp;H.E.*\&nbsp;; Bakker,\&nbsp;D.P.*\&nbsp;; Barwick,\&nbsp;K.*\&nbsp;; Bonfert,\&nbsp;M.V.*\&nbsp;; Bönnemann,\&nbsp;C.G.*\&nbsp;; Brilstra,\&nbsp;E.H.*\&nbsp;; Chung,\&nbsp;W.K.*\&nbsp;; Clarke,\&nbsp;A.J.*\&nbsp;; Devine,\&nbsp;P.*\&nbsp;; Donkervoort,\&nbsp;S.*\&nbsp;; Fraser,\&nbsp;J.L.*\&nbsp;; Friedman,\&nbsp;J.*\&nbsp;; Gates,\&nbsp;A.*\&nbsp;; Ghoumid,\&nbsp;J.*\&nbsp;; Hobson,\&nbsp;E.*\&nbsp;; Horvath,\&nbsp;G.*\&nbsp;; Keller-Ramey,\&nbsp;J.*\&nbsp;; Keren,\&nbsp;B.*\&nbsp;; Kurian,\&nbsp;M.A.*\&nbsp;; Lee,\&nbsp;V.*\&nbsp;; Leppig,\&nbsp;K.A.*\&nbsp;; Lundgren,\&nbsp;J.*\&nbsp;; McDonald,\&nbsp;M.T.*\&nbsp;; McLaughlin,\&nbsp;H.M.*\&nbsp;; McTague,\&nbsp;A.*\&nbsp;; Mefford,\&nbsp;H.C.*\&nbsp;; Mignot,\&nbsp;C.*\&nbsp;; Mikati,\&nbsp;M.A.*\&nbsp;; Nava,\&nbsp;C.*\&nbsp;; Raymond,\&nbsp;F.L.*\&nbsp;; Sampson,\&nbsp;J.R.*\&nbsp;; Sanchis-Juan,\&nbsp;A.*\&nbsp;; Shashi,\&nbsp;V.*\&nbsp;; Shieh,\&nbsp;J.T.C.*\&nbsp;; Shinawi,\&nbsp;M.*\&nbsp;; Slavotinek,\&nbsp;A.*\&nbsp;; Stödberg,\&nbsp;T.*\&nbsp;; Stong,\&nbsp;N.*\&nbsp;; Sullivan,\&nbsp;J.A.*\&nbsp;; Taylor,\&nbsp;A.C.*\&nbsp;; Toler,\&nbsp;T.L.*\&nbsp;; van den Boogaard,\&nbsp;M.J.*\&nbsp;; van der Crabben,\&nbsp;S.N.*\&nbsp;; van Gassen,\&nbsp;K.L.I.*\&nbsp;; van Jaarsveld,\&nbsp;R.H.*\&nbsp;; Van Ziffle,\&nbsp;J.*\&nbsp;; Wadley,\&nbsp;A.F.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Wigby,\&nbsp;K.*\&nbsp;; Wortmann,\&nbsp;S.B.*\&nbsp;; Zarate,\&nbsp;Y.A.*\&nbsp;; Møller,\&nbsp;R.S.*\&nbsp;; Lemke,\&nbsp;J.R.*\&nbsp;; Platzer,\&nbsp;K.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61433&la=de'>Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.</a></div>");
document.write("  <div class='source'>Genet. Med. 23:796 (2021)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Tremblay-Laganière,\&nbsp;C.*\&nbsp;; Maroofian,\&nbsp;R.*\&nbsp;; Nguyen,\&nbsp;T.T.M.*\&nbsp;; Karimiani,\&nbsp;E.G.*\&nbsp;; Kirmani,\&nbsp;S.*\&nbsp;; Akbar,\&nbsp;F.*\&nbsp;; Ibrahim,\&nbsp;S.*\&nbsp;; Afroze,\&nbsp;B.*\&nbsp;; Doosti,\&nbsp;M.*\&nbsp;; Ashrafzadeh,\&nbsp;F.*\&nbsp;; Babaei,\&nbsp;M.*\&nbsp;; Efthymiou,\&nbsp;S.*\&nbsp;; Christoforou,\&nbsp;M.*\&nbsp;; Sultan,\&nbsp;T.*\&nbsp;; Ladda,\&nbsp;R.L.*\&nbsp;; McLaughlin,\&nbsp;H.M.*\&nbsp;; Truty,\&nbsp;R.*\&nbsp;; Mahida,\&nbsp;S.*\&nbsp;; Cohen,\&nbsp;J.S.*\&nbsp;; Baranano,\&nbsp;K.*\&nbsp;; Ismail,\&nbsp;F.Y.*\&nbsp;; Patel,\&nbsp;M.S.*\&nbsp;; Lehman,\&nbsp;A.*\&nbsp;; Edmondson,\&nbsp;A.C.*\&nbsp;; Nagy,\&nbsp;A.*\&nbsp;; Walker,\&nbsp;M.A.*\&nbsp;; Mercimek-Andrews,\&nbsp;S.*\&nbsp;; Maki,\&nbsp;Y.*\&nbsp;; Sachdev,\&nbsp;R.*\&nbsp;; Macintosh,\&nbsp;R.*\&nbsp;; Palmer,\&nbsp;E.E.*\&nbsp;; Mancini,\&nbsp;G.M.S.*\&nbsp;; Barakat,\&nbsp;T.S.*\&nbsp;; Steinfeld,\&nbsp;R.*\&nbsp;; Rüsch,\&nbsp;C.T.*\&nbsp;; Stettner,\&nbsp;G.M.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Wortmann,\&nbsp;S.B.*\&nbsp;; Kini,\&nbsp;U.*\&nbsp;; Brady,\&nbsp;A.F.*\&nbsp;; Stals,\&nbsp;K.L.*\&nbsp;; Ismayilova,\&nbsp;N.*\&nbsp;; Ellard,\&nbsp;S.*\&nbsp;; Bernardo,\&nbsp;D.*\&nbsp;; Nugent,\&nbsp;K.*\&nbsp;; McLean,\&nbsp;S.D.*\&nbsp;; Antonarakis,\&nbsp;S.E.*\&nbsp;; Houlden,\&nbsp;H.*\&nbsp;; Kinoshita,\&nbsp;T.*\&nbsp;; Campeau,\&nbsp;P.M.*\&nbsp;; Murakami,\&nbsp;Y.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62258&la=de'>PIGG variant pathogenicity assessment reveals characteristic features within 19 families.</a></div>");
document.write("  <div class='source'>Genet. Med. 23, 1873-1881 (2021)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Wortmann,\&nbsp;S.B.*\&nbsp;; Zietkiewicz,\&nbsp;S.*\&nbsp;; Guerrero-Castillo,\&nbsp;S.*\&nbsp;; Feichtinger,\&nbsp;R.G.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Russell,\&nbsp;J.*\&nbsp;; Ellaway,\&nbsp;C.*\&nbsp;; Mróz,\&nbsp;D.*\&nbsp;; Wyszkowski,\&nbsp;H.*\&nbsp;; Weis,\&nbsp;D.*\&nbsp;; Hannibal,\&nbsp;I.*\&nbsp;; von Stülpnagel,\&nbsp;C.*\&nbsp;; Cabrera-Orefice,\&nbsp;A.*\&nbsp;; Lichter-Konecki,\&nbsp;U.*\&nbsp;; Gaesser,\&nbsp;J.*\&nbsp;; Windreich,\&nbsp;R.*\&nbsp;; Myers,\&nbsp;K.C.*\&nbsp;; Lorsbach,\&nbsp;R.*\&nbsp;; Dale,\&nbsp;R.C.*\&nbsp;; Gersting,\&nbsp;S.*\&nbsp;; Prada,\&nbsp;C.E.*\&nbsp;; Christodoulou,\&nbsp;J.*\&nbsp;; Wolf,\&nbsp;N.I.*\&nbsp;; Venselaar,\&nbsp;H.*\&nbsp;; Mayr,\&nbsp;J.A.*\&nbsp;; Wevers,\&nbsp;R.A.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62326&la=de'>Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.</a></div>");
document.write("  <div class='source'>Genet. Med. 23, 1705-1714 (2021)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Wortmann,\&nbsp;S.B.*\&nbsp;; Zietkiewicz,\&nbsp;S.*\&nbsp;; Guerrero-Castillo,\&nbsp;S.*\&nbsp;; Feichtinger,\&nbsp;R.G.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Russell,\&nbsp;J.*\&nbsp;; Ellaway,\&nbsp;C.*\&nbsp;; Mróz,\&nbsp;D.*\&nbsp;; Wyszkowski,\&nbsp;H.*\&nbsp;; Weis,\&nbsp;D.*\&nbsp;; Hannibal,\&nbsp;I.*\&nbsp;; von Stülpnagel,\&nbsp;C.*\&nbsp;; Cabrera-Orefice,\&nbsp;A.*\&nbsp;; Lichter-Konecki,\&nbsp;U.*\&nbsp;; Gaesser,\&nbsp;J.*\&nbsp;; Windreich,\&nbsp;R.*\&nbsp;; Myers,\&nbsp;K.C.*\&nbsp;; Lorsbach,\&nbsp;R.*\&nbsp;; Dale,\&nbsp;R.C.*\&nbsp;; Gersting,\&nbsp;S.*\&nbsp;; Prada,\&nbsp;C.E.*\&nbsp;; Christodoulou,\&nbsp;J.*\&nbsp;; Wolf,\&nbsp;N.I.*\&nbsp;; Venselaar,\&nbsp;H.*\&nbsp;; Mayr,\&nbsp;J.A.*\&nbsp;; Wevers,\&nbsp;R.A.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62638&la=de'>Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.</a></div>");
document.write("  <div class='source'>Genet. Med., DOI: 10.1038/s41436-021-01280-0 (2021)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Baertling,\&nbsp;F.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Brunet,\&nbsp;T.*\&nbsp;; Sabir,\&nbsp;H.*\&nbsp;; Wieczorek,\&nbsp;D.*\&nbsp;; Meitinger,\&nbsp;T.\&nbsp;; Meissner,\&nbsp;T.*\&nbsp;; Distelmaier,\&nbsp;F.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57174&la=de'>Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia.</a></div>");
document.write("  <div class='source'>Genet. Med. 22, 654-655 (2020)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Klöckner,\&nbsp;C.*\&nbsp;; Sticht,\&nbsp;H.*\&nbsp;; Zacher,\&nbsp;P.*\&nbsp;; Popp,\&nbsp;B.*\&nbsp;; Babcock,\&nbsp;H.E.*\&nbsp;; Bakker,\&nbsp;D.P.*\&nbsp;; Barwick,\&nbsp;K.*\&nbsp;; Bonfert,\&nbsp;M.V.*\&nbsp;; Bönnemann,\&nbsp;C.G.*\&nbsp;; Brilstra,\&nbsp;E.H.*\&nbsp;; Chung,\&nbsp;W.K.*\&nbsp;; Clarke,\&nbsp;A.J.*\&nbsp;; Devine,\&nbsp;P.*\&nbsp;; Donkervoort,\&nbsp;S.*\&nbsp;; Fraser,\&nbsp;J.L.*\&nbsp;; Friedman,\&nbsp;J.*\&nbsp;; Gates,\&nbsp;A.*\&nbsp;; Ghoumid,\&nbsp;J.*\&nbsp;; Hobson,\&nbsp;E.*\&nbsp;; Horvath,\&nbsp;G.*\&nbsp;; Keller-Ramey,\&nbsp;J.*\&nbsp;; Keren,\&nbsp;B.*\&nbsp;; Kurian,\&nbsp;M.A.*\&nbsp;; Lee,\&nbsp;V.*\&nbsp;; Leppig,\&nbsp;K.A.*\&nbsp;; Lundgren,\&nbsp;J.*\&nbsp;; McDonald,\&nbsp;M.T.*\&nbsp;; McTague,\&nbsp;A.*\&nbsp;; Mefford,\&nbsp;H.C.*\&nbsp;; Mignot,\&nbsp;C.*\&nbsp;; Mikati,\&nbsp;M.A.*\&nbsp;; Nava,\&nbsp;C.*\&nbsp;; Raymond,\&nbsp;F.L.*\&nbsp;; Sampson,\&nbsp;J.R.*\&nbsp;; Sanchis-Juan,\&nbsp;A.*\&nbsp;; Shashi,\&nbsp;V.*\&nbsp;; Shieh,\&nbsp;J.T.C.*\&nbsp;; Shinawi,\&nbsp;M.*\&nbsp;; Slavotinek,\&nbsp;A.*\&nbsp;; Stödberg,\&nbsp;T.*\&nbsp;; Stong,\&nbsp;N.*\&nbsp;; Sullivan,\&nbsp;J.A.*\&nbsp;; Taylor,\&nbsp;A.C.*\&nbsp;; Toler,\&nbsp;T.L.*\&nbsp;; van den Boogaard,\&nbsp;M.J.*\&nbsp;; van der Crabben,\&nbsp;S.N.*\&nbsp;; van Gassen,\&nbsp;K.L.I.*\&nbsp;; van Jaarsveld,\&nbsp;R.H.*\&nbsp;; Van Ziffle,\&nbsp;J.*\&nbsp;; Wadley,\&nbsp;A.F.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Wigby,\&nbsp;K.*\&nbsp;; Wortmann,\&nbsp;S.B.*\&nbsp;; Zarate,\&nbsp;Y.A.*\&nbsp;; Møller,\&nbsp;R.S.*\&nbsp;; Lemke,\&nbsp;J.R.*\&nbsp;; Platzer,\&nbsp;K.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60808&la=de'>De novo variants in \<em\>SNAP25\</em\> cause an early-onset developmental and epileptic encephalopathy.</a></div>");
document.write("  <div class='source'>Genet. Med., DOI: 10.1038/s41436-020-01020-w (2020)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Lenz,\&nbsp;D.*\&nbsp;; Smith,\&nbsp;D.E.C.*\&nbsp;; Crushell,\&nbsp;E.*\&nbsp;; Husain,\&nbsp;R.A.*\&nbsp;; Salomons,\&nbsp;G.S.*\&nbsp;; Alhaddad,\&nbsp;B.*\&nbsp;; Bernstein,\&nbsp;J.A.*\&nbsp;; Bianzano,\&nbsp;A.*\&nbsp;; Biskup,\&nbsp;S.*\&nbsp;; Brennenstuhl,\&nbsp;H.*\&nbsp;; Caldari,\&nbsp;D.*\&nbsp;; Dikow,\&nbsp;N.*\&nbsp;; Haack,\&nbsp;T.B.*\&nbsp;; Hanson-Kahn,\&nbsp;A.*\&nbsp;; Harting,\&nbsp;I.*\&nbsp;; Horn,\&nbsp;D.*\&nbsp;; Hughes,\&nbsp;J.*\&nbsp;; Huijberts,\&nbsp;M.*\&nbsp;; Isidor,\&nbsp;B.*\&nbsp;; Kathemann,\&nbsp;S.*\&nbsp;; Kopajtich,\&nbsp;R.\&nbsp;; Kotzaeridou,\&nbsp;U.*\&nbsp;; Küry,\&nbsp;S.*\&nbsp;; Lainka,\&nbsp;E.*\&nbsp;; Laugwitz,\&nbsp;L.*\&nbsp;; Lupski,\&nbsp;J.R.*\&nbsp;; Posey,\&nbsp;J.E.*\&nbsp;; Reynolds,\&nbsp;C.*\&nbsp;; Rosenfeld,\&nbsp;J.A.*\&nbsp;; Schröter,\&nbsp;J.*\&nbsp;; Vansenne,\&nbsp;F.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Weiß,\&nbsp;C.*\&nbsp;; Wolffenbuttel,\&nbsp;B.H.R.*\&nbsp;; Wortmann,\&nbsp;S.B.\&nbsp;; Kölker,\&nbsp;S.*\&nbsp;; Hoffmann,\&nbsp;G.F.*\&nbsp;; Prokisch,\&nbsp;H.\&nbsp;; Mendes,\&nbsp;M.I.*\&nbsp;; Staufner,\&nbsp;C.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59757&la=de'>Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in \<em\>LARS1\</em\>.</a></div>");
document.write("  <div class='source'>Genet. Med. 22, 1863-1873 (2020)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Singh,\&nbsp;S.*\&nbsp;; Gupta,\&nbsp;A.*\&nbsp;; Zech,\&nbsp;M.\&nbsp;; Sigafoos,\&nbsp;A.N.*\&nbsp;; Clark,\&nbsp;K.J.*\&nbsp;; Dincer,\&nbsp;Y.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Humberson,\&nbsp;J.B.*\&nbsp;; Green,\&nbsp;S.*\&nbsp;; van Gassen,\&nbsp;K.*\&nbsp;; Brandt,\&nbsp;T.*\&nbsp;; Schnur,\&nbsp;R.E.*\&nbsp;; Millan,\&nbsp;F.*\&nbsp;; Si,\&nbsp;Y.*\&nbsp;; Mall,\&nbsp;V.*\&nbsp;; Winkelmann,\&nbsp;J.\&nbsp;; Gavrilova,\&nbsp;R.H.*\&nbsp;; Klee,\&nbsp;E.W.*\&nbsp;; Engleman,\&nbsp;K.*\&nbsp;; Safina,\&nbsp;N.P.*\&nbsp;; Slaugh,\&nbsp;R.*\&nbsp;; Bryant,\&nbsp;E.M.*\&nbsp;; Tan,\&nbsp;W.H.*\&nbsp;; Granadillo,\&nbsp;J.*\&nbsp;; Misra,\&nbsp;S.N.*\&nbsp;; Schaefer,\&nbsp;G.B.*\&nbsp;; Towner,\&nbsp;S.*\&nbsp;; Brilstra,\&nbsp;E.H.*\&nbsp;; Koeleman,\&nbsp;B.P.C.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59025&la=de'>De novo variants of \<em\>NR4A2\</em\> are associated with neurodevelopmental disorder and epilepsy.</a></div>");
document.write("  <div class='source'>Genet. Med. 22, 1413–1417 (2020)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Staufner,\&nbsp;C.*\&nbsp;; Peters,\&nbsp;B.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Alameer,\&nbsp;S.*\&nbsp;; Barić,\&nbsp;I.*\&nbsp;; Broué,\&nbsp;P.*\&nbsp;; Bulut,\&nbsp;D.*\&nbsp;; Church,\&nbsp;J.A.*\&nbsp;; Crushell,\&nbsp;E.*\&nbsp;; Dalgıç,\&nbsp;B.*\&nbsp;; Das,\&nbsp;A.M.*\&nbsp;; Dick,\&nbsp;A.*\&nbsp;; Dikow,\&nbsp;N.*\&nbsp;; Dionisi-Vici,\&nbsp;C.*\&nbsp;; Distelmaier,\&nbsp;F.*\&nbsp;; Bozbulut,\&nbsp;N.E.*\&nbsp;; Feillet,\&nbsp;F.*\&nbsp;; Gonzales,\&nbsp;E.*\&nbsp;; Hadzic,\&nbsp;N.*\&nbsp;; Hauck,\&nbsp;F.*\&nbsp;; Hegarty,\&nbsp;R.*\&nbsp;; Hempel,\&nbsp;M.*\&nbsp;; Herget,\&nbsp;T.*\&nbsp;; Klein,\&nbsp;C.*\&nbsp;; Konstantopoulou,\&nbsp;V.*\&nbsp;; Kopajtich,\&nbsp;R.\&nbsp;; Kuster,\&nbsp;A.*\&nbsp;; Laass,\&nbsp;M.W.*\&nbsp;; Lainka,\&nbsp;E.*\&nbsp;; Larson-Nath,\&nbsp;C.*\&nbsp;; Leibner,\&nbsp;A.*\&nbsp;; Lurz,\&nbsp;E.*\&nbsp;; Mayr,\&nbsp;J.A.*\&nbsp;; McKiernan,\&nbsp;P.J.*\&nbsp;; Mention,\&nbsp;K.*\&nbsp;; Moog,\&nbsp;U.*\&nbsp;; Mungan,\&nbsp;N.O.*\&nbsp;; Riedhammer,\&nbsp;K.M.\&nbsp;; Santer,\&nbsp;R.*\&nbsp;; Palafoll,\&nbsp;I.V.*\&nbsp;; Vockley,\&nbsp;J.*\&nbsp;; Westphal,\&nbsp;D.S.\&nbsp;; Wiedemann,\&nbsp;A.*\&nbsp;; Wortmann,\&nbsp;S.B.\&nbsp;; Diwan,\&nbsp;G.D.*\&nbsp;; Russell,\&nbsp;R.B.*\&nbsp;; Prokisch,\&nbsp;H.\&nbsp;; Garbade,\&nbsp;S.F.*\&nbsp;; Kölker,\&nbsp;S.*\&nbsp;; Hoffmann,\&nbsp;G.F.*\&nbsp;; Lenz,\&nbsp;D.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57419&la=de'>Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.</a></div>");
document.write("  <div class='source'>Genet. Med. 22, 610-621 (2020)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>van Rijt,\&nbsp;W.J.*\&nbsp;; Jager,\&nbsp;E.A.*\&nbsp;; Allersma,\&nbsp;D.P.*\&nbsp;; Aktuğlu Zeybek,\&nbsp;A.C.*\&nbsp;; Bhattacharya,\&nbsp;K.*\&nbsp;; Debray,\&nbsp;F.G.*\&nbsp;; Ellaway,\&nbsp;C.J.*\&nbsp;; Gautschi,\&nbsp;M.*\&nbsp;; Geraghty,\&nbsp;M.T.*\&nbsp;; Gil-Ortega,\&nbsp;D.*\&nbsp;; Larson,\&nbsp;A.A.*\&nbsp;; Moore,\&nbsp;F.*\&nbsp;; Morava,\&nbsp;E.*\&nbsp;; Morris,\&nbsp;A.A.*\&nbsp;; Oishi,\&nbsp;K.*\&nbsp;; Schiff,\&nbsp;M.*\&nbsp;; Scholl-Bürgi,\&nbsp;S.*\&nbsp;; Tchan,\&nbsp;M.C.*\&nbsp;; Vockley,\&nbsp;J.*\&nbsp;; Witters,\&nbsp;P.*\&nbsp;; Wortmann,\&nbsp;S.B.\&nbsp;; van Spronsen,\&nbsp;F.*\&nbsp;; van Hove,\&nbsp;J.L.K.*\&nbsp;; Derks,\&nbsp;T.G.J.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57762&la=de'>Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.</a></div>");
document.write("  <div class='source'>Genet. Med. 22, 908–916 (2020)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Wagner,\&nbsp;M.\&nbsp;; Lévy,\&nbsp;J.*\&nbsp;; Jung-Klawitter,\&nbsp;S.*\&nbsp;; Bakhtiari,\&nbsp;S.*\&nbsp;; Monteiro,\&nbsp;F.*\&nbsp;; Maroofian,\&nbsp;R.*\&nbsp;; Bierhals,\&nbsp;T.*\&nbsp;; Hempel,\&nbsp;M.*\&nbsp;; Elmaleh-Bergès,\&nbsp;M.*\&nbsp;; Kitajima,\&nbsp;J.P.*\&nbsp;; Kim,\&nbsp;C.A.*\&nbsp;; Salomao,\&nbsp;J.G.*\&nbsp;; Amor,\&nbsp;D.J.*\&nbsp;; Cooper,\&nbsp;M.S.*\&nbsp;; Perrin,\&nbsp;L.*\&nbsp;; Pipiras,\&nbsp;E.*\&nbsp;; Neu,\&nbsp;A.*\&nbsp;; Doosti,\&nbsp;M.*\&nbsp;; Karimiani,\&nbsp;E.G.*\&nbsp;; Toosi,\&nbsp;M.B.*\&nbsp;; Houlden,\&nbsp;H.*\&nbsp;; Jin,\&nbsp;S.C.*\&nbsp;; Si,\&nbsp;Y.C.*\&nbsp;; Rodan,\&nbsp;L.H.*\&nbsp;; Venselaar,\&nbsp;H.*\&nbsp;; Kruer,\&nbsp;M.C.*\&nbsp;; Kok,\&nbsp;F.*\&nbsp;; Hoffmann,\&nbsp;G.F.*\&nbsp;; Strom,\&nbsp;T.M.*\&nbsp;; Wortmann,\&nbsp;S.B.\&nbsp;; Tabet,\&nbsp;A.C.*\&nbsp;; Opladen,\&nbsp;T.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58474&la=de'>Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.</a></div>");
document.write("  <div class='source'>Genet. Med. 22, 1061-1068 (2020)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Feichtinger,\&nbsp;R.G.*\&nbsp;; Mucha,\&nbsp;B.E.*\&nbsp;; Hengel,\&nbsp;H.*\&nbsp;; Orfi,\&nbsp;Z.*\&nbsp;; Makowski,\&nbsp;C.*\&nbsp;; Dort,\&nbsp;J.*\&nbsp;; D\'Anjou,\&nbsp;G.*\&nbsp;; Nguyen,\&nbsp;T.T.M.*\&nbsp;; Buchert,\&nbsp;R.*\&nbsp;; Juenger,\&nbsp;H.*\&nbsp;; Freisinger,\&nbsp;P.*\&nbsp;; Baumeister,\&nbsp;S.*\&nbsp;; Schoser,\&nbsp;B.*\&nbsp;; Ahting,\&nbsp;U.*\&nbsp;; Keimer,\&nbsp;R.*\&nbsp;; Nguyen,\&nbsp;C.E.*\&nbsp;; Fabre,\&nbsp;P.*\&nbsp;; Gauthier,\&nbsp;J.*\&nbsp;; Miguet,\&nbsp;M.*\&nbsp;; Lopes,\&nbsp;F.*\&nbsp;; AlHakeem,\&nbsp;A.*\&nbsp;; Alhashem,\&nbsp;A.*\&nbsp;; Tabarki,\&nbsp;B.*\&nbsp;; Kandaswamy,\&nbsp;K.K.*\&nbsp;; Bauer,\&nbsp;P.*\&nbsp;; Steinbacher,\&nbsp;P.*\&nbsp;; Prokisch,\&nbsp;H.\&nbsp;; Sturm,\&nbsp;M.*\&nbsp;; Strom,\&nbsp;T.M.\&nbsp;; Ellezam,\&nbsp;B.*\&nbsp;; Mayr,\&nbsp;J.A.*\&nbsp;; Schöls,\&nbsp;L.*\&nbsp;; Michaud,\&nbsp;J.L.*\&nbsp;; Campeau,\&nbsp;P.M.*\&nbsp;; Haack,\&nbsp;T.B.*\&nbsp;; Dumont,\&nbsp;N.A.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56080&la=de'>Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.</a></div>");
document.write("  <div class='source'>Genet. Med. 21, 2521-2531 (2019)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Fountain,\&nbsp;M.D.*\&nbsp;; Oleson,\&nbsp;D.S.*\&nbsp;; Rech,\&nbsp;M.E.*\&nbsp;; Segebrecht,\&nbsp;L.*\&nbsp;; Hunter,\&nbsp;J.V.*\&nbsp;; McCarthy,\&nbsp;J.M.*\&nbsp;; Lupo,\&nbsp;P.J.*\&nbsp;; Holtgrewe,\&nbsp;M.*\&nbsp;; Moran,\&nbsp;R.*\&nbsp;; Rosenfeld,\&nbsp;J.A.*\&nbsp;; Isidor,\&nbsp;B.*\&nbsp;; Le Caignec,\&nbsp;C.*\&nbsp;; Saenz,\&nbsp;M.S.*\&nbsp;; Pedersen,\&nbsp;R.C.*\&nbsp;; Morgan,\&nbsp;T.M.*\&nbsp;; Pfotenhauer,\&nbsp;J.P.*\&nbsp;; Xia,\&nbsp;F.*\&nbsp;; Bi,\&nbsp;W.*\&nbsp;; Kang,\&nbsp;S.H.L.*\&nbsp;; Patel,\&nbsp;A.*\&nbsp;; Krantz,\&nbsp;I.D.*\&nbsp;; Raible,\&nbsp;S.E.*\&nbsp;; Smith,\&nbsp;W.*\&nbsp;; Cristian,\&nbsp;I.*\&nbsp;; Torti,\&nbsp;E.*\&nbsp;; Juusola,\&nbsp;J.*\&nbsp;; Millan,\&nbsp;F.*\&nbsp;; Wentzensen,\&nbsp;I.M.*\&nbsp;; Person,\&nbsp;R.E.*\&nbsp;; Küry,\&nbsp;S.*\&nbsp;; Bézieau,\&nbsp;S.*\&nbsp;; Uguen,\&nbsp;K.*\&nbsp;; Férec,\&nbsp;C.*\&nbsp;; Munnich,\&nbsp;A.*\&nbsp;; van Haelst,\&nbsp;M.*\&nbsp;; Lichtenbelt,\&nbsp;K.D.*\&nbsp;; van Gassen,\&nbsp;K.*\&nbsp;; Hagelstrom,\&nbsp;T.*\&nbsp;; Chawla,\&nbsp;A.*\&nbsp;; Perry,\&nbsp;D.L.*\&nbsp;; Taft,\&nbsp;R.J.*\&nbsp;; Jones,\&nbsp;M.*\&nbsp;; Masser-Frye,\&nbsp;D.*\&nbsp;; Dyment,\&nbsp;D.*\&nbsp;; Venkateswaran,\&nbsp;S.*\&nbsp;; Li,\&nbsp;C.*\&nbsp;; Escobar,\&nbsp;L.F.*\&nbsp;; Horn,\&nbsp;D.*\&nbsp;; Spillmann,\&nbsp;R.C.*\&nbsp;; Peña,\&nbsp;L.*\&nbsp;; Wierzba,\&nbsp;J.*\&nbsp;; Strom,\&nbsp;T.M.\&nbsp;; Parenti,\&nbsp;I.*\&nbsp;; Kaiser,\&nbsp;F.J.*\&nbsp;; Ehmke,\&nbsp;N.*\&nbsp;; Schaaf,\&nbsp;C.P.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55425&la=de'>Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.</a></div>");
document.write("  <div class='source'>Genet. Med. 21, 1797-1807 (2019)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Khan,\&nbsp;K.*\&nbsp;; Zech,\&nbsp;M.\&nbsp;; Morgan,\&nbsp;A.T.*\&nbsp;; Amor,\&nbsp;D.J.*\&nbsp;; Škorvánek,\&nbsp;M.*\&nbsp;; Khan,\&nbsp;T.N.*\&nbsp;; Hildebrand,\&nbsp;M.S.*\&nbsp;; Jackson,\&nbsp;V.E.*\&nbsp;; Scerri,\&nbsp;T.S.*\&nbsp;; Coleman,\&nbsp;M.*\&nbsp;; Rigbye,\&nbsp;K.A.*\&nbsp;; Scheffer,\&nbsp;I.E.*\&nbsp;; Bahlo,\&nbsp;M.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Lam,\&nbsp;D.D.\&nbsp;; Berutti,\&nbsp;R.\&nbsp;; Havránková,\&nbsp;P.*\&nbsp;; Fečíková,\&nbsp;A.*\&nbsp;; Strom,\&nbsp;T.M.\&nbsp;; Han,\&nbsp;V.*\&nbsp;; Dosekova,\&nbsp;P.*\&nbsp;; Gdovinova,\&nbsp;Z.*\&nbsp;; Laccone,\&nbsp;F.*\&nbsp;; Jameel,\&nbsp;M.*\&nbsp;; Mooney,\&nbsp;M.R.*\&nbsp;; Baig,\&nbsp;S.M.*\&nbsp;; Jech,\&nbsp;R.*\&nbsp;; Davis,\&nbsp;E.E.*\&nbsp;; Katsanis,\&nbsp;N.*\&nbsp;; Winkelmann,\&nbsp;J.</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55959&la=de'>Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.</a></div>");
document.write("  <div class='source'>Genet. Med. 21, 2532-2542 (2019)</div>");
document.write("</div>");
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document.write("  <div class='authors'>Lenz,\&nbsp;D.*\&nbsp;; McClean,\&nbsp;P.*\&nbsp;; Kansu,\&nbsp;A.*\&nbsp;; Bonnen,\&nbsp;P.E.*\&nbsp;; Ranucci,\&nbsp;G.*\&nbsp;; Thiel,\&nbsp;C.*\&nbsp;; Straub,\&nbsp;B.K.*\&nbsp;; Harting,\&nbsp;I.*\&nbsp;; Alhaddad,\&nbsp;B.*\&nbsp;; Dimitrov,\&nbsp;B.*\&nbsp;; Kotzaeridou,\&nbsp;U.*\&nbsp;; Wenning,\&nbsp;D.*\&nbsp;; Iorio,\&nbsp;R.*\&nbsp;; Himes,\&nbsp;R.W.*\&nbsp;; Kuloglu,\&nbsp;Z.*\&nbsp;; Blakely,\&nbsp;E.L.*\&nbsp;; Taylor,\&nbsp;R.W.*\&nbsp;; Meitinger,\&nbsp;T.\&nbsp;; Koelker,\&nbsp;S.*\&nbsp;; Prokisch,\&nbsp;H.\&nbsp;; Hoffmann,\&nbsp;G.F.*\&nbsp;; Haack,\&nbsp;T.B.\&nbsp;; Staufner,\&nbsp;C.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54749&la=de'>SCYL1 variants cause a syndrome with low gamma-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).</a></div>");
document.write("  <div class='source'>Genet. Med. 20, 1255-1265 (2018)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Severin,\&nbsp;F.\&nbsp;; Stollenwerk,\&nbsp;B.\&nbsp;; Holinski-Feder,\&nbsp;E.*\&nbsp;; Meyer,\&nbsp;E.\&nbsp;; Heinemann,\&nbsp;V.*\&nbsp;; Giessen-Jung,\&nbsp;C.*\&nbsp;; Rogowski,\&nbsp;W.H.</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43072&la=de'>Economic evaluation of genetic screening for Lynch syndrome in Germany.</a></div>");
document.write("  <div class='source'>Genet. Med. 17, 765-773 (2015)</div>");
document.write("</div>");