document.write("<div class='record'>");
document.write("  <div class='authors'>Stehr,\&nbsp;A.M.*\&nbsp;; Lenberg,\&nbsp;J.*\&nbsp;; Friedman,\&nbsp;J.*\&nbsp;; Dobbelaere,\&nbsp;D.*\&nbsp;; Imbard,\&nbsp;A.*\&nbsp;; Lévy,\&nbsp;J.*\&nbsp;; Donoghue,\&nbsp;S.*\&nbsp;; Derive,\&nbsp;N.*\&nbsp;; Stoeva,\&nbsp;R.*\&nbsp;; Gueguen,\&nbsp;P.*\&nbsp;; Zech,\&nbsp;M.</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=71931&la=en'>Consolidating the role of mutated \<em\>ATP2B2\</em\> in neurodevelopmental and cerebellar pathologies.</a></div>");
document.write("  <div class='source'>Clin. Genet., DOI: 10.1111/cge.14622 (2024)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Popp,\&nbsp;B.*\&nbsp;; Brugger,\&nbsp;M.*\&nbsp;; Poschmann,\&nbsp;S.*\&nbsp;; Bartolomaeus,\&nbsp;T.*\&nbsp;; Radtke,\&nbsp;M.*\&nbsp;; Hentschel,\&nbsp;J.*\&nbsp;; di Donato,\&nbsp;N.*\&nbsp;; Rump,\&nbsp;A.*\&nbsp;; Gburek-Augustat,\&nbsp;J.*\&nbsp;; Graf,\&nbsp;E.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Sorge,\&nbsp;I.*\&nbsp;; Lemke,\&nbsp;J.R.*\&nbsp;; Meitinger,\&nbsp;T.*\&nbsp;; Abou Jamra,\&nbsp;R.*\&nbsp;; Strehlow,\&nbsp;V.*\&nbsp;; Brunet,\&nbsp;T.</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66362&la=en'>The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.</a></div>");
document.write("  <div class='source'>Clin. Genet. 103, 226-230 (2023)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Weiss,\&nbsp;K.J.*\&nbsp;; Berger,\&nbsp;U.*\&nbsp;; Haider,\&nbsp;M.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Märtner,\&nbsp;E.M.C.*\&nbsp;; Regenauer-Vandewiele,\&nbsp;S.*\&nbsp;; Lotz-Havla,\&nbsp;A.*\&nbsp;; Schuhmann,\&nbsp;E.*\&nbsp;; Röschinger,\&nbsp;W.*\&nbsp;; Maier,\&nbsp;E.M.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67520&la=en'>Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.</a></div>");
document.write("  <div class='source'>Clin. Genet. 103, 644-654 (2023)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Christensen,\&nbsp;M.B.*\&nbsp;; Levy,\&nbsp;A.M.*\&nbsp;; Mohammadi,\&nbsp;N.A.*\&nbsp;; Niceta,\&nbsp;M.*\&nbsp;; Kaiyrzhanov,\&nbsp;R.*\&nbsp;; Dentici,\&nbsp;M.L.*\&nbsp;; Al Alam,\&nbsp;C.*\&nbsp;; Alesi,\&nbsp;V.*\&nbsp;; Benoit,\&nbsp;V.*\&nbsp;; Bhatia,\&nbsp;K.P.*\&nbsp;; Bierhals,\&nbsp;T.*\&nbsp;; Boßelmann,\&nbsp;C.M.*\&nbsp;; Buratti,\&nbsp;J.*\&nbsp;; Callewaert,\&nbsp;B.*\&nbsp;; Ceulemans,\&nbsp;B.*\&nbsp;; Charles,\&nbsp;P.*\&nbsp;; De Wachter,\&nbsp;M.*\&nbsp;; Dehghani,\&nbsp;M.*\&nbsp;; D\'haenens,\&nbsp;E.*\&nbsp;; Doco-Fenzy,\&nbsp;M.*\&nbsp;; Geßner,\&nbsp;M.*\&nbsp;; Gobert,\&nbsp;C.*\&nbsp;; Guliyeva,\&nbsp;U.*\&nbsp;; Haack,\&nbsp;T.B.*\&nbsp;; Hammer,\&nbsp;T.B.*\&nbsp;; Heinrich,\&nbsp;T.*\&nbsp;; Hempel,\&nbsp;M.*\&nbsp;; Herget,\&nbsp;T.*\&nbsp;; Hoffmann,\&nbsp;U.*\&nbsp;; Horvath,\&nbsp;J.*\&nbsp;; Houlden,\&nbsp;H.*\&nbsp;; Keren,\&nbsp;B.*\&nbsp;; Kresge,\&nbsp;C.*\&nbsp;; Kumps,\&nbsp;C.*\&nbsp;; Lederer,\&nbsp;D.J.*\&nbsp;; Lermine,\&nbsp;A.*\&nbsp;; Magrinelli,\&nbsp;F.*\&nbsp;; Maroofian,\&nbsp;R.*\&nbsp;; Vahidi Mehrjardi,\&nbsp;M.Y.*\&nbsp;; Moudi,\&nbsp;M.*\&nbsp;; Müller,\&nbsp;A.J.*\&nbsp;; Oostra,\&nbsp;A.J.*\&nbsp;; Pletcher,\&nbsp;B.A.*\&nbsp;; Ros-Pardo,\&nbsp;D.*\&nbsp;; Samarasekera,\&nbsp;S.*\&nbsp;; Tartaglia,\&nbsp;M.*\&nbsp;; Van Schil,\&nbsp;K.*\&nbsp;; Vogt,\&nbsp;J.*\&nbsp;; Wassmer,\&nbsp;E.*\&nbsp;; Winkelmann,\&nbsp;J.\&nbsp;; Zaki,\&nbsp;M.S.*\&nbsp;; Zech,\&nbsp;M.\&nbsp;; Lerche,\&nbsp;H.*\&nbsp;; Radio,\&nbsp;F.C.*\&nbsp;; Gómez-Puertas,\&nbsp;P.*\&nbsp;; Møller,\&nbsp;R.S.*\&nbsp;; Tümer,\&nbsp;Z.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65388&la=en'>Biallelic variants in \<em\>ZNF142\</em\> lead to a syndromic neurodevelopmental disorder.</a></div>");
document.write("  <div class='source'>Clin. Genet. 102, 98-109 (2022)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Brunet,\&nbsp;T.*\&nbsp;; Jech,\&nbsp;R.*\&nbsp;; Brugger,\&nbsp;M.*\&nbsp;; Kovacs,\&nbsp;R.*\&nbsp;; Alhaddad,\&nbsp;B.*\&nbsp;; Leszinski,\&nbsp;G.*\&nbsp;; Riedhammer,\&nbsp;K.M.*\&nbsp;; Westphal,\&nbsp;D.S.*\&nbsp;; Mahle,\&nbsp;I.*\&nbsp;; Mayerhanser,\&nbsp;K.*\&nbsp;; Škorvánek,\&nbsp;M.*\&nbsp;; Weber,\&nbsp;S.\&nbsp;; Graf,\&nbsp;E.\&nbsp;; Berutti,\&nbsp;R.*\&nbsp;; Necpál,\&nbsp;J.*\&nbsp;; Havránková,\&nbsp;P.*\&nbsp;; Pavelekova,\&nbsp;P.*\&nbsp;; Hempel,\&nbsp;M.*\&nbsp;; Kotzaeridou,\&nbsp;U.*\&nbsp;; Hoffmann,\&nbsp;G.F.*\&nbsp;; Leiz,\&nbsp;S.*\&nbsp;; Makowski,\&nbsp;C.*\&nbsp;; Roser,\&nbsp;T.*\&nbsp;; Schroeder,\&nbsp;S.A.*\&nbsp;; Steinfeld,\&nbsp;R.*\&nbsp;; Strobl-Wildemann,\&nbsp;G.*\&nbsp;; Hoefele,\&nbsp;J.*\&nbsp;; Borggraefe,\&nbsp;I.*\&nbsp;; Distelmaier,\&nbsp;F.*\&nbsp;; Strom,\&nbsp;T.M.*\&nbsp;; Winkelmann,\&nbsp;J.\&nbsp;; Meitinger,\&nbsp;T.*\&nbsp;; Zech,\&nbsp;M.\&nbsp;; Wagner,\&nbsp;M.</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61486&la=en'>\<em\>De novo\</em\> variants in neurodevelopmental disorders-experiences from a tertiary care center.</a></div>");
document.write("  <div class='source'>Clin. Genet. 100, 14-28 (2021)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Schuch,\&nbsp;L.A.*\&nbsp;; Forstner,\&nbsp;M.*\&nbsp;; Rapp,\&nbsp;C.K.*\&nbsp;; Li,\&nbsp;Y.*\&nbsp;; Smith,\&nbsp;D.E.C.*\&nbsp;; Mendes,\&nbsp;M.I.*\&nbsp;; Delhommel,\&nbsp;F.\&nbsp;; Sattler,\&nbsp;M.\&nbsp;; Emiralioğlu,\&nbsp;N.*\&nbsp;; Taskiran,\&nbsp;E.Z.*\&nbsp;; Orhan,\&nbsp;D.*\&nbsp;; Kiper,\&nbsp;N.*\&nbsp;; Rohlfs,\&nbsp;M.*\&nbsp;; Jeske,\&nbsp;T.*\&nbsp;; Hastreiter,\&nbsp;M.*\&nbsp;; Gerstlauer,\&nbsp;M.*\&nbsp;; Torrent-Vernetta,\&nbsp;A.*\&nbsp;; Moreno-Galdó,\&nbsp;A.*\&nbsp;; Kammer,\&nbsp;B.*\&nbsp;; Brasch,\&nbsp;F.*\&nbsp;; Reu-Hofer,\&nbsp;S.*\&nbsp;; Griese,\&nbsp;M.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61499&la=en'>FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!</a></div>");
document.write("  <div class='source'>Clin. Genet. 99, 789-801 (2021)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Schwaibold,\&nbsp;E.M.C.*\&nbsp;; Brugger,\&nbsp;M.*\&nbsp;; Wagner,\&nbsp;M.</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62623&la=en'>A C-terminal \<em\>BCOR\</em\> nonsense variant in a male patient expands the phenotypic spectrum of \<em\>BCOR\</em\>-associated syndromic microphthalmia.</a></div>");
document.write("  <div class='source'>Clin. Genet. 100, 489-490 (2021)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>van der Ven,\&nbsp;A.T.*\&nbsp;; Johannsen,\&nbsp;J.*\&nbsp;; Kortüm,\&nbsp;F.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Tsiakas,\&nbsp;K.*\&nbsp;; Bierhals,\&nbsp;T.*\&nbsp;; Lessel,\&nbsp;D.*\&nbsp;; Herget,\&nbsp;T.*\&nbsp;; Kloth,\&nbsp;K.*\&nbsp;; Lisfeld,\&nbsp;J.*\&nbsp;; Scholz,\&nbsp;T.*\&nbsp;; Obi,\&nbsp;N.*\&nbsp;; Wortmann,\&nbsp;S.B.\&nbsp;; Prokisch,\&nbsp;H.\&nbsp;; Kubisch,\&nbsp;C.*\&nbsp;; Denecke,\&nbsp;J.*\&nbsp;; Santer,\&nbsp;R.*\&nbsp;; Hempel,\&nbsp;M.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62949&la=en'>Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.</a></div>");
document.write("  <div class='source'>Clin. Genet., DOI: 10.1111/cge.14061 (2021)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Gold,\&nbsp;N.B.*\&nbsp;; Li,\&nbsp;D.*\&nbsp;; Chassevent,\&nbsp;A.*\&nbsp;; Kaiser,\&nbsp;F.J.*\&nbsp;; Parenti,\&nbsp;I.*\&nbsp;; Strom,\&nbsp;T.M.\&nbsp;; Ramos,\&nbsp;F.J.*\&nbsp;; Puisac,\&nbsp;B.*\&nbsp;; Pié,\&nbsp;J.*\&nbsp;; McWalter,\&nbsp;K.*\&nbsp;; Guillen Sacoto,\&nbsp;M.J.*\&nbsp;; Cui,\&nbsp;H.*\&nbsp;; Saadeh-Haddad,\&nbsp;R.*\&nbsp;; Smith-Hicks,\&nbsp;C.*\&nbsp;; Rodan,\&nbsp;L.*\&nbsp;; Blair,\&nbsp;E.*\&nbsp;; Bhoj,\&nbsp;E.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60307&la=en'>Heterozygous de novo variants in \<em\>CSNK1G1\</em\> are associated with syndromic developmental delay and autism spectrum disorder.</a></div>");
document.write("  <div class='source'>Clin. Genet. 98, 571-576 (2020)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Kotzaeridou,\&nbsp;U.*\&nbsp;; Young-Baird,\&nbsp;S.K.*\&nbsp;; Suckow,\&nbsp;V.*\&nbsp;; Thornburg,\&nbsp;A.G.*\&nbsp;; Wagner,\&nbsp;M.\&nbsp;; Harting,\&nbsp;I.*\&nbsp;; Christ,\&nbsp;S.*\&nbsp;; Strom,\&nbsp;T.M.\&nbsp;; Dever,\&nbsp;T.E.*\&nbsp;; Kalscheuer,\&nbsp;V.M.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59917&la=en'>Novel pathogenic\<em\> EIF2S3\</em\> missense variants causing clinically variable \<em\>MEHMO\</em\> syndrome with impaired eIF2γ translational function, and literature review.</a></div>");
document.write("  <div class='source'>Clin. Genet. 98, 507-514 (2020)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Panneman,\&nbsp;D.M.*\&nbsp;; Wortmann,\&nbsp;S.B.\&nbsp;; Haaxma,\&nbsp;C.A.*\&nbsp;; van Hasselt,\&nbsp;P.M.*\&nbsp;; Wolf,\&nbsp;N.I.*\&nbsp;; Hendriks,\&nbsp;Y.*\&nbsp;; Küsters,\&nbsp;B.*\&nbsp;; van Emst-de Vries,\&nbsp;S.*\&nbsp;; van de Westerlo,\&nbsp;E.*\&nbsp;; Koopman,\&nbsp;W.J.H.*\&nbsp;; Wintjes,\&nbsp;L.*\&nbsp;; van den Brandt,\&nbsp;F.*\&nbsp;; de Vries,\&nbsp;M.*\&nbsp;; Lefeber,\&nbsp;D.J.*\&nbsp;; Smeitink,\&nbsp;J.A.M.*\&nbsp;; Rodenburg,\&nbsp;R.J.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57877&la=en'>Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.</a></div>");
document.write("  <div class='source'>Clin. Genet. 97, 556-566 (2020)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Westphal,\&nbsp;D.S.\&nbsp;; Leszinski,\&nbsp;G.*\&nbsp;; Rieger-Fackeldey,\&nbsp;E.*\&nbsp;; Graf,\&nbsp;E.\&nbsp;; Weirich,\&nbsp;G.*\&nbsp;; Meitinger,\&nbsp;T.\&nbsp;; Ostermayer,\&nbsp;E.*\&nbsp;; Oberhoffer,\&nbsp;R.*\&nbsp;; Wagner,\&nbsp;M.</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55684&la=en'>Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing.</a></div>");
document.write("  <div class='source'>Clin. Genet. 95, 582-589 (2019)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Baumann,\&nbsp;M.*\&nbsp;; Schreiber,\&nbsp;H.*\&nbsp;; Schlotter-Weigel,\&nbsp;B.*\&nbsp;; Löscher,\&nbsp;W.N.*\&nbsp;; Stucka,\&nbsp;R.*\&nbsp;; Karall,\&nbsp;D.*\&nbsp;; Strom,\&nbsp;T.M.\&nbsp;; Bauer,\&nbsp;P.*\&nbsp;; Krabichler,\&nbsp;B.*\&nbsp;; Fauth,\&nbsp;C.*\&nbsp;; Glaeser,\&nbsp;D.*\&nbsp;; Senderek,\&nbsp;J.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54485&la=en'>MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.</a></div>");
document.write("  <div class='source'>Clin. Genet. 95, 182-186 (2018)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Braunisch,\&nbsp;M.C.*\&nbsp;; Gallwitz,\&nbsp;H.*\&nbsp;; Abicht,\&nbsp;A.*\&nbsp;; Diebold,\&nbsp;I.*\&nbsp;; Holinski-Feder,\&nbsp;E.*\&nbsp;; van Maldergem,\&nbsp;L.*\&nbsp;; Lammens,\&nbsp;M.*\&nbsp;; Kovács-Nagy,\&nbsp;R.*\&nbsp;; Alhaddad,\&nbsp;B.*\&nbsp;; Strom,\&nbsp;T.M.\&nbsp;; Meitinger,\&nbsp;T.\&nbsp;; Senderek,\&nbsp;J.*\&nbsp;; Rudnik-Schöneborn,\&nbsp;S.*\&nbsp;; Haack,\&nbsp;T.B.</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52363&la=en'>Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.</a></div>");
document.write("  <div class='source'>Clin. Genet. 93, 255-265 (2017)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Bublitz,\&nbsp;S.K.*\&nbsp;; Alhaddad,\&nbsp;B.*\&nbsp;; Synofzik,\&nbsp;M.*\&nbsp;; Kuhl,\&nbsp;V.*\&nbsp;; Lindner,\&nbsp;A.*\&nbsp;; Freiberg,\&nbsp;C.*\&nbsp;; Schmidt,\&nbsp;H.*\&nbsp;; Strom,\&nbsp;T.M.\&nbsp;; Haack,\&nbsp;T.B.*\&nbsp;; Deschauer,\&nbsp;M.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51962&la=en'>Expanding the phenotype of \<em\>DNAJC3 \</em\>mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.</a></div>");
document.write("  <div class='source'>Clin. Genet. 92, 561-562 (2017)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Schormair,\&nbsp;B.\&nbsp;; Kemlink,\&nbsp;D.*\&nbsp;; Mollenhauer,\&nbsp;B.*\&nbsp;; Fiala,\&nbsp;O.*\&nbsp;; Machetanz,\&nbsp;G.*\&nbsp;; Roth,\&nbsp;J.*\&nbsp;; Berutti,\&nbsp;R.\&nbsp;; Strom,\&nbsp;T.M.\&nbsp;; Haslinger,\&nbsp;B.*\&nbsp;; Trenkwalder,\&nbsp;C.*\&nbsp;; Zahorakova,\&nbsp;D.*\&nbsp;; Martasek,\&nbsp;P.*\&nbsp;; Ruzicka,\&nbsp;E.*\&nbsp;; Winkelmann,\&nbsp;J.</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51787&la=en'>Diagnostic exome sequencing in early-onset Parkinson\&#39;s disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson\&#39;s disease.</a></div>");
document.write("  <div class='source'>Clin. Genet. 93, 603-612 (2017)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Umair,\&nbsp;M.\&nbsp;; Eckstein,\&nbsp;G.N.\&nbsp;; Rudolph,\&nbsp;G.*\&nbsp;; Strom,\&nbsp;T.M.\&nbsp;; Graf,\&nbsp;E.\&nbsp;; Hendig,\&nbsp;D.*\&nbsp;; Hoover,\&nbsp;J.*\&nbsp;; Alanay,\&nbsp;J.*\&nbsp;; Meitinger,\&nbsp;T.\&nbsp;; Schmidt,\&nbsp;H.*\&nbsp;; Ahmad,\&nbsp;W.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52334&la=en'>Homozygous XYLT2 variants as a cause of spondyloocular syndrome.</a></div>");
document.write("  <div class='source'>Clin. Genet. 93, 913-918 (2017)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Parenti,\&nbsp;I.*\&nbsp;; Gervasini,\&nbsp;C.*\&nbsp;; Pozojevic,\&nbsp;J.*\&nbsp;; Wendt,\&nbsp;K.S.*\&nbsp;; Watrin,\&nbsp;E.*\&nbsp;; Azzollini,\&nbsp;J.*\&nbsp;; Braunholz,\&nbsp;D.*\&nbsp;; Buiting,\&nbsp;K.*\&nbsp;; Cereda,\&nbsp;A.*\&nbsp;; Engels,\&nbsp;H.*\&nbsp;; Garavelli,\&nbsp;L.*\&nbsp;; Glazar,\&nbsp;R.*\&nbsp;; Graffmann,\&nbsp;B.*\&nbsp;; Larizza,\&nbsp;L.*\&nbsp;; Lüdecke,\&nbsp;H.J.*\&nbsp;; Mariani,\&nbsp;M.*\&nbsp;; Masciadri,\&nbsp;M.*\&nbsp;; Pié,\&nbsp;J.*\&nbsp;; Ramos,\&nbsp;F.J.*\&nbsp;; Russo,\&nbsp;S.*\&nbsp;; Selicorni,\&nbsp;A.*\&nbsp;; Stefanova,\&nbsp;M.*\&nbsp;; Strom,\&nbsp;T.M.\&nbsp;; Werner,\&nbsp;R.*\&nbsp;; Wierzba,\&nbsp;J.*\&nbsp;; Zampino,\&nbsp;G.*\&nbsp;; Gillessen-Kaesbach,\&nbsp;G.*\&nbsp;; Wieczorek,\&nbsp;D.*\&nbsp;; Kaiser,\&nbsp;F.J.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47858&la=en'>Expanding the clinical spectrum of the \&quot;HDAC8-phenotype\&quot; - implications for molecular diagnostics, counselling and risk prediction.</a></div>");
document.write("  <div class='source'>Clin. Genet. 89, 564-573 (2016)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Baquero-Montoya,\&nbsp;C.*\&nbsp;; Gil-Rodríguez,\&nbsp;M.C.*\&nbsp;; Braunholz,\&nbsp;D.*\&nbsp;; Teresa-Rodrigo,\&nbsp;M.E.*\&nbsp;; Obieglo,\&nbsp;C.*\&nbsp;; Gener,\&nbsp;B.*\&nbsp;; Schwarzmayr,\&nbsp;T.\&nbsp;; Strom,\&nbsp;T.M.\&nbsp;; Gómez-Puertas,\&nbsp;P.*\&nbsp;; Puisac,\&nbsp;B.*\&nbsp;; Gillessen-Kaesbach,\&nbsp;G.*\&nbsp;; Musio,\&nbsp;A.*\&nbsp;; Ramos,\&nbsp;F.J.*\&nbsp;; Kaiser,\&nbsp;F.J.*\&nbsp;; Pié,\&nbsp;J.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=29336&la=en'>Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.</a></div>");
document.write("  <div class='source'>Clin. Genet. 86, 595-597 (2014)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Elstner,\&nbsp;M.*\&nbsp;; Bettecken,\&nbsp;T.\&nbsp;; Wasner,\&nbsp;M.*\&nbsp;; Anneser,\&nbsp;F.*\&nbsp;; Dichgans,\&nbsp;M.*\&nbsp;; Meitinger,\&nbsp;T.\&nbsp;; Gasser,\&nbsp;T.*\&nbsp;; Klopstock,\&nbsp;T.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=1914&la=en'>Familial carpal tunnel syndrome: Further evidence for a genetic contribution.</a></div>");
document.write("  <div class='source'>Clin. Genet. 69, 179-182 (2006)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Schmidt,\&nbsp;H.*\&nbsp;; Rudolph,\&nbsp;G.*\&nbsp;; Hergersberg,\&nbsp;M.*\&nbsp;; Schneider,\&nbsp;K.*\&nbsp;; Moradi,\&nbsp;S.*\&nbsp;; Meitinger,\&nbsp;T.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=23592&la=en'>Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome.</a></div>");
document.write("  <div class='source'>Clin. Genet. 59, 99-105 (2001)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>Midro,\&nbsp;A.T.*\&nbsp;; Panasiuk,\&nbsp;B.*\&nbsp;; Stasiewicz-Jarocka,\&nbsp;B.*\&nbsp;; Iwanowski,\&nbsp;P.S.*\&nbsp;; Fauth,\&nbsp;C.*\&nbsp;; Speicher,\&nbsp;M.R.*\&nbsp;; Lesniewicz,\&nbsp;R.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=23792&la=en'>Risk estimates for carriers of chromosome reciprocal translocation t(4;9)(p15.2;p13).</a></div>");
document.write("  <div class='source'>Clin. Genet. 58, 153-155 (2000)</div>");
document.write("</div>");
document.write("<div class='record'>");
document.write("  <div class='authors'>von Gernet,\&nbsp;S.*\&nbsp;; Golla,\&nbsp;A.*\&nbsp;; Ehrenfels,\&nbsp;Y.*\&nbsp;; Schuffenhauer,\&nbsp;S.*\&nbsp;; Fairley,\&nbsp;J.D.*</div>");
document.write("  <div class='linked_title'><a href='https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=23802&la=en'>Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.</a></div>");
document.write("  <div class='source'>Clin. Genet. 57, 137-139 (2000)</div>");
document.write("</div>");