PuSH - HMGU Publikationen https://push-zb.helmholtz-munich.de PuSH - Publikationen-Server des Helmholtz Zentrums München de-de <![CDATA[Brunet, T.* et al. De novo variants in PPFIA2 in individuals with neurodevelopmental disorders. Am. J. Med. Genet. A:e64255 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=75706&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=75706&la=de Mon, 27 Oct 2025 00:00:00 +0000 <![CDATA[Krygier, M.* et al. The attenuated phenotype of CNTNAP1-related neuropathy mimics spastic-dystonic cerebral palsy. Am. J. Med. Genet. A:e64154 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=74938&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=74938&la=de Tue, 15 Jul 2025 00:00:00 +0000 <![CDATA[Lok, A.* et al. Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders. Am. J. Med. Genet. A 188, 2783-2789 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65317&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65317&la=de Wed, 01 Jun 2022 00:00:00 +0000 <![CDATA[Ragamin, A.* et al. Human RAD50 deficiency: Confirmation of a distinctive phenotype. Am. J. Med. Genet. A 182, 1378-1386 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58711&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58711&la=de Wed, 15 Apr 2020 00:00:00 +0000 <![CDATA[Windheuser, I.C.* et al. Nine newly identified individuals refine the phenotype associated with MYT1L mutations. Am. J. Med. Genet. A 182, 1021-1031 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58464&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58464&la=de Mon, 20 Apr 2020 00:00:00 +0000 <![CDATA[Rath, M.* et al. Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing. Am. J. Med. Genet. A 179, 295-299 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55036&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55036&la=de Wed, 09 Jan 2019 00:00:00 +0000 <![CDATA[Dennert, N.* et al. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. Am. J. Med. Genet. A 173, 435-443 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50097&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50097&la=de Sat, 31 Dec 2016 00:00:00 +0000 <![CDATA[Ripperger, T.* et al. Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology. Am. J. Med. Genet. A 173, 1017-1037 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50531&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50531&la=de Wed, 22 Mar 2017 00:00:00 +0000 <![CDATA[Said, E.* et al. Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. Am. J. Med. Genet. A 173, 3098-3103 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51956&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51956&la=de Thu, 28 Sep 2017 00:00:00 +0000 <![CDATA[Pekkarinen, T.A.* ; Lorenz-Depiereux, B. ; Lohman, M.* & Mäkitie, O.M.* Unusually severe hypophosphatemic rickets caused by a novel and complex re-arrangement of the PHEX gene. Am. J. Med. Genet. A 164, 2931-2937 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=32701&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=32701&la=de Wed, 05 Nov 2014 00:00:00 +0000 <![CDATA[Platzer, K.* et al. Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. Am. J. Med. Genet. A 164, 1976-1980 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31276&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31276&la=de Thu, 15 May 2014 00:00:00 +0000 <![CDATA[Salem, N.J.M.* et al. Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2. Am. J. Med. Genet. A 161, 1421-1424 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=25977&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=25977&la=de Thu, 25 Jul 2013 00:00:00 +0000 <![CDATA[Hempel, M. et al. Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization. Am. J. Med. Genet. A 149A, 2106-2112 (2009)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=336&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=336&la=de Wed, 25 Nov 2009 00:00:00 +0000 <![CDATA[Zirn, B.* et al. Polyneuropathy, Scoliosis, Tall Stature, and Oligodontia Represent Novel Features of the interstitial 6p Deletion Phenotype. Am. J. Med. Genet. A 146A, 2960-2965 (2008)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=3910&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=3910&la=de Wed, 31 Dec 2008 00:00:00 +0000 <![CDATA[Böhm, D.* et al. Association of Jacobsen syndrome and bipolar affective disorder in a patient with a De Novo 11q terminal deletion. Am. J. Med. Genet. A 140A, 378-382 (2006)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=3015&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=3015&la=de Thu, 02 Nov 2006 00:00:00 +0000 <![CDATA[Langer, S. et al. Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy. Am. J. Med. Genet. A 140A, 764-768 (2006)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2490&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2490&la=de Tue, 25 Apr 2006 00:00:00 +0000 <![CDATA[Glaser, B.* et al. Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations. Am. J. Med. Genet. A 126A, 229-236 (2004)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4425&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4425&la=de Sat, 06 Nov 2004 00:00:00 +0000 <![CDATA[Bannykh, S.I.* et al. Aberrant Pax1 and Pax9 Expression in Jarcho-Levin Syndrome : Report of two Caucasian Siblings and Literature Review. Am. J. Med. Genet. A 120 A, 241-246 (2003)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=22266&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=22266&la=de Wed, 23 Jul 2003 00:00:00 +0000