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1.
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)
2.
Ragamin, A.* et al.: Human RAD50 deficiency: Confirmation of a distinctive phenotype. Am. J. Med. Genet. A 182, 1378-1386 (2020)
3.
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)
4.
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)
5.
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)
6.
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)
7.
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)
8.
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)
9.
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)
10.
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)
11.
Hempel, M. et al.: Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization. Am. J. Med. Genet. A 149A, 2106-2112 (2009)
12.
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)
13.
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)
14.
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)
15.
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)
16.
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)
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