Neurodevelopmental disorders—the history and future of a diagnostic concept DJ Morris-Rosendahl, MA Crocq Dialogues in clinical neuroscience 22 (1), 65-72, 2020 | 444 | 2020 |
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis F Kortüm, S Das, M Flindt, DJ Morris-Rosendahl, I Stefanova, A Goldstein, ... Journal of medical genetics 48 (6), 396-406, 2011 | 269 | 2011 |
Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat: a candidate for schizophrenia and bipolar disorder? KG Chandy, E Fantino, O Wittekindt, K Kalman, LL Tong, TH Ho, ... Molecular psychiatry 3 (1), 32-37, 1998 | 255 | 1998 |
De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry J Wallmeier, D Frank, A Shoemark, T Nöthe-Menchen, S Cindric, ... The American Journal of Human Genetics 105 (5), 1030-1039, 2019 | 180 | 2019 |
Brief research communication: serotonin transporter (5‐HTT) gene polymorphisms are not associated with susceptibility to mood disorders MR Hoehe, B Wendel, I Grunewald, P Chiaroni, N Levy, ... American journal of medical genetics 81 (1), 1-3, 1998 | 153 | 1998 |
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans RP Liegel, MT Handley, A Ronchetti, S Brown, L Langemeyer, A Linford, ... The American Journal of Human Genetics 93 (6), 1001-1014, 2013 | 140 | 2013 |
Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome MT Handley, DJ Morris‐Rosendahl, S Brown, F Macdonald, C Hardy, ... Human mutation 34 (5), 686-696, 2013 | 128 | 2013 |
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome LM McDonell, GM Mirzaa, D Alcantara, J Schwartzentruber, MT Carter, ... Nature genetics 45 (5), 556-562, 2013 | 124 | 2013 |
Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype P Bauer, F Laccone, A Rolfs, U Wüllner, S Bösch, H Peters, S Liebscher, ... Journal of medical genetics 41 (3), 230-232, 2004 | 119 | 2004 |
BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies G Borck, F Hög, ML Dentici, PL Tan, N Sowada, A Medeira, L Gueneau, ... Genome research 25 (2), 155-166, 2015 | 115 | 2015 |
DNA analysis of Huntington’s disease: five years of experience in Germany, Austria, and Switzerland F Laccone, U Engel, E Holinski–Feder, M Weigell–Weber, K Marczinek, ... Neurology 53 (4), 801-801, 1999 | 112 | 1999 |
Refining the phenotype of α‐1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly DJ Morris‐Rosendahl, J Najm, AMA Lachmeijer, L Sztriha, M Martins, ... Clinical genetics 74 (5), 425-433, 2008 | 100 | 2008 |
CardioClassifier: disease-and gene-specific computational decision support for clinical genome interpretation N Whiffin, R Walsh, R Govind, M Edwards, M Ahmad, X Zhang, U Tayal, ... Genetics in Medicine 20 (10), 1246-1254, 2018 | 96 | 2018 |
Autosomal recessive primary microcephaly (MCPH): an update S Zaqout, D Morris-Rosendahl, AM Kaindl Neuropediatrics 48 (03), 135-142, 2017 | 93 | 2017 |
Disturbed Wnt signalling due to a mutation in CCDC88C causes an autosomal recessive non-syndromic hydrocephalus with medial diverticulum AB Ekici, D Hilfinger, M Jatzwauk, CT Thiel, D Wenzel, I Lorenz, ... Molecular syndromology 1 (3), 99-112, 2010 | 93 | 2010 |
A novel allelic variant of the human serotonin transporter gene regulatory polymorphism SJW Delbrück, B Wendel, I Grunewald, T Sander, D Morris-Rosendahl, ... Cytogenetic and Genome Research 79 (3-4), 214-220, 1997 | 93 | 1997 |
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome G Borck, H Wunram, A Steiert, AE Volk, F Körber, S Roters, P Herkenrath, ... Human genetics 129, 45-50, 2011 | 88 | 2011 |
What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH) DJ Morris-Rosendahl, AM Kaindl Molecular and cellular probes 29 (5), 271-281, 2015 | 81 | 2015 |
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish DJ Morris-Rosendahl, R Segel, AP Born, C Conrad, B Loeys, SS Brooks, ... European Journal of Human Genetics 18 (10), 1100-1106, 2010 | 78 | 2010 |
The role of genetics and genomics in clinical psychiatry MR Hoehe, DJ Morris-Rosendahl Dialogues in clinical neuroscience 20 (3), 169-177, 2018 | 77 | 2018 |