Ikuti
Deborah Morris-Rosendahl
Deborah Morris-Rosendahl
Royal Brompton and Harefield NHS Foundation Trust and Imperial College London
Email yang diverifikasi di imperial.ac.uk
Judul
Dikutip oleh
Dikutip oleh
Tahun
Neurodevelopmental disorders—the history and future of a diagnostic concept
DJ Morris-Rosendahl, MA Crocq
Dialogues in clinical neuroscience 22 (1), 65-72, 2020
4972020
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
2722011
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
2561998
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
1942019
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
1521998
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
1382013
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
1282013
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
1242013
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
1222004
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
1162015
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
1141999
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
1012018
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
1012008
Autosomal recessive primary microcephaly (MCPH): an update
S Zaqout, D Morris-Rosendahl, AM Kaindl
Neuropediatrics 48 (03), 135-142, 2017
962017
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
952010
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
931997
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
912011
The role of genetics and genomics in clinical psychiatry
MR Hoehe, DJ Morris-Rosendahl
Dialogues in clinical neuroscience 20 (3), 169-177, 2018
832018
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
812015
Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia
A Shoemark, B Rubbo, M Legendre, MR Fassad, EG Haarman, S Best, ...
European Respiratory Journal 58 (2), 2021
802021
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