N. Donato

发表

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

D. Horn, T. Wieland, E. Schröck, 2012, The Lancet.

HDAC8 mutations in Cornelia de Lange Syndrome affect the cohesin acetylation cycle

Gabriele Gillessen-Kaesbach, Ryuichiro Nakato, Katsuhiko Shirahige, 2012, Nature.

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

Sahar Mansour, Tim Morgan, Magdalena Götz, 2013, Nature Genetics.

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

T. Neuhann, G. Ravenscroft, N. Laing, 2016, Neuromuscular Disorders.

Cerebral organoids expressing mutant actin genes reveal cellular mechanism underlying microcephalic cortical malformation

N. Jovanov-Milošević, E. Schröck, W. Huttner, 2022 .

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture

S. Ocklenburg, C. Beste, N. Donato, 2016, Brain Structure and Function.

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome

E. Kasper, D. Wieczorek, A. Dörfler, 2017, Epilepsy & Behavior.

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

L. Richards, A. Barkovich, A. Afenjar, 2018, Neuron.

Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

Diana Le Duc, P. Bauer, J. Hentschel, 2019, bioRxiv.

Next-generation sequencing in X-linked intellectual disability

P. Bauer, C. Evers, C. Schroeder, 2015, European Journal of Human Genetics.

delineation of Malan syndrome.

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018 .

Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

A. Rump, A. Verloes, N. Donato, 2013, European Journal of Human Genetics.

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

Barbara Klink, Andreas Rump, Nataliya Di Donato, 2012, European Journal of Human Genetics.

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH

Barbara Klink, Andreas Rump, A. Rump, 2016, Breast Cancer Research and Treatment.

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Heinen, Heiko, Kehrer, 2023, medRxiv.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome.

E. Schröck, A. Rump, A. Tzschach, 2019, European journal of medical genetics.

A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2

A. Rump, R. Abou Jamra, E. Graf, 2022, medRxiv.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

G. Carvill, D. Ledbetter, M. Ross, 2018, Genetics in Medicine.

The non-muscle actinopathy-associated mutation E334Q in cytoskeletal γ-actin perturbs interaction of actin filaments with myosin and ADF/cofilin family proteins

D. Manstein, N. Donato, M. Taft, 2024, bioRxiv.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

G. Carvill, D. Ledbetter, M. Ross, 2018, Genetics in Medicine.