M. Kreiß

发表

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

M. Nöthen, D. Horn, S. Mundlos, 2021, medRxiv.

Loss-of-function variants in HIVEP2 are a cause of intellectual disability

T. Wieland, T. Strom, D. Wieczorek, 2015, European Journal of Human Genetics.

Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin

T. Klockgether, M. Sturm, M. Synofzik, 2022, Movement disorders : official journal of the Movement Disorder Society.

Whole exome sequencing and array‐based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson–Golabi–Behmel syndrome

A. Hoischen, U. Gembruch, H. Reutter, 2016, Prenatal diagnosis.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

M. Nöthen, D. Horn, S. Mundlos, 2022, Nature Genetics.

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies

T. Strom, D. Wieczorek, M. Sturm, 2018, Human Genetics.

Bi-allelic truncating mutations in VWA1 cause neuromyopathy.

B. Schlotter-Weigel, T. Meitinger, T. Strom, 2021, Brain : a journal of neurology.

De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia

T. Eggermann, H. Engels, H. Reutter, 2018, Frontiers in Pediatrics.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

D. Horn, S. Mundlos, M. Spielmann, 2022, Nature Genetics.

De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth

T. Wieland, T. Strom, D. Wieczorek, 2016, European Journal of Human Genetics.

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.

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies

T. Strom, D. Wieczorek, M. Sturm, 2018, Human Genetics.

Identification of a founder mutation in KRT14 associated with Naegeli–Franceschetti–Jadassohn syndrome

O. Sarig, G. Richard, E. Sprecher, 2020, The British journal of dermatology.