OOIR: Observatory of International Research

Papers

(The TQCC of Medizinische Genetik is 1. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-04-01 to 2024-04-01.)

Article	Citations
Polygenic scores for psychiatric disease: from research tool to clinical application	14
Spinal muscular atrophy (5qSMA): best practice of diagnostics, newborn screening and therapy	8
Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020	7
Non-syndromic hearing loss: clinical and diagnostic challenges	7
Genetic and epigenetic findings in anorexia nervosa	6
Expert interpretation of genes and variants in hereditary hearing loss	5
Basics and disturbances of genomic imprinting	5
Clinical spectrum and management of imprinting disorders	5
A Review of epigenetics in psychiatry: focus on environmental risk factors	4
What can go wrong in the non-coding genome and how to interpret whole genome sequencing data	4
Update on the genetic architecture of schizophrenia	4
Peripheral sensory neuropathies – pain loss vs. pain gain	3
Familial adult myoclonic epilepsy (FAME): clinical features, molecular characteristics, pathophysiological aspects and diagnostic work-up	3
Genetic counseling and the role of genetic counselors in the United States	3
Brain imaging genomics: influences of genomic variability on the structure and function of the human brain	3
Nicht-Direktivität als Leitkategorie in der humangenetischen Beratung in zeithistorischer Betrachtung	2
The future role of facial image analysis in ACMG classification guidelines	2
Molecular testing for imprinting disorders	2
Insights into the genomics of affective disorders	2
Second-tier strategies in newborn screening – potential and limitations	2
From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programs	2
Oral-History-Projekt Humangenetik: Historische Forschungsmethode zur Erhebung und Weiterverarbeitung narrativer Interviews	2
Clinical genetic testing and counselling in autism spectrum disorder	2
Emerging role of a systems biology approach to elucidate factors of reduced penetrance: transcriptional changes in THAP1-linked dystonia as an example	2
Carrier testing for autosomal recessive disorders: a look at current practice in Germany	2

Usher syndrome: diagnostic approach, differential diagnoses and proposal of an updated function-based genetic classification	2
X-linked dystonia-parkinsonism: over and above a repeat disorder	2
Male-pattern hair loss: Comprehensive identification of the associated genes as a basis for understanding pathophysiology	2
Developmental and epileptic encephalopathies – therapeutic consequences of genetic testing	2
Genetic counseling and diagnostic guidelines for couples with infertility and/or recurrent miscarriage	1
Gene therapy as a possible option to treat hereditary hearing loss	1
Non-invasive prenatal testing: when results suggests maternal cancer	1
Novel sequencing technologies and bioinformatic tools for deciphering the non-coding genome	1
Clinical application of circulating tumor cells	1
Grundlagen und aktueller Stand des Neugeborenen-Screenings auf angeborene Störungen des Stoffwechsels, des Hormon- und Immunsystems in Deutschland	1
The utility of liquid biopsy in clinical genetic diagnosis of cancer and monogenic mosaic disorders	1
Der Weg in die Einheit: Das Fach Humangenetik 1990–1991. Ein Erfahrungsbericht	1
Liquid biopsies and those three little words: finding the perfect match for the MTB	1
Career satisfaction of German human genetics residents	1
Factors influencing reduced penetrance and variable expressivity in X-linked dystonia-parkinsonism	1
S1-Leitlinie: Tumorgenetik – Diagnostik im Kontext maligner Erkrankungen	1
The changing face of circulating tumor DNA (ctDNA) profiling: Factors that shape the landscape of methodologies, technologies, and commercialization	1
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): from clinical diagnosis towards genetic testing	1
Prospects and challenges for the genetic counsellor profession in the German-speaking countries: report of a workshop	1
Huntington disease update: new insights into the role of repeat instability in disease pathogenesis	1
Über die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa	1
Newborn screening in Germany	1
Polygenic risk scores in epilepsy	1
Geschichtsbewusstsein und historische Verantwortung in der deutschen Humangenetik	1
Technologies for profiling the impact of genomic variants on transcription factor binding	1
Novel strategies to cure imprinting disorders	1
GC-rich repeat expansions: associated disorders and mechanisms	1
Nachruf Gebhard Flatz (1925–2019)	1
Einladung zum Syndromtag 2023 in Aachen vom 22.–23. September	1
New insights from genetic studies of eczema	1
Telemedicine – chances and challenges for medical genetics in Germany	1
Public data sources for regulatory genomic features	1
10 Jahre Gendiagnostikgesetz – wie kann die Vernichtungspflicht für Ergebnisse genetischer Analysen und Untersuchungen praktisch umgesetzt werden?	1
Liquid biopsy-based early tumor and minimal residual disease detection: New perspectives for cancer predisposition syndromes	1
Editorial – Diagnostic genome sequencing in rare disorders	1
Monogenetic epilepsies and how to approach them in 2022	1
Die Humangenetische Beratung in der DDR	1
Single-cell sequencing: promises and challenges for human genetics	1
Tandem repeat expansions: the good, the bad and the hidden	1