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Guntram Borck

Guntram Borck

D-Index & Metrics

Genetics

D-Index
45
Citations
8776
World Ranking
4220
National Ranking
282

Overview

Guntram Borck is affiliated with the University of Ulm in Germany. Their research spans several areas primarily within medicine and biochemistry, genetics, and molecular biology, with a significant focus on genetics, psychiatry, mental health, and neurology.

Their scholarly output addresses major topics such as migraine and headache studies, genetics and neurodevelopmental disorders, genomics and rare diseases, neuroscience of respiration and sleep, cerebral venous sinus thrombosis, ophthalmology and eye disorders, and cardiovascular syncope and autonomic disorders.

Key frequent co-authors collaborating with Borck include Terho Lehtimäki, Eija Hämäläinen, Padhraig Gormley, Verneri Anttila, and Bendik S. Winsvold.

They have published in several notable journals, with recent contributions in the following venues:

  • International Journal of Epidemiology
  • Nature Communications
  • Movement Disorders
  • Brain
  • Molecular Psychiatry

Some of their recent papers include:

  • "Cross-trait analyses with migraine reveal widespread pleiotropy and suggest a vascular component to migraine headache," 2020, International Journal of Epidemiology
  • "A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine," 2020, Nature Communications
  • "Quality of Life After Deep Brain Stimulation of Pediatric Patients with Dyskinetic Cerebral Palsy: A Prospective, Single-Arm, Multicenter Study with a Subsequent Randomized Double-Blind Crossover (STIM-CP)," 2021, Movement Disorders
  • "Elucidating the relationship between migraine risk and brain structure using genetic data," 2022, Brain
  • "The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc," 2020, Molecular Psychiatry

Best Publications

  • Analysis of shared heritability in common disorders of the brain

    Verneri Anttila;Verneri Anttila;Brendan Bulik-Sullivan;Brendan Bulik-Sullivan;Hilary K. Finucane;Raymond K. Walters;Raymond K. Walters

  • Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

    Padhraig Gormley;Verneri Anttila;Verneri Anttila;Bendik S. Winsvold;Bendik S. Winsvold;Priit Palta

  • Genome-wide meta-analysis identifies new susceptibility loci for migraine

    Verneri Anttila;Bendik S. Winsvold;Bendik S. Winsvold;Padhraig Gormley;Tobias Kurth

  • Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

    Rami Abou Jamra;Orianne Philippe;Annick Raas-Rothschild;Sebastian H. Eck

  • Hot-spot KIF5A mutations cause familial ALS

    David Brenner;Rüstem Yilmaz;Kathrin Müller;Torsten Grehl

  • Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer

    Karin Kast;Karin Kast;Kerstin Rhiem;Barbara Wappenschmidt;Eric Hahnen

  • Cerebral small vessel disease genomics and its implications across the lifespan

    Muralidharan Sargurupremraj;Hideaki Suzuki;Hideaki Suzuki;Xueqiu Jian;Xueqiu Jian;Chloé Sarnowski

  • Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

    Jennifer J Johnston;Jasper J van der Smagt;Jill A Rosenfeld;Alistair T Pagnamenta

  • Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

    Joanne Ng;Joanne Ng;Juan Zhen;Esther Meyer;Kevin Erreger

  • A mutation screen in patients with Kabuki syndrome

    Yun Li;Nina Bögershausen;Yasemin Alanay;Pelin Özlem Simsek Kiper

  • NEK1 mutations in familial amyotrophic lateral sclerosis.

    David Brenner;Kathrin Müller;Thomas Wieland;Patrick Weydt

  • Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

    J. Wirth;H.G. Nothwang;S.M. van der Maarel;C. Menzel

  • Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

    Guntram Borck;Atteeq Ur Rehman;Atteeq Ur Rehman;Kwanghyuk Lee;Hans Martin Pogoda

  • Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

    Mark T Handley;Deborah J Morris-Rosendahl;Stephen Brown;Fiona Macdonald

  • Molecular analysis of pericentrin gene ( PCNT ) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

    M. Willems;D Geneviève;G Borck;Clarisse Baumann

  • BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

    Guntram Borck;Friederike Hög;Maria Lisa Dentici;Perciliz L. Tan

  • NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome

    G Borck;R Redon;D Sanlaville;M Rio

  • Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

    Elisabeth Mangold;Anne C. Böhmer;Nina Ishorst;Ann-Kathrin Hoebel

  • Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

    Lina Basel-Vanagaite;Bruno Dallapiccola;Ramiro Ramirez-Solis;Alexandra Segref

  • Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations†‡

    Guntram Borck;Mohamed Zarhrate;Jean-Paul Bonnefont;Arnold Munnich

Frequent Co-Authors

Christian Kubisch
Christian Kubisch Universität Hamburg
Jaakko Kaprio
Jaakko Kaprio University of Helsinki
Kari Stefansson
Kari Stefansson deCODE Genetics (Iceland)
Mark J. Daly
Mark J. Daly Massachusetts General Hospital
Aarno Palotie
Aarno Palotie University of Helsinki
Benjamin M. Neale
Benjamin M. Neale Harvard University
Arnold Munnich
Arnold Munnich Necker-Enfants Malades Hospital
Daniel I. Chasman
Daniel I. Chasman Brigham and Women's Hospital
Thomas Werge
Thomas Werge University of Copenhagen

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