R. Buchert

发表

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

M. Nöthen, A. Munnich, T. Strom, 2011, American journal of human genetics.

Reduction of striatal glucose metabolism in McLeod choreoacanthocytosis

A. Danek, M. Oechsner, R. Buchert, 2001, Journal of neurology, neurosurgery, and psychiatry.

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2021, medRxiv.

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

M. Sturm, O. Riess, R. Buchert, 2018, Acta Neuropathologica Communications.

Berlin Heart EXCOR-System

M. Weyand, R. Buchert, L. Hakami, 2003 .

CCDC82 frameshift mutation associated with intellectual disability, spastic paraparesis, and dysmorphic features

I. Harting, A. Gutschalk, T. Haack, 2022, Clinical genetics.

Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant

W. Chung, O. Riess, H. Galehdari, 2018, Neurological Sciences.

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.

S. Mane, T. Nägele, T. Meitinger, 2020, American journal of human genetics.

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

D. Horn, R. Siebert, G. Kristiansen, 2021, Journal of Medical Genetics.

Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Küster-Hauser Syndrome

O. Kohlbacher, M. Sturm, R. Buchert, 2022, Journal of clinical medicine.

Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.

R. Abou Jamra, H. Sticht, A. Reis, 2017, American journal of human genetics.

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.

A. Ekici, R. Abou Jamra, F. Bernier, 2014, American journal of human genetics.

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

I. Scheffer, H. Mefford, E. Zackai, 2018, American journal of human genetics.

Two cases of variant late infantile ceroid lipofuscinosis in Jordan

O. Riess, R. Buchert, O. Nafi, 2019, World journal of clinical cases.

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.

M. Nöthen, N. Tommerup, Y. Mang, 2013, American journal of human genetics.

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2022, Nature Communications.

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

Heinrich Sticht, Avni Santani, Livija Medne, 2016, Orphanet Journal of Rare Diseases.

Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?

S. Groeschel, I. Krägeloh-Mann, M. Sturm, 2020, European journal of medical genetics.

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

B. Fakler, Sami Boudkkazi, C. Bole-Feysot, 2017, Nature Communications.

Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority

P. Bauer, L. Schöls, A. Azem, 2020, European Journal of Human Genetics.

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

T. Strom, A. Ekici, M. Reuter, 2017, JAMA psychiatry.

Genetic basis of neurodevelopmental disorders in 103 Jordanian families

P. Bauer, M. Sturm, O. Riess, 2020, Clinical genetics.

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.

J. Vincent, M. Rafiq, H. Sticht, 2015, Human molecular genetics.

Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy

M. Aigner, H. Sticht, A. Reis, 2014, PLoS genetics.

Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome

C. Schroeder, M. Sturm, S. Ossowski, 2023, Molecular genetics & genomic medicine.

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

P. Bauer, L. Schöls, M. Sturm, 2020, European Journal of Human Genetics.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Vladimir S Fonov, Undiagnosed Diseases Network, C. Saunders, 2022, medRxiv.

Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.

S. Scherer, C. Marshall, P. Bauer, 2016, American journal of human genetics.

Bain type of X‐linked syndromic mental retardation in boys

T. Haack, E. Mayatepek, F. Distelmaier, 2019, Clinical genetics.

Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential

F. Feuerhake, M. Synofzik, T. Haack, 2021, Neuropediatrics.

Integration moderner Lehrmethoden in den Humangenetik-Unterricht in Tübingen

R. Buchert, Thorsten Schmidt, Ulrike Mau-Holzmann, 2019, medizinische genetik.

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

Nicolas A. Dumont, K. Kandaswamy, T. Strom, 2019, Genetics in Medicine.

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

G. Vasco, S. Groeschel, A. Caglayan, 2021, Journal of Medical Genetics.

GlyT1 encephalopathy: Characterization of presumably disease causing GlyT1 mutations

U. Grasshoff, R. Buchert, L. Frauenfeld, 2020, Neurochemistry International.

Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability

R. Abou Jamra, H. Sticht, A. Reis, 2015, Human mutation.

Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.

A. Ekici, R. Abou Jamra, A. Reis, 2013, European journal of medical genetics.

Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority

P. Bauer, L. Schöls, A. Azem, 2020, European Journal of Human Genetics.

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

M. Sturm, O. Riess, R. Buchert, 2018, Acta neuropathologica communications.

Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients

C. Schroeder, M. Sturm, A. Dufke, 2023, European Journal of Human Genetics.

Isolated PREPL deficiency associated with congenital myasthenic syndrome-22

D. Wieczorek, M. Sturm, T. Haack, 2018, Klinische Pädiatrie.

Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.

S. Scherer, C. Marshall, P. Bauer, 2016, American journal of human genetics.

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.

M. Rafiq, H. Sticht, A. Reis, 2015, Human Molecular Genetics.

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

M. Nöthen, A. Munnich, T. Strom, 2011, American journal of human genetics.

Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability

R. Abou Jamra, H. Sticht, A. Reis, 2015, Human Mutation.

A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.

P. Striano, F. Zara, M. Severino, 2023, Pediatric neurology.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Rebecca C. Spillmann, Thomas M. Durcan, Vladimir S Fonov, 2024, Nature communications.

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations

Tzung-Chien Hsieh, S. Efthymiou, R. Maroofian, 2024, Brain : a journal of neurology.