T. Strom

T. Wieland, T. Strom, I. Kurth, 2016, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction

T. Strom, D. Wieczorek, E. Watrin, 2016, Clinical genetics.

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.

Marc N. Offman, A. Peters, B. Rost, 2011, American journal of human genetics.

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

M. Baumgartner, T. Wieland, T. Meitinger, 2012, American journal of human genetics.

Combination of high-performance liquid chromatography and radioimmunoassay for the measurement of urodilatin and alpha-hANP in the urine of healthy males.

T. Strom, A. Solcova, C. Döhlemann, 1991, Life sciences.

Atrial natriuretic peptide in term newborn infants

T. Strom, R. Gerzer, M. Brügmann, 1989 .

Binding sites for atrial natriuretic peptide on platelets in patients with congestive cardiomyopathy

T. Strom, R. Gerzer, K. Stangl, 1988, European journal of clinical investigation.

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb

T. Meitinger, T. Strom, T. Haack, 2017, European Journal of Human Genetics.

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

C. Cremers, T. Strom, A. D. den Hollander, 2007, Human mutation.

Effects of a bolus dose of atrial natriuretic factor in young and elderly volunteers

T. Strom, R. Gerzer, J. Heim, 1989, European journal of clinical investigation.

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration.

T. Meitinger, T. Strom, H. Prokisch, 2016, Brain : a journal of neurology.

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.

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

Robert W. Taylor, T. Wieland, I. Harting, 2016, Journal of Inherited Metabolic Disease.

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

T. Meitinger, T. Strom, H. Prokisch, 2015, European Journal of Human Genetics.

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

T. Meitinger, T. Strom, P. Andersen, 2014 .

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

T. Meitinger, T. Strom, P. Andersen, 2014, Brain : a journal of neurology.

Novel (ovario) leukodystrophy related to AARS2 mutations

A. Vanderver, R. Schiffmann, T. Meitinger, 2014, Neurology.

A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke

Á. Chamorro, T. Strom, Á. Cervera, 2020, Journal of Neurology.

First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing

T. Strom, U. Felbor, U. Sure, 2017, neurogenetics.

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis

T. Strom, C. Baumgartner, F. Leutmezer, 2009, neurogenetics.

A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets

A. Poustka, T. Meitinger, T. Strom, 1995, Nature Genetics.

Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1

T. Strom, E. Steichen‐Gersdorf, B. Lorenz-Depiereux, 2015, Journal of pediatric endocrinology & metabolism : JPEM.

New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice

T. Strom, K. Johnson, M. Davisson, 2004, Mammalian Genome.

Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.

X. Estivill, T. Meitinger, T. Strom, 2001, Molecular genetics and metabolism.

Mechanisms of action of atrial natriuretic factor: clinical consequences.

T. Strom, R. Gerzer, J. Weil, 1986, Klinische Wochenschrift.

Identification of a Functional PDE5A Variant at the Chromosome 4q27 Coronary Artery Disease Locus in an Extended Myocardial Infarction Family.

J. Erdmann, T. Meitinger, T. Strom, 2021, Circulation.

CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism

T. Strom, M. Polak, P. Lory, 2016, EBioMedicine.

PRKACA Somatic Mutations Are Rare Findings in Aldosterone-Producing Adenomas.

T. Strom, T. Schwarzmayr, F. Beuschlein, 2016, The Journal of clinical endocrinology and metabolism.

KCNJ5 Mutations in European Families With Nonglucocorticoid Remediable Familial Hyperaldosteronism

T. Strom, F. Beuschlein, X. Jeunemaître, 2012, Hypertension.

TBX3 and TBX5 duplication: a family with an atypical overlapping Holt-Oram/Ulnar-Mammary syndrome phenotype.

T. Strom, E. Thomas, M. Hempel, 2021, European journal of medical genetics.

Viable EdnraY129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation

Gerhard K. H. Przemeck, H. Fuchs, E. Wolf, 2016, Mammalian Genome.

The Autosomal Dominant Hypophosphatemic Rickets (ADHR) Gene Is a Secreted Polypeptide Overexpressed by Tumors that Cause Phosphate Wasting

T. Spector, T. Meitinger, T. Strom, 2001 .

Platelet receptors for atrial natriuretic peptide in man.

T. Strom, F. Bidlingmaier, J. Weil, 1987, Life sciences.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

T. Meitinger, T. Strom, H. Prokisch, 2017 .

Clonal Hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.

T. Meitinger, T. Strom, K. Götze, 2022, Human molecular genetics.

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

V. Mootha, G. Comi, M. Minczuk, 2013, Nature Genetics.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency

T. Wieland, A. Munnich, H. Smeets, 2018 .

Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies

T. Strom, D. Lessel, M. Philipp, 2017, Human Genetics.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy

T. Strom, A. Blaschek, B. Dräger, 2018, Human Genetics.

Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant.

T. Wieland, T. Meitinger, T. Strom, 2016, Brain : a journal of neurology.

Hot-spot KIF5A mutations cause familial ALS

H. Braak, T. Meitinger, T. Strom, 2018, Brain : a journal of neurology.

Systemic Jak1 activation provokes hepatic inflammation and imbalanced FGF23 production and cleavage

T. Strom, G. Rogler, M. D. de Angelis, 2021, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures

T. Strom, T. Schwarzmayr, G. Gillessen‐kaesbach, 2014, American journal of medical genetics. Part A.

Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease

T. Strom, U. Felbor, G. Hoffmann, 2017, Journal of the Neurological Sciences.

Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes

T. Meitinger, T. Strom, T. Haack, 2017, Journal of Genetics.

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

D. Bonthron, T. Wieland, T. Strom, 2015, Journal of Medical Genetics.

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.

T. Meitinger, T. Strom, H. Prokisch, 2016, Journal of hepatology.

New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis

H. Fuchs, E. Wolf, T. Strom, 2012, Mammalian Genome.

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

T. Strom, M. Zeviani, H. Prokisch, 2009, Nature Genetics.

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

T. Meitinger, T. Strom, H. Prokisch, 2013, Journal of Inherited Metabolic Disease.

Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage

T. Wieland, T. Meitinger, T. Strom, 2013, BMC Genomics.

Human RAD50 deficiency: Confirmation of a distinctive phenotype

T. Strom, T. Dörk, G. Mancini, 2020, American Journal of Medical Genetics. Part A.

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

P. Orlik, T. Strom, B. Lorenz-Depiereux, 2005, Human molecular genetics.

A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India.

T. Strom, Shruti Gupta, R. Srinivasan, 2021, Intractable & rare diseases research.

Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2

Andreas Fregin, T. Strom, E. Seifried, 2004, Nature.

Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype.

T. Strom, F. Asmus, T. Gasser, 2007, Brain : a journal of neurology.

Diagnostic exome sequencing in early‐onset Parkinson's disease confirms VPS13C as a rare cause of autosomal‐recessive Parkinson's disease

T. Strom, E. Růžička, B. Haslinger, 2018, Clinical genetics.

Estrone and estradiol concentrations in human ovaries, testes, and adrenals during the first two years of life.

T. Strom, H. Dörr, W. Eisenmenger, 1987, The Journal of clinical endocrinology and metabolism.

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.

T. Strom, E. Pataraia, A. Brice, 2013, Brain : a journal of neurology.

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

R. Pfundt, T. Strom, H. Brunner, 2016, Nature Genetics.

Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

T. Meitinger, T. Strom, H. Prokisch, 2014, Brain : a journal of neurology.

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

T. Meitinger, T. Strom, H. Prokisch, 2020, EBioMedicine.

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

T. Meitinger, T. Strom, K. White, 2000, Nature Genetics.

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.

T. Meitinger, T. Strom, A. D. den Hollander, 2006, American journal of human genetics.

Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery

T. Meitinger, T. Strom, K. Flisikowski, 2009, Genome Biology.

Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy

T. Wieland, T. Meitinger, T. Strom, 2017, Circulation. Cardiovascular genetics.

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

A. Monaco, T. Meitinger, T. Strom, 1994, Nature.

Pollen of common ragweed (Ambrosia artemisiifolia L.): Illumina-based de novo sequencing and differential transcript expression upon elevated NO2/O3.

T. Strom, J. Durner, D. Ernst, 2017, Environmental pollution.

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

Lin Jun, Peter Marynen, Mark T. Ross, 1999, Nature Genetics.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

T. Meitinger, T. Strom, H. Prokisch, 2015, American journal of human genetics.

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

Robert W. Taylor, Aaron R D'Souza, M. Minczuk, 2015, American journal of human genetics.

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.

Robert W. Taylor, M. Minczuk, T. Wieland, 2013, American journal of human genetics.

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.

T. Meitinger, T. Strom, M. Zeviani, 2012, American journal of human genetics.

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

T. Meitinger, T. Strom, H. Prokisch, 2017, Oxidative medicine and cellular longevity.

Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome

T. Meitinger, T. Strom, D. Berg, 2001, Nature Genetics.

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.

T. Meitinger, T. Strom, D. Berg, 2001, Nature genetics.

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

Marni J. Falk, T. Wieland, T. Meitinger, 2013, American journal of human genetics.

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

Thomas Meitinger, Guy Lenaers, Patrizia Amati-Bonneau, 2016, American journal of human genetics.

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.

T. Meitinger, T. Strom, C. Scharfe, 1998, Human molecular genetics.

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

R. Pfundt, B. D. de Vries, E. Eichler, 2016, Human Genetics.

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.

A. Jauch, T. Meitinger, T. Strom, 2011, European journal of medical genetics.

Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

T. Wieland, T. Strom, H. Prokisch, 2016, European Journal of Human Genetics.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

M. Brown, S. Robertson, T. Strom, 2016, American journal of human genetics.

De novo variants in neurodevelopmental disorders—experiences from a tertiary care center

T. Meitinger, T. Strom, R. Jech, 2021, Clinical genetics.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

T. Wieland, T. Strom, J. Veltman, 2014, Human Genetics.

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

T. Meitinger, T. Strom, A. Rosenthal, 1998, Nature Genetics.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, Genome Medicine.

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

T. Wieland, T. Meitinger, T. Strom, 2015, Nature Neuroscience.

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

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

An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics

Fabian J Theis, M. Mann, L. Simon, 2018, bioRxiv.

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

S. Jacobson, T. Strom, T. Rosenberg, 2016, PloS one.

The Identification of Disease Genes in a Candidate Region

T. Strom, F. Francis, 2000 .

Identi ﬁ cation and characterization of distinct brown adipocyte subtypes in C57BL/6J mice

Fabian J Theis, David S. Fischer, A. Feuchtinger, 2022 .

Nine newly identified individuals refine the phenotype associated with MYT1L mutations

T. Strom, D. Wieczorek, D. Lessel, 2020, American journal of medical genetics. Part A.

Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Andreas C. Themistocleous, I. Katona, T. Wieland, 2015, Nature Genetics.

Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in GLE1

D. Nickerson, T. Strom, M. Bamshad, 2017, bioRxiv.

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

C. Klaver, T. Strom, S. Nabuurs, 2009, American journal of human genetics.

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.

T. Meitinger, T. Strom, H. Lehrach, 1997, Genome research.

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.

V. Liebscher, T. Meitinger, T. Strom, 2007, American journal of human genetics.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2

T. Meitinger, T. Strom, D. Wieczorek, 2016, Human mutation.

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

T. Strom, H. Kremer, S. Riazuddin, 2015, European Journal of Human Genetics.

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

W. Poewe, T. Strom, B. Haslinger, 2016, American journal of human genetics.

Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3

T. Strom, U. Felbor, K. Riedel, 2020, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine

T. Strom, M. Dichgans, G. Eckstein, 2005, The Lancet.

Mutations in ATP 6 V 1 E 1 or ATP 6 V 1 A Cause Autosomal-Recessive Cutis Laxa

A. Hoischen, T. Meitinger, T. Strom, 2016 .

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction

T. Wieland, J. Erdmann, C. Hengstenberg, 2015, European Journal of Human Genetics.

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

T. Wieland, T. Strom, A. Schlessinger, 2014, European Journal of Human Genetics.

Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse

A. Ciccodicola, M. D'urso, T. Meitinger, 1998, European Journal of Human Genetics.

Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing

W. Poewe, T. Strom, E. Růžička, 2017, neurogenetics.

Bi-allelic truncating mutations in VWA1 cause neuromyopathy.

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

Landscape of somatic mutations in sporadic GH-secreting pituitary adenomas.

T. Strom, J. Honegger, T. Schwarzmayr, 2016, European journal of endocrinology.

Development of A Cell-Based Assay to Identify Small Molecule Inhibitors of FGF23 Signaling.

T. Strom, Kenji Schorpp, K. Hadian, 2015, Assay and drug development technologies.

Common genetic variants associate with serum phosphorus concentration.

C. Gieger, A. Hofman, A. Uitterlinden, 2010, Journal of the American Society of Nephrology : JASN.

PHEX, FGF23, DMP1 and beyond

T. Strom, H. Jüppner, 2008, Current opinion in nephrology and hypertension.

Polypeptide GalNAc-transferase T3 and Familial Tumoral Calcinosis

T. Strom, Kentaro Kato, E. Bennett, 2006, Journal of Biological Chemistry.

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

T. Strom, G. Eckstein, P. Lichtner, 2006, American journal of human genetics.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

T. Wieland, T. Strom, D. Wieczorek, 2015, Human Genetics.

Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID

T. Wieland, T. Strom, D. Wieczorek, 2017, European Journal of Human Genetics.

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.

T. Meitinger, T. Strom, P. Lichtner, 2020, American journal of human genetics.

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

T. Wieland, T. Strom, D. Lowenstein, 2017, Human Genetics.

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

T. Wieland, T. Meitinger, T. Strom, 2012, Journal of Inherited Metabolic Disease.

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Victoria E. Jackson, I. Scheffer, T. Strom, 2019, Genetics in Medicine.

Comprehensive analysis of the mutation spectrum in 301 German ALS families

S. Klebe, T. Meitinger, T. Strom, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Genomic factors related to tissue tropism in Chlamydia pneumoniae infection

T. Strom, K. Shima, T. Rattei, 2015, BMC Genomics.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

L. Vissers, T. Wieland, T. Strom, 2014, Human Genetics.

Clinical exome sequencing in early‐onset generalized dystonia and large‐scale resequencing follow‐up

T. Wieland, W. Poewe, T. Strom, 2017, Movement disorders : official journal of the Movement Disorder Society.

Compound heterozygous SPATA 5 variants in four families and functional studies of SPATA 5 de fi ciency

T. Meitinger, T. Strom, R. Rodenburg, 2019 .

Dysfunctional nitric oxide signalling increases risk of myocardial infarction

M. Nöthen, J. Ott, N. Samani, 2013, Nature.

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

M. Polymeropoulos, T. Meitinger, T. Strom, 2000, Nature Genetics.

Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia

Gerhard K. H. Przemeck, H. Fuchs, T. Wieland, 2016, Mammalian Genome.

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

Christian Gilissen, Alexander Hoischen, Tomoko Tahira, 2013, Proceedings of the National Academy of Sciences.

An ENU mutagenesis-derived mouse model with a dominant Jak1 mutation resembling phenotypes of systemic autoimmune disease.

H. Fuchs, D. Busch, H. Höfler, 2013, The American journal of pathology.

Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment

T. Strom, J. Beygo, K. Buiting, 2019, European Journal of Human Genetics.

A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome

R. Siebert, T. Strom, B. Horsthemke, 2016, European Journal of Human Genetics.

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

M. Elstner, T. Meitinger, T. Strom, 2011, American journal of human genetics.

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations

T. Wieland, T. Strom, D. Wieczorek, 2017, American journal of medical genetics. Part A.

A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures

T. Meitinger, H. Wichmann, T. Strom, 2009, Neurology.

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

T. Strom, J. Veltman, R. Roepman, 2007, Nature Genetics.

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

P. Svenningsson, T. Meitinger, T. Strom, 2016, American journal of human genetics.

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

M. Waldenberger, T. Wieland, T. Meitinger, 2014, American journal of human genetics.

A High Resolution Genome-Wide Scan for Significant Selective Sweeps: An Application to Pooled Sequence Data in Laying Chickens

D. Gianola, T. Strom, D. Burt, 2012, PloS one.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits

A. Monaco, D. Horn, T. Strom, 2010, Human mutation.

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

T. Strom, K. Bushby, Jacqueline A Palace, 2011, American journal of human genetics.

The genomic landscape of hepatoblastoma and their progenies with HCC-like features.

T. Strom, S. Cairo, T. Schwarzmayr, 2014, Journal of hepatology.

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

T. Strom, D. Wieczorek, E. Watrin, 2017, Human Genetics.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

T. Wieland, T. Strom, D. Wieczorek, 2015, Human Genetics.

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.

C. Delacourt, T. Wieland, T. Meitinger, 2015, American journal of human genetics.

Classic Selective Sweeps Revealed by Massive Sequencing in Cattle

R. Nielsen, T. Strom, M. Somel, 2014, PLoS genetics.

CpG-Methylation Regulates a Class of Epstein-Barr Virus Promoters

T. Strom, W. Hammerschmidt, U. Rothbauer, 2010, PLoS pathogens.

Maintenance of epithelial traits and resistance to mesenchymal reprogramming promote proliferation in metastatic breast cancer

A. Schneeweiss, S. Haas, A. Trumpp, 2020, bioRxiv.

Microdeletion syndrome 16p11.2‐p12.2: Clinical and molecular characterization

T. Meitinger, T. Strom, M. Hempel, 2009, American journal of medical genetics. Part A.

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

T. Meitinger, T. Strom, A. F. Stewart, 2015, The Journal of clinical investigation.

Clinical findings in patients with RAP 1 A / RAP 1 B mutations Symptom Frequency in KSA RAP 1 A patient RAP 1

T. Meitinger, T. Strom, A. F. Stewart, 2015 .

Analysis of an interstitial deletion in a patient with Kallmann syndrome, X‐linked ichthyosis and mental retardation

T. Meitinger, T. Strom, H. Dörr, 1998, Clinical genetics.

CRIM1 haploinsufficiency causes defects in eye development in human and mouse.

Thomas Meitinger, Bernd Wollnik, T. Wieland, 2015, Human molecular genetics.

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

A. Hoischen, T. Strom, J. Veltman, 2010, American journal of human genetics.

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping

T. Strom, A. D. den Hollander, F. Cremers, 2011, Molecular vision.

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.

B. J. Klevering, J. Hehir-Kwa, T. Strom, 2011, Investigative ophthalmology & visual science.

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

C. Blackstone, T. Strom, J. Zidar, 2011, American journal of human genetics.

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.

T. Strom, T. Schwarzmayr, E. Watrin, 2020, Cell reports.

MAU2 and NIPBL variants in Cornelia de Lange syndrome reveal MAU2-independent loading of cohesin and uncover a protective mechanism against early truncating mutations in NIPBL

T. Strom, T. Schwarzmayr, E. Watrin, 2018, bioRxiv.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Rachel L. Taylor, R. Pfundt, M. Reijnders, 2018, American journal of human genetics.

KMT2B rare missense variants in generalized dystonia

T. Strom, E. Růžička, R. Jech, 2017, Movement disorders : official journal of the Movement Disorder Society.

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.

Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype

T. Strom, M. Hempel, B. Neubauer, 2008, American journal of medical genetics. Part A.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

R. Pfundt, T. Strom, D. Wieczorek, 2015, Human 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.

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

T. Strom, J. Clayton-Smith, A. Ekici, 2018, American journal of human genetics.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Eric N. Anderson, T. Strom, J. Landers, 2021, Nature Communications.

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges

T. Wieland, T. Strom, V. Timmerman, 2014, Journal of Neurology.

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

Vicente A. Yépez, J. Gagneur, T. Meitinger, 2021, medRxiv.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Thomas Meitinger, Julien Gagneur, Holger Prokisch, 2015, American journal of human genetics.

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Andreas Roos, Francesco Muntoni, Rita Barresi, 2017, American journal of human genetics.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

T. Meitinger, T. Strom, H. Prokisch, 2016, Neuropediatrics.

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

M. Carl, I. Harting, T. Meitinger, 2016, American journal of human genetics.

MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities

T. Meitinger, T. Strom, H. Prokisch, 2015, neurogenetics.

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.

Fabian Grubert, T. Wieland, A. Urban, 2012, Human molecular genetics.

A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation

T. Meitinger, T. Strom, A. Blaschek, 2017, Movement disorders : official journal of the Movement Disorder Society.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

R. Durbin, T. Meitinger, T. Strom, 2016, American journal of human genetics.

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

J. Hehir-Kwa, T. Meitinger, T. Strom, 2007, Investigative ophthalmology & visual science.

Rescue of STAT3 Function in Hyper-IgE Syndrome Using Adenine Base Editing.

T. Meitinger, T. Strom, T. Volz, 2021, The CRISPR journal.

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

T. Meitinger, T. Strom, H. Prokisch, 2018, Neuropediatrics.

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

T. Strom, A. Ekici, M. Nothnagel, 2018, European Journal of Human Genetics.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy

T. Strom, A. Blaschek, B. Dräger, 2018, Human Genetics.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach

T. Meitinger, T. Strom, F. Zimprich, 2019, European journal of neurology.

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

T. Meitinger, T. Strom, R. Rodenburg, 2018, European Journal of Human Genetics.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, medRxiv.

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

T. Strom, H. Prokisch, P. Charbel Issa, 2021, The Journal of clinical investigation.

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum

T. Strom, K. Schmetterer, F. Zimprich, 2017, Journal of Neurology.

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Robert W. Taylor, J. Gagneur, E. Génin, 2016, American journal of human genetics.

BRAIN LETTER TO THE EDITOR Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

T. Meitinger, T. Strom, P. Andersen, 2014 .

Two novel mutations in conserved codons indicate that CHCHD 10 is a gene associated with motor neuron disease

T. Meitinger, T. Strom, P. Andersen, 2014 .

A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder

Robert Jech, Kamila Poláková, Evžen Růžička, 2018, Cold Spring Harbor molecular case studies.

Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease

T. Meitinger, T. Strom, H. Prokisch, 2019, Journal of inherited metabolic disease.

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.

D. MacArthur, M. Hurles, T. Strom, 2013, American journal of human genetics.

Exome Sequencing in Children.

T. Meitinger, T. Strom, F. Kortüm, 2019, Deutsches Arzteblatt international.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Vinodh Narayanan, Christian Kubisch, Dominique Bonneau, 2018, American journal of human genetics.

Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss

H. Fuchs, L. Petrucelli, T. Strom, 2017, Acta Neuropathologica.

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

C. Cremers, T. Strom, H. Kremer, 2008, European Journal of Human Genetics.

Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene

T. Strom, F. Zimprich, T. Haack, 2017, European journal of neurology.

Frequency and clinical correlates of somatic Ying Yang 1 mutations in sporadic insulinomas.

T. Wieland, T. Meitinger, T. Strom, 2015, The Journal of clinical endocrinology and metabolism.

PNPLA 6 seed analysis in more than 500 exomes of index patients with ataxia , hereditary spastic paraplegia and Charcot – Marie – Tooth disease

T. Strom, S. Züchner, H. Prokisch, 2014 .

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.

T. Strom, S. Züchner, H. Prokisch, 2014, Brain : a journal of neurology.

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

Robert W. Taylor, T. Strom, M. Zeviani, 2013, Human mutation.

Evidence for further genetic locus heterogeneity and confirmation of RLS‐1 in restless legs syndrome

T. Meitinger, T. Strom, B. Pütz, 2006, Movement disorders : official journal of the Movement Disorder Society.

Parallel Selection Revealed by Population Sequencing in Chicken

T. Strom, K. Mayer, H. Simianer, 2015, Genome biology and evolution.

Parallel Selection Revealed by Population Sequencing in

T. Strom, S. Qanbari, M. Seidel, 2015 .

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Thomas Meitinger, Nathalie Boddaert, Robert Barouki, 2017, American journal of human genetics.

Functional identity of hypothalamic melanocortin neurons depends on Tbx3

Ilona C. Grunwald Kadow, T. Strom, S. Woods, 2019, Nature Metabolism.

Functional identity of hypothalamic melanocortin neurons depends on Tbx3

Ilona C. Grunwald Kadow, M. Mann, T. Strom, 2019, Nature Metabolism.

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

Colin A. Johnson, E. R. Baumgartner, T. Meitinger, 2016, American journal of human genetics.

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

E. Bertini, T. Meitinger, T. Strom, 2015, American journal of human genetics.

Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

T. Strom, H. Kremer, A. Hussain, 2014, PloS one.

A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.

T. Strom, M. Econs, F. Francis, 1998, The Journal of clinical endocrinology and metabolism.

Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)

A. Pestronk, T. Strom, R. Schmidt, 2017, Human mutation.

TPP2 mutation associated with sterile brain inflammation mimicking MS

T. Wieland, A. Deutschländer, T. Strom, 2018, Neurology: Genetics.

TPP 2 mutation associated with sterile brain in fl ammation mimicking MS

T. Wieland, A. Deutschländer, T. Strom, 2022 .

Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene.

T. Meitinger, T. Strom, H. Lehrach, 1998, Human molecular genetics.

Overexpression of UHRF1 promotes silencing of tumor suppressor genes and predicts outcome in hepatoblastoma

T. Strom, G. Längst, T. Schwarzmayr, 2018, Clinical Epigenetics.

A gene locus responsible for the familial hair shaft abnormality pili annulati maps to chromosome 12q24.32-24.33.

T. Meitinger, T. Strom, G. Eckstein, 2004, The Journal of investigative dermatology.

The First Scube3 Mutant Mouse Line with Pleiotropic Phenotypic Alterations

Gerhard K. H. Przemeck, H. Fuchs, D. Busch, 2016, G3: Genes, Genomes, Genetics.

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities

T. Meitinger, T. Strom, A. Schulz, 2017, European Journal of Human Genetics.

Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases

T. Meitinger, T. Strom, T. Klopstock, 2022, EBioMedicine.

A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree

K. Lesch, T. Strom, J. Meyer, 2001, Molecular Psychiatry.

A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.

T. Meitinger, T. Strom, J. Kassubek, 2019, Brain : a journal of neurology.

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension

T. Wieland, T. Meitinger, T. Strom, 2013, Nature Genetics.

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

A. Need, D. Smedley, C. Tregidgo, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

T. Strom, B. Gener, T. Schwarzmayr, 2014, Clinical genetics.

X-linked congenital adrenal hypoplasia: new mutations and long-term follow-up in three patients.

T. Strom, H. Wollmann, G. Binder, 2000, Clinical endocrinology.

Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review

I. Harting, T. Strom, V. Kalscheuer, 2020, Clinical genetics.

Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

C. Gieger, A. Peters, T. Wieland, 2015, American journal of human genetics.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.

I. Chowers, T. Strom, A. D. den Hollander, 2010, Investigative ophthalmology & visual science.

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

C. Klaver, T. Strom, A. D. den Hollander, 2010, American journal of human genetics.

Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia

Gerhard K. H. Przemeck, H. Fuchs, T. Wieland, 2016, Mammalian Genome.

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

H. Mefford, J. Gécz, T. Strom, 2018, Human mutation.

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

Thomas J. Jentsch, Maria-Christina Zennaro, Tim M. Strom, 2018, Nature Genetics.

Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.

T. Strom, G. Eckstein, P. Lichtner, 2012, American journal of human genetics.

The Molecular Basis of Hypophosphatemic Rickets

T. Strom, M. Econs, 1999 .

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Robert W. Taylor, R. Durbin, T. Wieland, 2015, Annals of clinical and translational neurology.

A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy

T. Meitinger, T. Strom, C. Baumgartner, 2008, Epilepsia.

Identification and characterization of distinct murine brown adipocyte lineages

Fabian J Theis, David S. Fischer, A. Feuchtinger, 2020, bioRxiv.

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.

Caroline C W Klaver, Klaus Rohrschneider, Susanne Roosing, 2013, American journal of human genetics.

Comparison of Plasma Atrial Natriuretic Peptide Levels in Healthy Children from Birth to Adolescence and in Children with Cardiac Diseases1

T. Strom, F. Bidlingmaier, C. Döhlemann, 1986, Pediatric Research.

Influence of diurnal rhythm, posture and right atrial size on plasma atrial natriuretic peptide levels.

T. Strom, R. Gerzer, J. Heim, 1988, Zeitschrift fur Kardiologie.

Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations

T. Strom, U. Felbor, G. Korenke, 2019, Journal of the Neurological Sciences.

HSJ1-related hereditary neuropathies

T. Strom, S. Rudnik-Schöneborn, A. Schirmacher, 2014, Neurology.

Hereditary motor neuron disease in a large Norwegian family with a “H46R” substitution in the superoxide dismutase 1 gene

T. Strom, T. Holmøy, T. Fagerheim, 2012, Neuromuscular Disorders.

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.

Monogenic variants in dystonia: an exome-wide sequencing study

W. Chung, J. Volkmann, T. Strom, 2020, The Lancet Neurology.

Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy

T. Strom, R. Krüger, A. Kessel, 2020, Scientific Reports.

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations

C Baumgartner, T. Meitinger, T. Strom, 2006, Neurology.

Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes

T. Meitinger, T. Strom, C. Baumgartner, 2006, Neurogenetics.

Driver mutations in USP8 wild-type Cushing’s disease

T. Strom, J. Honegger, G. Assié, 2019, Neuro-oncology.

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

T. Strom, H. Venselaar, R. Maroofian, 2020, Genetics in Medicine.

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

B. J. Klevering, T. Strom, A. D. den Hollander, 2008, American journal of human genetics.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Robert W. Taylor, T. Wieland, A. Munnich, 2018, Orphanet Journal of Rare Diseases.

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

T. Meitinger, T. Strom, H. Prokisch, 2015, neurogenetics.

Erratum to: New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis

H. Fuchs, T. Strom, C. Cohrs, 2014, Mammalian Genome.

The genetic landscape of axonal neuropathies in the middle-aged and elderly

B. Schlotter-Weigel, T. Strom, S. Züchner, 2020, Neurology.

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

T. Meitinger, T. Strom, H. Lehrach, 1997, Human molecular genetics.

Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia.

T. Meitinger, T. Strom, H. Lehrach, 1997, Human molecular genetics.

CAD mutations and uridine-responsive epileptic encephalopathy

T. Meitinger, T. Strom, H. Prokisch, 2017, Brain : a journal of neurology.

Allelic imbalance at intragenic markers of Tbx18 is a hallmark of murine osteosarcoma.

M. Rosemann, T. Strom, L. Quintanilla‐Martinez, 2003, Carcinogenesis.

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Taesung Park, Christian Gieger, Tien Yin Wong, 2017, Scientific Data.

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

Thomas J. Jentsch, Maria-Christina Zennaro, Tim M. Strom, 2018, Nature Genetics.

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Edward L. Huttlin, J. Mullikin, T. Meitinger, 2017, American journal of human genetics.

Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.

T. Strom, R. Jech, B. Haslinger, 2021, Parkinsonism & related disorders.

Comparison among three variant callers and assessment of the accuracy of imputation from SNP array data to whole-genome sequence level in chicken

T. Strom, H. Simianer, C. Reimer, 2015, BMC Genomics.

Mutations in BICD 2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

D. MacArthur, M. Hurles, T. Strom, 2013 .

Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues

T. Strom, M. Econs, A. Hanauer, 1999, European Journal of Human Genetics.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

J. Rosenfeld, I. Krantz, Ankita Patel, 2019, Genetics in Medicine.

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

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

Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing

T. Meitinger, T. Strom, S. Bohlander, 2011, Leukemia.

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum

T. Meitinger, T. Strom, H. Prokisch, 2016, Metabolic Brain Disease.

Mutations in the lipoma HMGIC fusion partner‐like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

C. Cremers, T. Strom, A. D. den Hollander, 2006, Human mutation.

Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment

T. Strom, J. Beygo, K. Buiting, 2019, European Journal of Human Genetics.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

A. Hoischen, T. Meitinger, T. Strom, 2020, American journal of human genetics.

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

T. Strom, C. Kim, H. Venselaar, 2020, Genetics in Medicine.

P4-149 Identification of genetic loci associated with familial frontotemporal dementia

T. Meitinger, T. Strom, G. Binetti, 2004, Neurobiology of Aging.

Rare genetic variants in patients with cervical artery dissection

M. Kloss, T. Strom, S. Engelter, 2019, European stroke journal.

A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease

T. Meitinger, T. Strom, P. Lichtner, 2007, Movement disorders : official journal of the Movement Disorder Society.

A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.

T. Wieland, T. Strom, L. Schöls, 2014, European journal of medical genetics.

Absence of the Autophagy Adaptor SQSTM 1 / p 62 Causes Childhood-Onset Neurodegeneration with Ataxia , Dystonia , and Gaze Palsy Haack

P. Svenningsson, T. Meitinger, T. Strom, 2022 .

Abstract 3086: The genetic landscape of the childhood liver cancer hepatoblastoma

T. Strom, M. Eichenmüller, R. Kappler, 2014 .

MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy

B. Schlotter-Weigel, T. Strom, P. Bauer, 2018, Clinical genetics.

Atrial Natriuretic Peptide in Healthy Children from Birth to Adolescence and in Children with Cardiac Diseases

T. Strom, T. Hedner, J. Hedner, 1986 .

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.

T. Strom, A. D. den Hollander, F. Cremers, 2011, Archives of ophthalmology.

Edinburgh Research Explorer Development of a high density 600K SNP genotyping array for chicken

J. Woolliams, T. Strom, D. Burt, 2022 .

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

E. Zackai, J. Lupski, T. Strom, 2023, Brain : a journal of neurology.

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.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Rebecca C. Spillmann, Denise L. Perry, J. Rosenfeld, 2019, Genetics in Medicine.

Next Month inEpilepsia

T. Meitinger, T. Strom, C. Baumgartner, 2008 .

Development of a high density 600K SNP genotyping array for chicken

J. Woolliams, T. Strom, D. Burt, 2013 .

Explorer Development of a high density 600 K SNP genotyping array for chicken

J. Woolliams, T. Strom, D. Burt, 2017 .

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

T. Meitinger, T. Strom, R. Rodenburg, 2018, European Journal of Human Genetics.

The First Scube3 Mutant Mouse Line with Pleiotropic Phenotypic Alterations

Gerhard K. H. Przemeck, H. Fuchs, D. Busch, 2016, G3: Genes, Genomes, Genetics.

Genotype and Phenotype in an unusual form of Laurence–Moon–Bardet–Biedl syndrome

T. Strom, N. Weisschuh, S. Andreasson, 2016, Acta ophthalmologica.

SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities

W. Poewe, T. Strom, J. Winkelmann, 2017, Case reports in genetics.

Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing

T. Strom, U. Felbor, J. Trenkler, 2018, American journal of medical genetics. Part A.

Plasma atrial natriuretic peptide levels in children with cardiac diseases: correlation with cGMP levels and haemodynamic parameters.

T. Strom, R. Gerzer, W. Sebening, 1987, Hormone research.

Recessive Mutations in the a 3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

C. Gieger, T. Wieland, T. Strom, 2022 .

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.

Fabian Grubert, T. Wieland, A. Urban, 2012, Human molecular genetics.

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

M. Baumgartner, T. Wieland, T. Meitinger, 2012, American journal of human genetics.

KCNJ5 Mutations in European Families With Nonglucocorticoid Remediable Familial Hyperaldosteronism

T. Strom, F. Beuschlein, X. Jeunemaître, 2012, Hypertension.

Dysfunctional nitric oxide signalling increases risk of myocardial infarction

M. Nöthen, J. Ott, N. Samani, 2013, Nature.

Table. Linkage and Mutation Analysis Results of Known Retinal Dystrophy Genes in Pakistani Families

T. Strom, F. Cremers, Ahmed Sadeque, 2017 .

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Ashley R. Jones, F. Baas, 2016, Nature Genetics.

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.

C. Delacourt, T. Wieland, T. Meitinger, 2015, American journal of human genetics.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

R. Pfundt, T. Strom, D. Wieczorek, 2015, American Journal of Human Genetics.

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

T. Strom, D. Lessel, J. Denecke, 2017, European journal of medical genetics.

Prediction of Adipose Browning Capacity by Systematic Integration of Transcriptional Profiles.

T. Strom, A. Hauser, M. Tschöp, 2018, Cell reports.

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

B. J. Klevering, T. Strom, A. D. den Hollander, 2008, American journal of human 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.

Hypophosphatemia, Hyperphosphaturia, and Bisphosphonate Treatment Are Associated With Survival Beyond Infancy in Generalized Arterial Calcification of Infancy

R. Terkeltaub, T. Strom, P. Nürnberg, 2008, Circulation. Cardiovascular genetics.

Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas.

R. Paschke, T. Strom, T. Schwarzmayr, 2016, The Journal of clinical investigation.

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

M. Polymeropoulos, T. Meitinger, T. Strom, 2000, Nature Genetics.

Time- and compartment-resolved proteome profiling of the extracellular niche in lung injury and repair

M. Mann, T. Strom, T. Schwarzmayr, 2015, Molecular systems biology.

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

T. Wieland, T. Meitinger, T. Strom, 2014, Molecular genetics and metabolism.

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

T. Meitinger, T. Strom, H. Prokisch, 2015, neurogenetics.

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

T. Walsh, M. King, M. Tekin, 2014, The New England journal of medicine.

Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage

T. Wieland, T. Meitinger, T. Strom, 2013, BMC Genomics.

A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1.

T. Wieland, T. Strom, D. Fischer, 2014, Brain : a journal of neurology.

Resistance to mesenchymal reprogramming sustains clonal propagation in metastatic breast cancer.

A. Schneeweiss, S. Haas, A. Trumpp, 2023, Cell reports.

Identification of a second major locus for neurodegeneration with brain iron accumulation

M. Elstner, T. Meitinger, T. Strom, 2011 .