T. Haack

M. Ensslen, R. Møller, K. Rostásy, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology 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 .

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.

Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome

L. Vissers, N. Brown, B. D. de Vries, 2021, medRxiv.

Disruption of MeCP2–TCF20 complex underlies distinct neurodevelopmental disorders

H. Zoghbi, A. Burlingame, Zhandong Liu, 2022, Proceedings of the National Academy of Sciences.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, 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.

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

P. Striano, H. Prokisch, Matteo P. Ferla, 2022, Human mutation.

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.

Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data

C. Schroeder, S. Ossowski, T. Haack, 2021, Molecular genetics & genomic medicine.

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

H. Galehdari, T. Frebourg, R. Maroofian, 2020, European journal of medical genetics.

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

L. Vissers, N. Brown, B. D. de Vries, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Robert W. Taylor, I. Harting, T. Meitinger, 2018, Genetics in Medicine.

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

J. Hardy, T. Meitinger, H. Prokisch, 2013, Brain : a journal of neurology.

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

C. Depienne, A. Afenjar, D. Wieczorek, 2023, Frontiers in Cell and Developmental Biology.

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

L. Vissers, A. Hoischen, J. Clayton-Smith, 2021, European Journal of Human Genetics.

Genetic basis of neurodevelopmental disorders in 103 Jordanian families

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

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

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

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

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.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

A. V. Vulto-van Silfhout, D. Baralle, P. Striano, 2022, Genetics in medicine : official journal of the American College of Medical 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.

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

J. Rosenfeld, S. Ellard, F. Alkuraya, 2019, 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.

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.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

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

L. Feuk, B. V. van Bon, R. Pfundt, 2021, Genetics in Medicine.

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

C. Bönnemann, T. Lehky, H. Lochmüller, 2020, American journal of medical genetics. Part A.

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

J. Gécz, W. Chung, H. Hakonarson, 2021, American journal of human genetics.

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.

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

A. Pagnamenta, J. Lupski, T. Nägele, 2021, American journal of human genetics.

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.

T. Meitinger, I. Krägeloh-Mann, R. Płoski, 2020, Brain : a journal of neurology.

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.

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Robert W. Taylor, H. Prokisch, M. Simpson, 2017, neurogenetics.

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.

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

Exome Sequencing in Children.

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

Recognizable pattern of arthrogryposis and congenital myopathy caused by the recurrent TTN metatranscript-only c.39974-11T>G splice variant.

D. Horn, C. Bönnemann, T. Haack, 2022, Neuropediatrics.

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.

H. Hakonarson, C. Siao, E. Puffenberger, 2017, American 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.

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.

The genotypic and phenotypic spectrum of MTO1 deficiency

Robert W. Taylor, C. Ross, W. Wasserman, 2018, Molecular genetics and metabolism.

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.

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.

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

Robert W. Taylor, W. Chung, H. Prokisch, 2017, Annals of neurology.

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.

Delineating MT-ATP6-associated disease

Marni J. Falk, R. Ganetzky, H. Prokisch, 2020, Neurology. Genetics.

MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention.

W. Wurst, H. Prokisch, M. D. de Angelis, 2015, Human molecular 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.

Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome

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

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.

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Robert W. Taylor, T. Meitinger, S. Seneca, 2015, Front. Genet..

Diffuse hypomyelination is not obligate for POLR3-related disorders

A. Vanderver, D. Timmann, T. Haack, 2016, Neurology.

Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay

Michael S. Cohen, T. Haack, G. Bellus, 2021, Cells.

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.

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.

Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation

H. Prokisch, B. Hemmer, J. Winkelmann, 2013, Movement disorders : official journal of the Movement Disorder Society.

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis

H. Prokisch, T. Haack, C. Gaul, 2012, Journal of Neurology.

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.

H. Prokisch, U. Löbel, T. Haack, 2017, Mitochondrion.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, J. Rosenfeld, R. Pfundt, 2022, Molecular Psychiatry.

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.

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

T. Haack, S. Grünert, L. Hannibal, 2021, Diagnostics.

Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process

T. Haack, U. Schara, A. Roos, 2021, Molecular genetics & genomic medicine.

DENND5A epileptic encephalopathy features global developmental delay, seizures and ventriculomegaly

Undiagnosed Diseases Network, C. Saunders, V. Fonov, 2022, medRxiv.

Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia

M. Sturm, S. Paus, S. Ossowski, 2021, Neurology: Genetics.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European 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.

Bain type of X‐linked syndromic mental retardation in boys

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

From isolated neuropathy to early onset neurodegeneration

R. Ganetzky, H. Prokisch, L. Schöls, 2022 .

Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder

T. Bast, C. Schaaf, T. Haack, 2021, Human mutation.

Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential

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

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy

K. Stingl, V. Marino, D. Dell’Orco, 2023, International journal of molecular sciences.

CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph

H. Fröhlich, Alexej Knaus, N. Fleischer, 2021, medRxiv.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

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

Novel Variants of SOX4 in Patients with Intellectual Disability

C. Depienne, T. Haack, F. Kaiser, 2023, International journal of molecular sciences.

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

R. Banerjee, T. Haack, D. Dimmock, 2020, Journal of inherited metabolic disease.

DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy

W. Lagrèze, T. Haack, B. Wissinger, 2022, Journal of Medical Genetics.

Clinical , biochemical , and genetic spectrum of seven patients with NFU 1 deficiency

Robert W. Taylor, T. Meitinger, S. Seneca, 2017 .

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.

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

Robert W. Taylor, H. Prokisch, R. Lightowlers, 2014, European Journal of Human Genetics.

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy.

M. Zeviani, H. Prokisch, E. Lamantea, 2015, JIMD reports.

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Katrien Stouffs, Melanie Bahlo, Holger Prokisch, 2016, American journal of human genetics.

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

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

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

T. Acker, R. Rodenburg, T. Haack, 2019, European journal of medical genetics.

Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.

H. Prokisch, T. Haack, O. Bodamer, 2011, Molecular genetics and metabolism.

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function

B. Bender, L. Schöls, H. Blom, 2017, Orphanet Journal of Rare Diseases.

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9

T. Meitinger, V. Tiranti, M. Zeviani, 2011, Journal of Medical Genetics.

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients

B. Bender, G. Vasco, A. Durr, 2020, Annals of neurology.

Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

H. Prokisch, R. Rodenburg, R. Houtkooper, 2016, JIMD reports.

SYT1-associated neurodevelopmental disorder: a case series

R. Gibbs, S. Boyd, I. Borggraefe, 2018, Brain : a journal of neurology.

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.

CAD mutations and uridine-responsive epileptic encephalopathy

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

Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease

D. Rujescu, A. Hartmann, D. Timmann, 2021, Neurology.

Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa

K. Stingl, V. Marino, K. Koch, 2022, International journal of molecular sciences.

Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy

N. Brüggemann, K. Lohmann, T. Haack, 2021, Annals of clinical and translational neurology.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Dana M. Bis-Brewer, R. Schüle, M. Tarnopolsky, 2019, American journal of human genetics.

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

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

Successful treatment with azacitidine in VEXAS syndrome with prominent myofasciitis.

K. Götze, B. Hemmer, T. Haack, 2021, Rheumatology.

Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux et al.

L. Schöls, M. Sturm, O. Riess, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

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

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

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

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

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.

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

A. Need, C. Rivolta, M. Bleda, 2022, npj Genomic Medicine.

Expansion of the phenotypic and molecular spectrum of CWF19L1‐related disorder

R. Møller, A. Bayat, E. Gardella, 2022, Clinical genetics.

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

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

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Saskia M. J. Hopman, L. Vissers, R. Pfundt, 2023, American journal of human genetics.

Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy

Robert W. Taylor, K. Bhatia, F. Alkuraya, 2021, Movement disorders clinical practice.

Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders

Z. Tümer, A. Afenjar, R. Møller, 2021, Clinical genetics.

Creatine improves health and survival of mice

D. Rujescu, H. Fuchs, M. Angelis, 2008, Neurobiology of Aging.

Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss

A. Büchner, Marcus Müller, T. Haack, 2023, Ear and hearing.

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 .

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation

S. Pappatà, V. Tiranti, L. Romito, 2017, neurogenetics.

Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort

S. Groeschel, I. Krägeloh-Mann, T. Haack, 2020, JIMD reports.

Episignature analysis of moderate effects and mosaics

R. Jech, B. Haslinger, J. Winkelmann, 2023, European Journal of Human Genetics.

Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q

E. Bonora, N. Rizzardi, T. Haack, 2023, Open Biology.

Creatine improves health and survival in mice

D. Rujescu, H. Fuchs, M. H. Angelis, 2007 .

Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

D. Timmann, L. Schöls, P. Klivényi, 2023, Movement disorders : official journal of the Movement Disorder Society.

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.

Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype

K. Stingl, T. Haack, N. Weisschuh, 2022, Molecular genetics & genomic medicine.

Multiomic ALS signatures highlight sex differences and molecular subclusters and identify the MAPK pathway as therapeutic target

H. Rehrauer, R. Schlapbach, M. Sturm, 2023, bioRxiv.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene.

T. Haack, G. Kuhlenbäumer, Meike Steinbach, 2023, Neurogenetics.

Novel homozygous LAMB1 in‐frame deletion in a pediatric patient with brain anomalies and cerebrovascular event

Niklas Luetzen, T. Haack, A. Tzschach, 2023, American journal of medical genetics. Part A.

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.

GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.

T. Haack, G. Stoltenburg‐Didinger, S. Zierz, 2022, Journal of neuromuscular diseases.

As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort

L. Schöls, B. Brais, M. Synofzik, 2023, Movement disorders : official journal of the Movement Disorder Society.

Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia

R. Schüle, L. Schöls, M. Sturm, 2023, Journal of Neurology.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Dana M. Bis-Brewer, R. Schüle, M. Tarnopolsky, 2019, American Journal of Human Genetics.

The genotypic and phenotypic spectrum of MTO1 deficiency

C. Ross, W. Wasserman, H. Prokisch, 2018, Molecular genetics and metabolism.

A. Pagnamenta, M. Nieto, Z. Tümer, 2023, European Journal of Human Genetics.

Clinical Relevance of Genetic Variants in Juvenile Stroke Patients: A Plea for a Precise Classification

T. Haack, I. Cordts, M. Deschauer, 2023, Annals 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.

Mitochondriopathy due to mutations in MTFMT: a predominant neurologic phenotype

T. Meitinger, H. Prokisch, T. Haack, 2013 .

First case of adult onset neuronal intranuclear inclusion disease with both typical radiological signs and NOTCH2NLC repeat expansions in a Caucasian individual

L. Schöls, S. Ossowski, T. Haack, 2023, European journal of neurology.

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

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

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission

P. Schlattmann, K. Kaila, F. Alkuraya, 2023, Brain : a journal of neurology.

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

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

Novel Biallelic CTSD Gene Variants Cause Late‐Onset Ataxia and Retinitis Pigmentosa

J. Winkler, T. Haack, Z. Kohl, 2020, Movement disorders : official journal of the Movement Disorder Society.

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations

B. V. van Bon, R. Pfundt, H. Brunner, 2023, Journal of medical genetics.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

G. Carvill, I. Scheffer, H. Mefford, 2019, American journal of human genetics.

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.