P. Freisinger

发表

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.

Genetic diagnosis of Mendelian disorders via RNA sequencing

Thomas Meitinger, Gabi Kastenmüller, Jerzy Adamski, 2017, Nature Communications.

Genetic diagnosis of Mendelian disorders via RNA sequencing

Robert W. Taylor, Daniel M Bader, J. Gagneur, 2017, Nature Communications.

Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening

I. Harting, A. Mohr, S. Kölker, 2021, Journal of inherited metabolic disease.

Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: Is there a potential effect of copper?

R. Horvath, C. Macmillan, P. Freisinger, 2004, Journal of Inherited Metabolic Disease.

Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1α Stability in Aerobic Conditions

G. Dougan, P. Lehner, Ana S. H. Costa, 2016, Cell metabolism.

Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease

J. Smeitink, E. Mayatepek, E. Morava, 2015, Journal of Inherited Metabolic Disease.

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders

I. Rivera, H. Prokisch, R. Rodenburg, 2015, Journal of Inherited Metabolic Disease.

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy

H. Prokisch, T. Haack, W. Sperl, 2016, Journal of Medical Genetics.

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

N. Krogan, Y. Wada, O. Kretz, 2017, The Journal of experimental medicine.

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

V. Mootha, B. Paw, S. Dimauro, 2013, American journal of human genetics.

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

M. Baumgartner, D. Rizopoulos, Y. Chien, 2019, Molecular genetics and metabolism.

Citrin deficiency mimicking mitochondrial depletion syndrome

M. Schmidts, T. Haack, S. Grünert, 2020, BMC Pediatrics.

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

T. Wieland, T. Meitinger, T. Strom, 2012, Journal of Medical Genetics.

A molecular approach to dominance in hypophosphatasia

J. Gibrat, A. Aylsworth, E. Bieth, 2001, Human Genetics.

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

M. Tuchman, M. Baumgartner, S. Waisbren, 2020, Scientific Reports.

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

A. Hoischen, T. Meitinger, T. Strom, 2017, American Journal of Human Genetics.

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Robert W. Taylor, M. Minczuk, E. Bertini, 2014, American journal of human genetics.

Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation

A. Yoshimi, C. Niemeyer, S. Burdach, 2006, European Journal of Pediatrics.

Type II collagenopathies: are there additional family members?

A. Nerlich, B. Pontz, P. Freisinger, 1996, American journal of medical genetics.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary

Robert W. Taylor, S. Dimauro, D. Turnbull, 2006 .

Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.

H. Prokisch, T. Haack, S. Boesch, 2020, European journal of medical 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.

The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome.

D. Auer, T. Meitinger, P. Freisinger, 2005, Neuropediatrics.

Mitochondrial fission factor (MFF) is a critical regulator of peroxisome maturation

S. Ferdinandusse, M. Schrader, D. M. Richards, 2020, bioRxiv.

Spectrum of combined respiratory chain defects

T. Meitinger, H. Prokisch, T. Haack, 2015, Journal of Inherited Metabolic Disease.

A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy

S. Berweck, S. Burdach, V. Mall, 2019, Neuropediatrics.

Mitochondriopathien: Ein Update

H. Prokisch, D. Karall, W. Sperl, 2011 .

Fifteen new mutations (‐195C>T, L‐12X, 298‐2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue‐nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

R. Hennekam, R. Hennekam, F. Fellmann, 2000, Human mutation.

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

H. Prokisch, J. Hentschel, A. Gropman, 2022, Nutrients.

Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

H. Prokisch, T. Haack, U. Ahting, 2015, Orphanet Journal of Rare Diseases.

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

H. Prokisch, C. La Morgia, Leah Fleming, 2022, Brain : a journal of neurology.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Robert W. Taylor, D. Turnbull, M. Zeviani, 2006, Brain : a journal of neurology.

Mitochondriopathien

J. Mayr, P. Freisinger, D. Karall, 2011, Monatsschrift Kinderheilkunde.

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

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

Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.

A. Macdonald, K. Ross, S. Evans, 2015, Molecular genetics and metabolism.

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Robert W. Taylor, H. Prokisch, N. Hauser, 2015, Journal of Inherited Metabolic Disease.

Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation

D. Berg, M. Spraul, A. Pilotto, 2020, Orphanet Journal of Rare Diseases.

The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria.

A. Kühn, J. Huebl, T. Mainka, 2021, Parkinsonism & related disorders.

Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose.

J. Bonaventure, P. Freisinger, P. Maroteaux, 1994, American journal of medical genetics.

Leigh Disease with Brainstem Involvement in Complex I Deficiency due to Assembly Factor NDUFAF2 Defect

H. Prokisch, R. Rodenburg, W. Sperl, 2010, Neuropediatrics.

No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome

H. Bolz, D. Wieczorek, K. Kutsche, 2003, American journal of medical genetics. Part A.

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial

F. Eyskens, A. Burlina, V. Leuzzi, 2021, Orphanet Journal of Rare Diseases.

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.

Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study

M. Baumgartner, S. Grünert, T. Marquardt, 2020, Journal of inherited metabolic disease.

Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening

S. Grünert, S. Kölker, R. Posset, 2022, Journal of inherited metabolic disease.

Reexpression of cartilage-specific genes by dedifferentiated human articular chondrocytes cultured in alginate beads.

J. Bonaventure, P. Freisinger, K. Ng, 1994, Experimental cell research.

Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.

H. Prokisch, T. Haack, U. Ahting, 2011, American journal of human genetics.

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

F. Kaper, A. Superti-Furga, R. Brenner, 1998, European Journal of Human Genetics.

Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype–phenotype correlation

B. L. de Groot, R. Ganetzky, J. Vockley, 2019, Human mutation.

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism

R. Horvath, D. Pongratz, L. Møller, 2005, Journal of Inherited Metabolic Disease.

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

M. Tesařová, J. Zeman, S. Kmoch, 2010, Archives of Disease in Childhood.

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

H. Mandel, M. Hochuli, J. Jordan, 2014, Orphanet Journal of Rare Diseases.

An atypical form of mucolipidosis III.

P. Freisinger, P. Maroteaux, J. Padovani, 1992, Journal of medical 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.

Long‐term outcomes after liver transplantation for deoxyguanosine kinase deficiency: A single‐center experience and a review of the literature

T. Marquardt, K. Tsiakas, R. Santer, 2014, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency

J. Dunn, R. Horvath, D. Dimmock, 2008, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

K. Gempel, R. Horvath, T. Berger, 2006, Archives of neurology.

Phenylalanine Effects on Brain Function in Adult Phenylketonuria

K. Scheffler, D. Berg, A. Padovani, 2020, Neurology.

Impact of age at onset and newborn screening on outcome in organic acidurias

M. Baumgartner, J. Zeman, S. Kölker, 2016, Journal of Inherited Metabolic Disease.

Impact of age at onset and newborn screening on outcome in organic acidurias

M. Baumgartner, J. Zeman, S. Kölker, 2016, Journal of Inherited Metabolic Disease.

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.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

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

Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy

M. Knuf, P. Freisinger, C. Kampmann, 2007, Acta paediatrica.

Loss‐of‐function mutations of SURF‐1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency

G. Comi, T. Meitinger, V. Tiranti, 1999, Annals of neurology.

Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.

D. Rimoin, A. Nerlich, M. Gonzalès, 2002, American journal of medical genetics.

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 .

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency.

T. Meitinger, H. Prokisch, T. Haack, 2011, Molecular genetics and metabolism.

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.

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

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

Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening

M. Leichsenring, S. Grünert, S. Kölker, 2020, Pediatrics.

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

S. Grünert, T. Marquardt, S. Kölker, 2021, Journal of inherited metabolic disease.

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.

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

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

Methionine Adenosyltransferase I/III Deficiency Detected by Newborn Screening

S. Grünert, P. Freisinger, L. Hannibal, 2022, Genes.

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

H. Prokisch, R. Jech, R. Rodenburg, 2021, Annals of neurology.

Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA

H. Prokisch, S. Sieber, I. Wittig, 2021, Cells.

Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX With Its Interactors at the Nucleoid and RNA Granule

H. Prokisch, W. Newman, S. Sieber, 2021 .

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.

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.

S. Kohlwein, Hanns Lochmüller, R. Horvath, 2007, American journal of human genetics.

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.

E. Shoubridge, Hanns Lochmüller, R. Horvath, 2001, Human molecular genetics.

Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children

R. Horvath, B. Schoser, B. Czermin, 2011, Neuromuscular Disorders.

Clinical and ultrastructural findings in three patients with geleophysic dysplasia.

F. Henschke, A. Karbowski, B. Pontz, 1996, American journal of medical genetics.

The genotypic and phenotypic spectrum of MTO1 deficiency

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

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

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

Delineating MT-ATP6-associated disease

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

Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.

A. Nerlich, P. Freisinger, J. Bonaventure, 1996, American journal of medical genetics.

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

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

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

S. Haas, P. Huppke, S. Kaler, 2012, American journal of human genetics.

MRI and 1H-MRS in adenosine kinase deficiency

I. Harting, H. Blom, S. Kölker, 2016, Neuroradiology.

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

H. Blom, S. Grünert, K. Kahrizi, 2016, Journal of Inherited Metabolic Disease.

Ex vivo proton spectroscopy (1H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses

M. Spraul, S. Biskup, N. Himmelreich, 2022, NMR in biomedicine.

Ammonia and coma – a case report of late onset hemizygous ornithine carbamyltransferase deficiency in 68-year-old female

P. Freisinger, T. Lindig, J. Marquetand, 2020, BMC Neurology.

Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria

S. Kölker, R. Santer, P. Burgard, 2022, Journal of inherited metabolic disease.

Newborn screening: A disease‐changing intervention for glutaric aciduria type 1

M. Baumgartner, S. Grünert, T. Marquardt, 2018, Annals of neurology.

Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria

K. Scheffler, D. Berg, C. Zipser, 2019, Journal of inherited metabolic disease.

From isolated neuropathy to early onset neurodegeneration

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

Pachydysostosis of the fibula.

M. le Merrer, P. Freisinger, P. Maroteaux, 1991, The Journal of bone and joint surgery. British volume.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

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

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.

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

M. Baumgartner, S. Grünert, S. Kölker, 2021, Scientific Reports.

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl‐tRNA synthase in six individuals with mitochondrial encephalopathy

G. Pruijn, J. Veltman, H. Prokisch, 2017, Human mutation.

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.

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

E. Shoubridge, D. Auer, K. Gerbitz, 2001, Neurology.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

Bethan E. Hoskins, D. Seelow, H. Prokisch, 2010, The Journal of clinical investigation.

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.

Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis

A. Bayat, M. Godejohann, M. Spraul, 2023, Molecules.

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

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

Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome

M. Hochuli, A. Das, Sebene Mayorandan, 2020, Nutrients.

Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.

D. Prockop, R. Bouvier, P. Freisinger, 1994, The Journal of biological chemistry.

Collagen fibrils of osteoid in osteogenesis imperfecta: morphometrical analysis of the fibril diameter.

P. Freisinger, H. Stöss, 1993, American journal of medical genetics.

Dominant carpotarsal osteochondromatosis.

H. Bensahel, M. le Merrer, P. Freisinger, 1993, Journal of medical genetics.

Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1α Stability in Aerobic Conditions

G. Dougan, P. Lehner, Ana S. H. Costa, 2016, Cell metabolism.

The genotypic and phenotypic spectrum of MTO1 deficiency

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

The synthesis of fibroblast growth factor 23 is upregulated by homocysteine in UMR106 osteoblast-like cells.

M. Föller, P. Freisinger, J. Alber, 2021, Nutrition.

Severe adverse reactions to Infliximab therapy are common in young children with inflammatory bowel disease

E. Savilahti, K. Kolho, P. Freisinger, 2007, Acta paediatrica.

Mitochondriopathy due to mutations in MTFMT: a predominant neurologic phenotype

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

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Journal of Clinical Investigation (2010) 120, 3 (791-802) DOI: 10.1172/JCI40076)

Bethan E. Hoskins, D. Seelow, H. Prokisch, 2010 .

Journal of Inherited Metabolic Disease

Heidelberg, Padova, C., 1991, Springer Netherlands.

Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples

S. Grünert, U. Steuerwald, S. Kölker, 2023, Journal of inherited metabolic disease.

Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment

S. Kölker, M. Lindner, R. Santer, 2023, Journal of inherited metabolic disease.

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

P. Huppke, S. Kaler, J. Christodoulou, 2012, American journal of human genetics.

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

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

Genetic landscape of pediatric acute liver failure of indeterminate origin

T. Meitinger, H. Prokisch, C. Sokollik, 2023, Hepatology.