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Employment (1)

Medical Genetics Center: Munich, DE

2011 to present | Assessor
Employment
Source: Self-asserted source
Stephanie Kleinle

Education and qualifications (3)

OLAS: Luxembourg, LU

2021-10-18 to present | Technical Assessor ISO 15189 and ISO/IEC 17025
Qualification
Source: Self-asserted source
Stephanie Kleinle

DAkkS: Berlin, DE

2019-05-16 to present | Fachbegutachterin für Medizinische Laboratorien und Prüflaboratorien
Qualification
Source: Self-asserted source
Stephanie Kleinle

Gesellschaft für Humangenetik: Munich, DE

2002-05-23 to present | Fachhumangenetiker
Education
Source: Self-asserted source
Stephanie Kleinle

Works (34)

Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics

Neurology Genetics
2025-02 | Journal article
DOI: 10.1212/NXG.0000000000200220
Contributors: Martin Wendlandt; Hannes Erdmann; Simone Rost; Morghan C. Lucas; Kerstin Becker; Stephanie Kleinle; Manuela Timmer; Andrea Bier; Gilbert Wunderlich; Stephan Wenninger et al.
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Crossref

Quality assurance within the context of genome diagnostics (a german perspective).

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
2023-06-13 | Journal article
DOI: 10.1515/medgen-2023-2028
PMID: 38840862
Contributors: Florian Kraft; Benet-Pagès A; Berner D; Teubert A; Eck S; Arnold N; Bauer P; Matthias Begemann; Marc Sturm; Kleinle S et al.
Source: Self-asserted source
Stephanie Kleinle

Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.

Brain : a journal of neurology
2023-05-01 | Journal article
DOI: 10.1093/brain/awac377
PMID: 36227727
Contributors: Hannes Erdmann; Schöberl F; Mădălina Giurgiu; Leal Silva RM; Scholz V; Scharf F; Wendlandt M; Kleinle S; Deschauer M; Nübling G et al.
Source: Self-asserted source
Stephanie Kleinle

Novel SYN1 Variant in Two Brothers with Focal Epilepsy and Their Prompt Response to Valproate.

Neuropediatrics
2023-01-24 | Journal article
DOI: 10.1055/a-2019-0136
PMID: 36693418
Contributors: Leuschner UV; Kleinle S; Holzinger A; Neef J
Source: Self-asserted source
Stephanie Kleinle

Sensory neuropathy due to RFC1 in a patient with ALS: more than a coincidence?

Journal of neurology
2021-11-25 | Journal article
DOI: 10.1007/s00415-021-10835-9
PMID: 34821988
PMC: PMC9021066
Contributors: Florian Schöbel; Abicht A; Kuepper C; Voelk S; Sonnenfeld S; Tonon M; Schaub A; Scholz V; Kleinle S; Hannes Erdmann et al.
Source: Self-asserted source
Stephanie Kleinle

Alpers- and MNGIE-like disease with disturbed CSF folate transport and an unusual mode of genetic transmission of POLG mutations: a case report

Journal of the International Child Neurology Association
2021-10-09 | Journal article
DOI: 10.17724/jicna.2020.216
Contributors: Rudolf Korinthenberg; Janbernd Kirschner; Matthias Eckenweiler; Robert Steinfeld; Nana Nino Tatishvili; Rita Horvath; Stephanie Kleinle; Angela Abicht
Source: check_circle
Crossref

HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.

BMC medical genomics
2021-03-31 | Journal article
DOI: 10.1186/s12920-021-00946-7
PMID: 33789662
PMC: PMC8011092
Contributors: Schön U; Holzer A; Laner A; Kleinle S; Scharf F; Benet-Pagès A; Peschel O; Holinski-Feder E; Isabel Diebold
Source: Self-asserted source
Stephanie Kleinle

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study.

British journal of cancer
2020-05-26 | Journal article
DOI: 10.1038/s41416-020-0911-x
PMID: 32451468
PMC: PMC7434760
Contributors: Cöktü S; Spix C; Kaiser M; Beygo J; Kleinle S; Bachmann N; Kohlschmidt N; Prawitt D; Beckmann A; Klaes R et al.
Source: Self-asserted source
Stephanie Kleinle

Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.

Molecular genetics & genomic medicine
2018-11-08 | Journal article
DOI: 10.1002/mgg3.500
PMID: 30406974
PMC: PMC6305657
Contributors: Abicht A; Scharf F; Kleinle S; Schön U; Holinski-Feder E; Rita Horvath; Benet-Pagès A; Isabel Diebold
Source: Self-asserted source
Stephanie Kleinle

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells

Scientific Reports
2018-08-03 | Journal article
DOI: 10.1038/s41598-018-30143-z
Contributors: Selena Trifunov; Angela Pyle; Maria Lucia Valentino; Rocco Liguori; Patrick Yu-Wai-Man; Florence Burté; Jennifer Duff; Stephanie Kleinle; Isabel Diebold; Michela Rugolo et al.
Source: check_circle
Crossref
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A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.

Human molecular genetics
2018-04-01 | Journal article
DOI: 10.1093/hmg/ddy033
PMID: 29361167
PMC: PMC6159537
Contributors: Bartsakoulia M; Pyle A; Troncoso-Chandía D; Vial-Brizzi J; Paz-Fiblas MV; Duff J; Helen R Griffin; Boczonadi V; Lochmüller H; Kleinle S et al.
Source: Self-asserted source
Stephanie Kleinle

Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

Journal of medical genetics
2018-03-24 | Journal article
DOI: 10.1136/jmedgenet-2017-105190
PMID: 29574422
PMC: PMC6047157
Contributors: Begemann M; Faisal I Rezwan; Beygo J; Docherty LE; Kolarova J; Schroeder C; Buiting K; Chokkalingam K; Degenhardt F; Emma Wakeling et al.
Source: Self-asserted source
Stephanie Kleinle

Revisiting mitochondrial diagnostic criteria in the new era of genomics.

Genetics in medicine : official journal of the American College of Medical Genetics
2017-10-26 | Journal article
DOI: 10.1038/gim.2017.125
PMID: 29261183
Contributors: Witters P; Ann Saada; Honzik T; Marketa Tesarova; Kleinle S; Rita Horvath; Goldstein A; Morava E
Source: Self-asserted source
Stephanie Kleinle

Genetic heterogeneity of motor neuropathies.

Neurology
2017-03-01 | Journal article
DOI: 10.1212/wnl.0000000000003772
PMID: 28251916
PMC: PMC5373778
Contributors: Bansagi B; Helen R Griffin; Roger Whittaker; Antoniadi T; Evangelista T; Miller J; Mark Greenslade; Forester N; Duff J; Bradshaw A et al.
Source: Self-asserted source
Stephanie Kleinle

Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP).

Muscle & nerve
2016-08-01 | Journal article
DOI: 10.1002/mus.25125
PMID: 27015314
Contributors: Kristl Claeys; Abicht A; Häusler M; Kleinle S; Wiesmann M; Jörg B. Schulz; Rita Horvath; Joachim Weis
Source: Self-asserted source
Stephanie Kleinle

Mitochondrial dysfunction in liver failure requiring transplantation.

Journal of inherited metabolic disease
2016-04-06 | Journal article
DOI: 10.1007/s10545-016-9927-z
PMID: 27053192
PMC: PMC4851707
Contributors: Lane M; Boczonadi V; Bachtari S; Gomez-Duran A; Langer T; Griffiths A; Kleinle S; Dineiger C; Abicht A; Holinski-Feder E et al.
Source: Self-asserted source
Stephanie Kleinle

ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.

BioMed research international
2015-10-13 | Journal article
DOI: 10.1155/2015/462592
PMID: 26550569
PMC: PMC4621340
Contributors: Braczynski AK; Vlaho S; Müller K; Wittig I; Blank AE; Tews DS; Drott U; Kleinle S; Abicht A; Rita Horvath et al.
Source: Self-asserted source
Stephanie Kleinle

Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.

Molecular and cellular probes
2015-08-29 | Journal article
DOI: 10.1016/j.mcp.2015.06.005
PMID: 26327357
Contributors: Köhler C; Heyer C; Hoffjan S; Stemmler S; Lücke T; Thiels C; Alfried Kohlschütter; Löbel U; Rita Horvath; Kleinle S et al.
Source: Self-asserted source
Stephanie Kleinle

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering.

Journal of neurology
2015-05-10 | Journal article
DOI: 10.1007/s00415-015-7755-y
PMID: 25957632
PMC: PMC4503877
Contributors: Daud D; Helen R Griffin; Konstantinos Douroudis; Kleinle S; Eglon G; Pyle A; Patrick Chinnery; Rita Horvath
Source: Self-asserted source
Stephanie Kleinle

Respiratory chain deficiency in nonmitochondrial disease.

Neurology. Genetics
2015-04-27 | Journal article
DOI: 10.1212/nxg.0000000000000006
PMID: 27066545
PMC: PMC4821083
Contributors: Pyle A; Helen Nightingale; Helen R Griffin; Abicht A; Janbernd Kirschner; Baric I; Cuk M; Konstantinos Douroudis; Feder L; Kratz M et al.
Source: Self-asserted source
Stephanie Kleinle

Unexplained infertility: increased risk for 21-hydroxylase-deficiency in parents and offspring?

European journal of obstetrics, gynecology, and reproductive biology
2014-09-16 | Journal article
DOI: 10.1016/j.ejogrb.2014.09.014
PMID: 25306100
Contributors: Baumgartner-Parzer S; Vytiska-Binsdorfer E; Kleinle S; Georg Heinze; Vierhapper H
Source: Self-asserted source
Stephanie Kleinle

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

JAMA
2014-07-01 | Journal article
DOI: 10.1001/jama.2014.7184
PMID: 25058219
PMC: PMC6558267
Contributors: Taylor RW; Pyle A; Helen R Griffin; Blakely EL; Duff J; He L; Smertenko T; Charlotte Alston; Neeve VC; Best A et al.
Source: Self-asserted source
Stephanie Kleinle

Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect.

The Journal of clinical endocrinology and metabolism
2009-09-22 | Journal article
DOI: 10.1210/jc.2009-0487
PMID: 19773403
Contributors: Kleinle S; Lang R; Fischer GF; Vierhapper H; Franz Waldhauser; Födinger M; Baumgartner-Parzer SM
Source: Self-asserted source
Stephanie Kleinle

Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR.

Human mutation
2004-04-01 | Journal article
DOI: 10.1002/humu.20007
PMID: 15024733
Contributors: Joncourt F; Neuhaus B; Jostarndt-Foegen K; Kleinle S; Steiner B; Gallati S
Source: Self-asserted source
Stephanie Kleinle

Problems in detecting mosaic DNA methylation in Angelman syndrome.

European journal of human genetics : EJHG
2003-12-01 | Journal article
DOI: 10.1038/sj.ejhg.5201078
PMID: 14523374
Contributors: Horsthemke B; Lich C; Buiting K; Achmann R; Aulehla-Scholz C; Baumer A; Bürger J; Dworniczak B; Gläser D; Holinski-Feder E et al.
Source: Self-asserted source
Stephanie Kleinle

Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.

Journal of medical genetics
2001-10-01 | Journal article
DOI: 10.1136/jmg.38.10.665
PMID: 11584044
PMC: PMC1734743
Contributors: Jaksch M; Kleinle S; Scharfe C; Klopstock T; Pongratz D; Müller-Höcker J; Gerbitz KD; Liechti-Gallati S; Lochmuller H; Horvath R
Source: Self-asserted source
Stephanie Kleinle

Mitochondrial diseases represent a risk factor for valproate-induced fulminant liver failure.

Liver
2000-07-01 | Journal article
DOI: 10.1034/j.1600-0676.2000.020004346.x
PMID: 10959815
Contributors: Krähenbühl S; Sebastian Brandner; Kleinle S; Liechti S; Straumann D
Source: Self-asserted source
Stephanie Kleinle

Hyperventilation due to mitochondrial myopathy.

Journal of the Royal Society of Medicine
2000-01-01 | Journal article
DOI: 10.1177/014107680009300108
PMID: 10700843
PMC: PMC1288048
Contributors: Moosmann P; Sebastian Brandner; Kleinle S; Frauchiger B
Source: Self-asserted source
Stephanie Kleinle

Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome.

Journal of hepatology
1999-09-01 | Journal article
DOI: 10.1016/s0168-8278(99)80050-6
PMID: 10488717
Contributors: Krähenbühl S; Kleinle S; Henz S; Kurt Leibundgut; Liechti S; Zimmermann A; Wiesmann U
Source: Self-asserted source
Stephanie Kleinle

A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.

Journal of medical genetics
1998-11-01 | Journal article
DOI: 10.1136/jmg.35.11.895
PMID: 9832034
PMC: PMC1051480
Contributors: Jaksch M; Hofmann S; Kleinle S; Liechti-Gallati S; Pongratz DE; Müller-Höcker J; Jedele KB; Thomas Meitinger; Gerbitz KD
Source: Self-asserted source
Stephanie Kleinle

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

Annals of neurology
1998-10-01 | Journal article
DOI: 10.1002/ana.410440409
PMID: 9778262
Contributors: Jaksch M; Klopstock T; Kurlemann G; Dörner M; Hofmann S; Kleinle S; Hegemann SC; Weissert M; Müller-Höcker J; Pongratz D et al.
Source: Self-asserted source
Stephanie Kleinle

A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease.

Biochemical and biophysical research communications
1998-06-01 | Journal article
DOI: 10.1006/bbrc.1998.8729
PMID: 9636664
Contributors: Kleinle S; Schneider V; Moosmann P; Sebastian Brandner; Krähenbühl S; Liechti-Gallati S
Source: Self-asserted source
Stephanie Kleinle

Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR.

Human genetics
1997-10-01 | Journal article
DOI: 10.1007/s004390050567
PMID: 9341886
Contributors: Kleinle S; Wiesmann U; Superti-Furga A; Krähenbühl S; Boltshauser E; Reichen J; Liechti-Gallati S
Source: Self-asserted source
Stephanie Kleinle

Combined 3-methylglutaconic and 3-hydroxy-3-methylglutaric aciduria with endocardial fibroelastosis and dilatative cardiomyopathy in male and female siblings with partial deficiency of complex II/III in fibroblasts.

Enzyme & protein
1996-01-01 | Journal article
DOI: 10.1159/000468642
PMID: 9252790
Contributors: Ruesch S; Krähenbühl S; Kleinle S; Liechti-Gallati S; Schaffner T; Wermuth B; Weber J; Wiesmann UN
Source: Self-asserted source
Stephanie Kleinle
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