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N. Kohlschmidt · SciRah

Researcher profile · Semantic Scholar

N. Kohlschmidt

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N. Kohlschmidt — researcher profile on SciRah

h-index: 17
Works: 50
Citations: 1,362

Most-cited papers

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome
M. Kyttälä, Jonna Tallila, R. Salonen, O. Kopra +4 more
2006Nature Genetics258 citations
Semantic Scholar
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes
C. Kratz, L. Franke, H. Peters, N. Kohlschmidt +27 more
2015British Journal of Cancer208 citations Open access
Semantic Scholar
Linkage disequilibrium of MTHFR genotypes 677C/T-1298A/C in the German population and association studies in probands with neural tube defects(NTD).
K. Stegmann, Andreas Ziegler, Ernestine T. K. M. Ngo, N. Kohlschmidt +3 more
1999American journal of medical genetics143 citations
Semantic Scholar
Newborn screening for 3‐methylcrotonyl‐CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
S. Stadler, R. Polanetz, E. Maier, Sylvia C. Heidenreich +22 more
2006Human Mutation89 citations
Semantic Scholar
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
M. Romano, A. Tafazzoli, M. Mattern, S. Sivalingam +18 more
2018American Journal of Human Genetics79 citations Open access
Semantic Scholar
Clinical presentation and proteomic signature of patients with TANGO2 mutations
Nadja Mingirulli, A. Pyle, D. Hathazi, C. Alston +39 more
2019Journal of Inherited Metabolic Disease58 citations Open access
Semantic Scholar
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.
E. Schneider, T. Märker, A. Daser, Gabriele Frey-Mahn +12 more
2009Human Molecular Genetics56 citations Open access
Semantic Scholar
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study
Sümeyye Cöktü, C. Spix, M. Kaiser, J. Beygo +17 more
2020British Journal of Cancer51 citations Open access
Semantic Scholar
Monozygotic twins discordant for constitutive BRCA1 promoter methylation, childhood cancer and secondary cancer
D. Galetzka, T. Hansmann, N. El Hajj, E. Weis +9 more
2012Epigenetics51 citations Open access
Semantic Scholar
Mutation Spectrum of Meckel Syndrome Genes: One Group of Syndromes or Several Distinct Groups?
Jonna Tallila, R. Salonen, N. Kohlschmidt, L. Peltonen +1 more
2009Human Mutation39 citations Open access
Semantic Scholar
Molecular pathophysiology of human MICU1 deficiency
N. Kohlschmidt, M. Elbracht, A. Czech, M. Häusler +14 more
2021Neuropathology and Applied Neurobiology28 citations Open access
Semantic Scholar
GJB2 Mutations and Genotype-Phenotype Correlation in 335 Patients from Germany with Nonsyndromic Sensorineural Hearing Loss: Evidence for Additional Recessive Mutations Not Detected by Current Methods
O. Bartsch, A. Vatter, U. Zechner, N. Kohlschmidt +5 more
2010Audiology and Neurotology25 citations
Semantic Scholar
Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.
U. Zechner, N. Kohlschmidt, O. Kempf, K. Gebauer +4 more
2009European Journal of Medical Genetics23 citations
Semantic Scholar
Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat‐like clinical phenotype
Ulrich Zechner, N. Kohlschmidt, G. Rittner, Natalja Damatova +3 more
2009Clinical Genetics21 citations
Semantic Scholar
Deficient membrane integration of the novel p.N14D‐GJB2 mutant associated with non‐syndromic hearing impairment
B. Haack, K. Schmalisch, M. Palmada, C. Böhmer +8 more
2006Human Mutation21 citations Open access
Semantic Scholar
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1).
A. Gangfuss, Andreas Hentschel, Lorena Heil, M. González +12 more
2022Molecular Genetics and Metabolism18 citations
Semantic Scholar
Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf–Hirschhorn syndrome (WHS)
N. Kohlschmidt, J. Zielinski, E. Brude, D. Schäfer +4 more
2000Prenatal Diagnosis17 citations
Semantic Scholar
Muscle Pathology as a Diagnostic Clue to Allgrove Syndrome
J. Reimann, N. Kohlschmidt, K. Tolksdorf, J. Weis +2 more
2017Journal of Neuropathology and Experimental Neurology16 citations Open access
Semantic Scholar
Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.
C. Hallermann, G. Mucher, N. Kohlschmidt, B. Wellek +7 more
2000American journal of medical genetics14 citations
Semantic Scholar
Case report supporting that the Barber–Say and ablepharon macrostomia syndromes could represent one disorder
Jennifer X. Haensel, N. Kohlschmidt, S. Pitz, A. Keilmann +4 more
2009American Journal of Medical Genetics. Part A13 citations
Semantic Scholar
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
Lot Snijders Blok, Jolijn J. A. Verseput, D. Rots, H. Venselaar +45 more
2022HGG advances12 citations Open access
Semantic Scholar
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects
Annabelle Arlt, N. Kohlschmidt, Andreas Hentschel, E. Bartels +13 more
2022Orphanet Journal of Rare Diseases12 citations Open access
Semantic Scholar
Expression of somatic DNA repair genes in human testes
D. Galetzka, E. Weis, N. Kohlschmidt, O. Bitz +2 more
2007Journal of Cellular Biochemistry12 citations
Semantic Scholar
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease
A. Gangfuss, Andreas Hentschel, Nina Rademacher, A. Sickmann +10 more
2022Human Mutation11 citations Open access
Semantic Scholar
Homozygote und „compound“-heterozygote RYR1-Mutationen
S. Wolak, B. Rücker, N. Kohlschmidt, S. Doetsch +3 more
2014Der Anaesthesist11 citations
Semantic Scholar
Familial fatal fetal cardiomyopathy with isolated myocardial calcifications: a new syndrome?
K. Haug, N. Kohlschmidt, Mirjam Dereser-Dennl, J. Zielinski +2 more
2001American journal of medical genetics11 citations
Semantic Scholar
[Homozygous and compound heterozygous RYR1 mutations. New findings on prevalence and penetrance of malignant hyperthermia].
S. Wolak, B. Rucker, N. Kohlschmidt, S. Doetsch +3 more
2014Der Anaesthesist10 citations
Semantic Scholar
Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease
M. Mroczek, D. Zafeiriou, J. Gurgel-Gianetti, Beatriz Vilela Morais de Azevedo +8 more
2020Neuropediatrics9 citations
Semantic Scholar
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
H. Dafsari, Celine Deneubourg, Kritarth Singh, R. Maroofian +137 more
2025Annals of Neurology8 citations Open access
Semantic Scholar
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Andreas Roos, P. F. M. van der Ven, Hadil Alrohaif, H. Kölbel +29 more
2023Brain : a journal of neurology8 citations Open access
Semantic Scholar
A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function
Andreas Hentschel, N. Meyer, N. Kohlschmidt, C. Gross +16 more
2023Molecular Neurobiology7 citations Open access
Semantic Scholar
Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3
A. Della Marina, Annabelle Arlt, U. Schara-Schmidt, C. Depienne +10 more
2021Cells6 citations Open access
Semantic Scholar
Reduced mRNA and Protein Expression of the Genomic Caretaker RAD9A in Primary Fibroblasts of Individuals with Childhood and Independent Second Cancer
E. Weis, H. Schoen, A. Victor, C. Spix +9 more
2011PLoS ONE6 citations Open access
Semantic Scholar
Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders
H. Dafsari, Celine Deneubourg, Kritarth Singh, R. Maroofian +123 more
2024medRxiv5 citations Open access
Semantic Scholar
Insights into the genesis of a brain and muscle disorder caused by a novel mutation in MICU1
Andreas Roos, Vietxuan Phan, M. Häussler, A. Topf +4 more
20174 citations
Semantic Scholar
Infantile Neuroaxonal Dystrophy: A Rare Cause of Early Childhood Ataxia with Poor Prognosis
S. El Arbi, A. Demant, N. Kohlschmidt, G. Horneff
2012Klinische Pädiatrie2 citations
Semantic Scholar
Lessons learned from a muscle study in nail-patella syndrome
Luisa Paul, A. Schänzer, Christel Depienne, Andreas Hentschel +5 more
2025Orphanet Journal of Rare Diseases1 citations Open access
Semantic Scholar
Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report
Thomas Bogs, F. Kipfmüller, N. Kohlschmidt, U. Gembruch +2 more
2016Journal of Medical Case Reports1 citations Open access
Semantic Scholar
[Obesity surgery in patients suffering from monogenetic adipositas].
M. Korenkov, N. Kohlschmidt, U. Zechner, T. Haaf +1 more
2007Zentralblatt für Chirurgie1 citations
Semantic Scholar
Hypomorphic biallelic LIFR variants define a multisystem disorder with survival beyond infancy and hyperinflammatory vulnerability
Madeleine Schmidt, P. Rafii, A. Al Shamsi, G. Zifarelli +35 more
2026Frontiers in Immunology0 citations Open access
Semantic Scholar
A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies
M. Pauper, H. Kölbel, I. Karakesisoglou, A. Schänzer +14 more
2026Brain Pathology0 citations Open access
Semantic Scholar
Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function
Andreas Hentschel, N. Meyer, N. Kohlschmidt, C. Gross +16 more
2023Molecular Neurobiology0 citations Open access
Semantic Scholar
P.28 Introduction of 12 novel pathogenic DMD variants, associated phenotypes and studies of dystrophin and MAST1 abundances
A. Gangfuss, K. Neuhoff, A. Hentschel, N. Kohlschmidt +3 more
2022Neuromuscular Disorders0 citations
Semantic Scholar
P.83 Molecular pathology of human PPP1R21 deficiency
N. Meyer, N. Kohlschmidt, Hanns Lochmüller, U. Schara +6 more
2022Neuromuscular Disorders0 citations
Semantic Scholar
A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
Lot Snijders Blok, Jolijn J. A. Verseput, D. Rots, H. Venselaar +34 more
2021medRxiv0 citations Open access
Semantic Scholar
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study
Sümeyye Cöktü, C. Spix, M. Kaiser, J. Beygo +17 more
2020British Journal of Cancer0 citations Open access
Semantic Scholar
P.186Two patients with PURA syndrome in a large cohort of patients with unexplained muscle disease
M. Mroczek, A. Töpf, D. Zafeiriou, Andreas Roos +4 more
2019Neuromuscular Disorders0 citations
Semantic Scholar
G.P.59
Jens Reimann, N. Kohlschmidt, K. Kappes-Horn, M. Stepien-Mehring +2 more
20140 citations
Semantic Scholar
Contents Vol. 15, 2010
Chadi Makary, J. Shin, P. Caruso, H. Curtin +39 more
2010Audiology and Neurotology0 citations Open access
Semantic Scholar
Subject Index Vol. 15, 2010
Chadi Makary, J. Shin, P. Caruso, H. Curtin +39 more
2010Audiology and Neurotology0 citations Open access
Semantic Scholar

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