The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function von Girisha, Katta M., Elsner, Leonie, Neethukrishna, Kausthubham, Muranjan, Mamta, Shukla, Anju, Bhavani, Gandham SriLakshmi, Nishimura, Gen, Kutsche, Kerstin, Mortier, Geert

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Uptake of clostridium botulinum C3 exoenzyme into intact HT22 and J774A.1 cells von Rohrbeck, Astrid, von Elsner, Leonie, Hagemann, Sandra, Just, Ingo

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A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia von Holling, Tess, Bhavani, Gandham S., Elsner, Leonie, Shah, Hitesh, Kausthubham, Neethukrishna, Bhattacharyya, Shaila S., Shukla, Anju, Mortier, Geert R., Schinke, Thorsten, Danyukova, Tatyana, Pohl, Sandra, Kutsche, Kerstin, Girisha, Katta M.

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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functio... von Coste de Bagneaux, Pierre, von Elsner, Leonie, Bierhals, Tatjana, Campiglio, Marta, Johannsen, Jessika, Obermair, Gerald J, Hempel, Maja, Flucher, Bernhard E, Kutsche, Kerstin

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MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency von Knapp, Karen M, Jenkins, Danielle E, Sullivan, Rosie, Harms, Frederike L, von Elsner, Leonie, Ockeloen, Charlotte W, de Munnik, Sonja, Bongers, Ernie M H F, Murray, Jennie, Pachter, Nicholas, Denecke, Jonas, Kutsche, Kerstin, Bicknell, Louise S

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Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities von Schneeberger, Pauline E., von Elsner, Leonie, Barker, Emma L., Meinecke, Peter, Marquardt, Iris, Alawi, Malik, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Zwijnenburg, Petra J.G., Weiss, Marjan M., Merry, Catherine L.R., Kutsche, Kerstin

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RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1 von Meyer Zum Büschenfelde, Uta, Brandenstein, Laura Isabel, von Elsner, Leonie, Flato, Kristina, Holling, Tess, Zenker, Martin, Rosenberger, Georg, Kutsche, Kerstin

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Binding of Clostridium botulinum C3 exoenzyme to intact cells von Rohrbeck, Astrid, von Elsner, Leonie, Hagemann, Sandra, Just, Ingo

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Intestinal absorption and cell transforming potential of PhIP-M1, a bacterial metabolite of the heterocyclic aromatic amine 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) von Nicken, Petra, Willenberg, Ina, Keutz, Anne von, Elsner, Leonie von, Hamscher, Gerd, Vanhaecke, Lynn, Schröder, Bernd, Breves, Gerhard, Schebb, Nils Helge, Steinberg, Pablo

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Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy von Dahimene, Shehrazade, von Elsner, Leonie, Holling, Tess, Mattas, Lauren S, Pickard, Jess, Lessel, Davor, Pilch, Kjara S, Kadurin, Ivan, Pratt, Wendy S, Zhulin, Igor B, Dai, Hongzheng, Hempel, Maja, Ruzhnikov, Maura R Z, Kutsche, Kerstin, Dolphin, Annette C

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Development of an online-SPE-LC-MS method for the investigation of the intestinal absorption of 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PHIP) and its bacterial metabolite... von Willenberg, Ina, von Elsner, Leonie, Steinberg, Pablo, Schebb, Nils Helge

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Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation von von Elsner, Leonie, Chai, Guoliang, Schneeberger, Pauline E, Harms, Frederike L, Casar, Christian, Qi, Minyue, Alawi, Malik, Abdel-Salam, Ghada M H, Zaki, Maha S, Arndt, Florian, Yang, Xiaoxu, Stanley, Valentina, Hempel, Maja, Gleeson, Joseph G, Kutsche, Kerstin

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C3 exoenzyme impairs cell proliferation and apoptosis by altering the activity of transcription factors von von Elsner, Leonie, Hagemann, Sandra, Just, Ingo, Rohrbeck, Astrid

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A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia von Holling, Tess, Bhavani, Gandham S, von Elsner, Leonie, Shah, Hitesh, Kausthubham, Neethukrishna, Bhattacharyya, Shaila S, Shukla, Anju, Mortier, Geert R, Schinke, Thorsten, Danyukova, Tatyana, Pohl, Sandra, Kutsche, Kerstin, Girisha, Katta M

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Bi-allelic pathogenic variants in HS2ST1 cause a syndrome characterized by developmental delay and corpus callosum, skeletal, and renal abnormalities von Schneeberger, Pauline E, von Elsner, Leonie, Barker, Emma L, Meinecke, Peter, Marquardt, Iris, Alawi, Malik, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Zwijnenburg, Petra J G, Weiss, Marjan M, Merry, Catherine L R, Kutsche, Kerstin

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The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function von Girisha, Katta M, von Elsner, Leonie, Neethukrishna, Kausthubham, Muranjan, Mamta, Shukla, Anju, Bhavani, Gandham SriLakshmi, Nishimura, Gen, Kutsche, Kerstin, Mortier, Geert

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Development of an online-SPE-LC-MS method for the investigation of the intestinal absorption of 2-amino-1-methyl-6-phenylimidazo [4,5-b]pyridine (PHIP) and its bacterial metabolite... von WILLENBERG, Ina, VON ELSNER, Leonie, STEINBERG, Pablo, SCHEBB, Nils Helge

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Anti-proliferative Effect of C3 Exoenzyme in Fibroblasts is Mediated by c-Jun Phosphorylation von von Elsner, Leonie, Hagemann, Sandra, Just, Ingo, Rohrbeck, Astrid

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Anti-proliferative Effect of C3 Exoenzyme in Fibroblasts is Mediated by c-Jun Phosphorylation von Von Elsner, Leonie, Hagemann, Sandra, Just, Ingo, Rohrbeck, Astrid

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Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy von Dahimene, Shehrazade, von Elsner, Leonie, Holling, Tess, Mattas, Lauren S, Pickard, Jess, Lessel, Davor, Pilch, Kjara S, Kadurin, Ivan, Pratt, Wendy S, Zhulin, Igor B, Dai, Hongzheng, Hempel, Maja, Ruzhnikov, Maura RZ, Kutsche, Kerstin, Dolphin, Annette C

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