Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing

Authors: Baalmann, Nadja, Spielmann, Malte, Gillessen- Kaesbach, Gabriele, Hanker, Britta, Schmidt, Julia, Lill, Christina M., Hellenbroich, Yorck, Greiten, Bianca, Lohmann, Katja, Trinh, Joanne, Hüning, Irina

Source: In European Journal of Medical Genetics July 2023 66(7)

Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5

Authors: Lange, Lara M., Schell, Nathalie, Tunc, Sinem, Shoukier, Moneef, Weißbach, Anne, Hellenbroich, Yorck, Brüggemann, Norbert

Source: Movement disorders clinical practice. 9(8):1116-1119

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100165555086.0x000001&indx=1&recIds=ETOCvdc_100165555086.0x000001

Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia

Authors: Pauly, Martje G., Hellenbroich, Yorck, Grundmann‐Hauser, Kathrin, Hinrichs, Frauke, Lohmann, Katja, Brüggemann, Norbert

Source: Movement disorders clinical practice. 8(6):972-976

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100126885515.0x000001&indx=1&recIds=ETOCvdc_100126885515.0x000001

Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy

Authors: Herzog, Rebecca, Hellenbroich, Yorck, Brüggemann, Norbert, Lohmann, Katja, Grimmel, Mona, Haack, Tobias B., Spiczak, Sarah, Münchau, Alexander

Source: Annals of clinical and translational neurology. 8(7):1524-1527

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100123592799.0x000001&indx=1&recIds=ETOCvdc_100123592799.0x000001

ANKRD11 variants: KBG syndrome and beyond

Authors: Parenti, Ilaria, Mallozzi, Mark B., Hüning, Irina, Gervasini, Cristina, Kuechler, Alma, Agolini, Emanuele, Albrecht, Beate, Baquero‐Montoya, Carolina, Bohring, Axel, Bramswig, Nuria C., Busche, Andreas, Dalski, Andreas, Guo, Yiran, Hanker, Britta, Hellenbroich, Yorck, Horn, Denise, Innes, A. Micheil, Leoni, Chiara, Li, Yun R., Lynch, Sally Ann, Mariani, Milena, Medne, Livija, Mikat, Barbara, Milani, Donatella, Onesimo, Roberta, Ortiz‐Gonzalez, Xilma, Prott, Eva Christina, Reutter, Heiko, Rossier, Eva, Selicorni, Angelo, Wieacker, Peter, Wilkens, Alisha, Wieczorek, Dagmar, Zackai, Elaine H., Zampino, Giuseppe, Zirn, Birgit, Hakonarson, Hakon, Deardorff, Matthew A., Gillessen‐Kaesbach, Gabriele, Kaiser, Frank J.

Source: Clinical genetics. 100(2):187-200

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100123088857.0x000001&indx=1&recIds=ETOCvdc_100123088857.0x000001

Repeat length in spinocerebellar ataxia type 4 (SCA4) predicts age at onset and disease severity.

Authors: Dalski, Andreas, Pauly, Martje G., Hanssen, Henrike, Hagenah, Johann, Hellenbroich, Yorck, Schmidt, Christian, Strohschehn, Jassemien, Spielmann, Malte, Zühlke, Christine, Brüggemann, Norbert

Source: Journal of Neurology; Sep2024, Vol. 271 Issue 9, p6289-6300, 12p

Subject Terms: DYSAUTONOMIA, AGE of onset, MEDICAL screening, INVERSE relationships (Mathematics), NUCLEOTIDE sequencing, SPINOCEREBELLAR ataxia

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Authors: Platzer, Konrad, Sticht, Heinrich, Edwards, Stacey L., Allen, William, Angione, Kaitlin M., Bonati, Maria T., Brasington, Campbell, Cho, Megan T., Demmer, Laurie A., Falik-Zaccai, Tzipora, Gamble, Candace N., Hellenbroich, Yorck, Iascone, Maria, Kok, Fernando, Mahida, Sonal, Mandel, Hanna, Marquardt, Thorsten, McWalter, Kirsty, Panis, Bianca, Pepler, Alexander, Pinz, Hailey, Ramos, Luiza, Shinde, Deepali N., Smith-Hicks, Constance, Stegmann, Alexander P.A., Stöbe, Petra, Stumpel, Constance T.R.M., Wilson, Carolyn, Lemke, Johannes R., Di Donato, Nataliya, Miller, Kenneth G., Jamra, Rami

Source: In The American Journal of Human Genetics 7 February 2019 104(2):203-212

Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema

Authors: Recke, Andreas, Massalme, Elisabeth, Jappe, Uta, Steinmüller-Magin, Lars, Schmidt, Julia, Hellenbroich, Yorck, Hüning, Irina, Gillessen-Kaesbach, Gabriele, Zillikens, Detlef, Hartmann, Karin

Source: Clinical and translational allergy. 9(1):1-4

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185614904.0x000001&indx=1&recIds=ETOCvdc_100185614904.0x000001

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Authors: Schmidt, Axel, Danyel, Magdalena, Grundmann, Kathrin, Brunet, Theresa, Klinkhammer, Hannah, Hsieh, Tzung-Chien, Engels, Hartmut, Peters, Sophia, Knaus, Alexej, Moosa, Shahida, Averdunk, Luisa, Boschann, Felix, Sczakiel, Henrike Lisa, Schwartzmann, Sarina, Mensah, Martin Atta, Pantel, Jean Tori, Holtgrewe, Manuel, Bösch, Annemarie, Weiß, Claudia, Weinhold, Natalie, Suter, Aude-Annick, Stoltenburg, Corinna, Neugebauer, Julia, Kallinich, Tillmann, Kaindl, Angela M., Holzhauer, Susanne, Bührer, Christoph, Bufler, Philip, Kornak, Uwe, Ott, Claus-Eric, Schülke, Markus, Nguyen, Hoa Huu Phuc, Hoffjan, Sabine, Grasemann, Corinna, Rothoeft, Tobias, Brinkmann, Folke, Matar, Nora, Sivalingam, Sugirthan, Perne, Claudia, Mangold, Elisabeth, Kreiss, Martina, Cremer, Kirsten, Betz, Regina C., Mücke, Martin, Grigull, Lorenz, Klockgether, Thomas, Spier, Isabel, Heimbach, André, Bender, Tim, Brand, Fabian, Stieber, Christiane, Morawiec, Alexandra Marzena, Karakostas, Pantelis, Schäfer, Valentin S., Bernsen, Sarah, Weydt, Patrick, Castro-Gomez, Sergio, Aziz, Ahmad, Grobe-Einsler, Marcus, Kimmich, Okka, Kobeleva, Xenia, Önder, Demet, Lesmann, Hellen, Kumar, Sheetal, Tacik, Pawel, Basin, Meghna Ahuja, Incardona, Pietro, Lee-Kirsch, Min Ae, Berner, Reinhard, Schuetz, Catharina, Körholz, Julia, Kretschmer, Tanita, Di Donato, Nataliya, Schröck, Evelin, Heinen, André, Reuner, Ulrike, Hanßke, Amalia-Mihaela, Kaiser, Frank J., Manka, Eva, Munteanu, Martin, Kuechler, Alma, Cordula, Kiewert, Hirtz, Raphael, Schlapakow, Elena, Schlein, Christian, Lisfeld, Jasmin, Kubisch, Christian, Herget, Theresia, Hempel, Maja, Weiler-Normann, Christina, Ullrich, Kurt, Schramm, Christoph, Rudolph, Cornelia, Rillig, Franziska, Groffmann, Maximilian, Muntau, Ania, Tibelius, Alexandra, Schwaibold, Eva M. C., Schaaf, Christian P., Zawada, Michal, Kaufmann, Lilian, Hinderhofer, Katrin, Okun, Pamela M., Kotzaeridou, Urania, Hoffmann, Georg F., Choukair, Daniela, Bettendorf, Markus, Spielmann, Malte, Ripke, Annekatrin, Pauly, Martje, Münchau, Alexander, Lohmann, Katja, Hüning, Irina, Hanker, Britta, Bäumer, Tobias, Herzog, Rebecca, Hellenbroich, Yorck, Westphal, Dominik S., Strom, Tim, Kovacs, Reka, Riedhammer, Korbinian M., Mayerhanser, Katharina, Graf, Elisabeth, Brugger, Melanie, Hoefele, Julia, Oexle, Konrad, Mirza-Schreiber, Nazanin, Berutti, Riccardo, Schatz, Ulrich, Krenn, Martin, Makowski, Christine, Weigand, Heike, Schröder, Sebastian, Rohlfs, Meino, Vill, Katharina, Hauck, Fabian, Borggraefe, Ingo, Müller-Felber, Wolfgang, Kurth, Ingo, Elbracht, Miriam, Knopp, Cordula, Begemann, Matthias, Kraft, Florian, Lemke, Johannes R., Hentschel, Julia, Platzer, Konrad, Strehlow, Vincent, Abou Jamra, Rami, Kehrer, Martin, Demidov, German, Beck-Wödl, Stefanie, Graessner, Holm, Sturm, Marc, Zeltner, Lena, Schöls, Ludger J., Magg, Janine, Bevot, Andrea, Kehrer, Christiane, Kaiser, Nadja, Turro, Ernest, Horn, Denise, Grüters-Kieslich, Annette, Klein, Christoph, Mundlos, Stefan, Nöthen, Markus, Riess, Olaf, Meitinger, Thomas, Krude, Heiko, Krawitz, Peter M., Haack, Tobias, Ehmke, Nadja, Wagner, Matias

Source: Nature Genetics; August 2024, Vol. 56 Issue: 8 p1644-1653, 10p

An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?

Authors: Paulus, Theresa, Young, Natalie, Jessop, Emily, Berwanger, Carolin, Clemen, Christoph Stephan, Schröder, Rolf, Ploski, Rafal, Hagel, Christian, Hellenbroich, Yorck, Moser, Andreas, Karakesisoglou, Iakowos

Source: Muscles (2813-0413); Mar2024, Vol. 3 Issue 1, p100-109, 10p

Subject Terms: MYALGIA, NUCLEAR shapes, NUCLEAR membranes, MUSCULAR dystrophy, MUSCLE diseases, GLYCOGEN storage disease type II

Lymphangioma of the fetal neck within the PIK3CA‐related‐overgrowth spectrum (PROS): A case report

Authors: Scharf, Jann Lennard, Gembicki, Michael, Dracopoulos, Christoph, Hellenbroich, Yorck, Offermann, Anne, Stichtenoth, Guido, Tafazzoli‐Lari, Kianusch, Tharun, Lars, Weichert, Jan

Source: Clinical case reports. 9(7)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100124870984.0x000001&indx=1&recIds=ETOCvdc_100124870984.0x000001

A GGC-repeat expansion in ZFHX3encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy

Authors: Figueroa, Karla P., Gross, Caspar, Buena-Atienza, Elena, Paul, Sharan, Gandelman, Mandi, Kakar, Naseebullah, Sturm, Marc, Casadei, Nicolas, Admard, Jakob, Park, Joohyun, Zühlke, Christine, Hellenbroich, Yorck, Pozojevic, Jelena, Balachandran, Saranya, Händler, Kristian, Zittel, Simone, Timmann, Dagmar, Erdlenbruch, Friedrich, Herrmann, Laura, Feindt, Thomas, Zenker, Martin, Klopstock, Thomas, Dufke, Claudia, Scoles, Daniel R., Koeppen, Arnulf, Spielmann, Malte, Riess, Olaf, Ossowski, Stephan, Haack, Tobias B., Pulst, Stefan M.

Source: Nature Genetics; 20240101, Issue: Preprints p1-10, 10p

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene

Authors: Caliebe, Almuth, Kroes, Hester Y., van der Smagt, Jasper J., Martin-Subero, José I., Tönnies, Holger, van ’t Slot, Ruben, Nievelstein, Rutger A.J., Muhle, Hiltrud, Stephani, Ulrich, Alfke, Karsten, Stefanova, Irina, Hellenbroich, Yorck, Gillessen-Kaesbach, Gabriele, Hochstenbach, Ron, Siebert, Reiner, Poot, Martin

Source: In European Journal of Medical Genetics 2010 53(4):179-185

Kapitel 16 - Kongenitale Schäden und Erkrankungen der Kochlea und des Vestibularorgans

Authors: Schönweiler, Rainer, Hellenbroich, Yorck

Source: In Pädiatrische HNO-Heilkunde Edition: Second Edition. 2019:119-134

Clinical spectrum of the pentanucleotide repeat expansion in the gene in ataxia syndromes.

Authors: Gisatulin, Maria, Dobricic, Valerija, Zühlke, Christine, Hellenbroich, Yorck, Tadic, Vera, Münchau, Alexander, Isenhardt, Klaus, Bürk, Katrin, Bahlo, Melanie, Lockhart, Paul J., Lohmann, Katja, Helmchen, Christoph, Brüggemann, Norbert

Source: Neurology; 11/24/2020, Vol. 95 Issue 21, pe2912-e2923, 12p

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.

Authors: Zühlke, Christine, Hellenbroich, Yorck, Dalski, Andreas, Hagenah, Johann, Vieregge, Peter, Riess, Olaf, Klein, Christine, Schwinger, Eberhard

Source: European Journal of Human Genetics. Mar2001, Vol. 9 Issue 3, p160. 5p.

Subject Terms: *ATAXIA, *CARRIER proteins

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Adressen

Authors: Anderhuber, Wolfgang, Bassler, Dirk, Baumeister, Philipp, Brisch, Karl Heinz, Dellian, Marc, Dietz, Hans-Georg, Dürken, Matthias, Ehrenfeld, M., Federspil, Philippe, Fischer, Helmut, Fuchs, Michael, Götte, Karl, Griese, Matthias, Gubisch, Wolfgang, Haack, Sebastian, Harréus, Ulrich, Hellenbroich, Yorck, Jochumsen, Ulla, Keilmann, Annerose, Klimek, Ludger, Koletzko, Sibylle, Lang, Florian J.W., Liese, Johannes G., Magritz, Ralph, Maurer, Joachim T., May, Angelika, Müller, Joachim, Mutius, Erika von, Neumann, Katrin, Nickisch, Andreas, Nicolai, Thomas, Omran, Heymut, Paditz, Ekkehart, Ptok, Martin, Reichel, Oliver, Reiter, Maximilian, Schepers, Kelly, Schmidt, Heinrich, Schneider, Karl, Schönweiler, Rainer, Siegert, Ralf, Weber, Alexander, Werner, Claudius, Wiesner, Thomas, Wolf, Axel, Wolf, Gerald, Zahnert, Thomas, Zorowka, Patrick

Source: In Pädiatrische HNO-Heilkunde Edition: Second Edition. 2019:VII-IX

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