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Author/Creator Hoischen, Alexander

1. Author Correction: Parent-of-origin-specific signatures of de novo mutations. (November 2018)

Authors:
Goldmann, Jakob; Wong, Wendy; Pinelli, Michele; Farrah, Terry; Bodian, Dale; Stittrich, Anna; Glusman, Gustavo; Vissers, Lisenka; Hoischen, Alexander; Roach, Jared; Vockley, Joseph; Veltman, Joris; Solomon, Benjamin; Gilissen, Christian; Niederhuber, John
Journal:
Nature genetics
Issue:
Volume 50:Number 11(2018)
Page Start:
1615
Record Type:
Journal Article
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2. Identification of Restless Legs Syndrome Genes by Mutational Load Analysis. Issue 2 (19th December 2019)

Authors:
Tilch, Erik; Schormair, Barbara; Zhao, Chen; Salminen, Aaro V.; Antic Nikolic, Ana; Holzknecht, Evi; Högl, Birgit; Poewe, Werner; Bachmann, Cornelius G.; Paulus, Walter; Trenkwalder, Claudia; Oertel, Wolfgang H.; Hornyak, Magdolna; Fietze, Ingo; Berger, Klaus; Lichtner, Peter; Gieger, Christian; ...
Journal:
Annals of neurology
Issue:
Volume 87:Issue 2(2020)
Page Start:
184
Record Type:
Journal Article
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3. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. (January 2018)

Authors:
Jansen, Sandra; Hoischen, Alexander; Coe, Bradley; Carvill, Gemma; Esch, Hilde; Bosch, Daniëlle; Andersen, Ulla; Baker, Carl; Bauters, Marijke; Bernier, Raphael; Bon, Bregje; Claahsen-van der Grinten, Hedi; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen...
Journal:
European journal of human genetics
Issue:
Volume 26:Number 1(2018)
Page Start:
54
Record Type:
Journal Article
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4. Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease. Issue 12 (13th August 2018)

Authors:
Nicolas, Gaël; Acuña‐Hidalgo, Rocío; Keogh, Michael J.; Quenez, Olivier; Steehouwer, Marloes; Lelieveld, Stefan; Rousseau, Stéphane; Richard, Anne‐Claire; Oud, Manon S.; Marguet, Florent; Laquerrière, Annie; Morris, Chris M.; Attems, Johannes; Smith, Colin; Ansorge, Olaf; Al Sarraj, Safa; Frebour...
Journal:
Alzheimer's & dementia
Issue:
Volume 14:Issue 12(2018)
Page Start:
1632
Record Type:
Journal Article
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5. Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors. Issue 2 (29th July 2021)

Authors:
Sabatella, Mariangela; Mantere, Tuomo; Waanders, Esmé; Neveling, Kornelia; Mensenkamp, Arjen R; van Dijk, Freerk; Hehir‐Kwa, Jayne Y; Derks, Ronnie; Kwint, Michael; O'Gorman, Luke; Tropa Martins, Madalena; Gidding, Corrie EM; Lequin, Maarten H; Küsters, Benno; Wesseling, Pieter; Nelen, Marcel; Bi...
Journal:
Journal of pathology
Issue:
Volume 255:Issue 2(2021)
Page Start:
202
Record Type:
Journal Article
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6. Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA). Issue 5 (10th February 2015)

Authors:
Tylki-Szymańska, Anna; Acuna-Hidalgo, Rocio; Krajewska-Walasek, Małgorzata; Lecka-Ambroziak, Agnieszka; Steehouwer, Marloes; Gilissen, Christian; Brunner, Han G; Jurecka, Agnieszka; Różdżyńska-Świątkowska, Agnieszka; Hoischen, Alexander; Chrzanowska, Krystyna H
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 5(2015)
Page Start:
312
Record Type:
Journal Article
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7. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Issue 12 (26th October 2017)

Authors:
Bruel, Ange-Line; Bigoni, Stefania; Kennedy, Joanna; Whiteford, Margo; Buxton, Chris; Parmeggiani, Giulia; Wherlock, Matt; Woodward, Geoff; Greenslade, Mark; Williams, Maggie; St-Onge, Judith; Ferlini, Alessandra; Garani, Giampaolo; Ballardini, Elisa; van Bon, Bregje W; Acuna-Hidalgo, Rocio; Bohr...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 12(2017)
Page Start:
830
Record Type:
Journal Article
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9. Clonal Hematopoiesis Is Associated With Low CD4 Nadir and Increased Residual HIV Transcriptional Activity in Virally Suppressed Individuals With HIV. (21st August 2021)

Authors:
van der Heijden, Wouter A; van Deuren, Rosanne C; van de Wijer, Lisa; van den Munckhof, Inge C L; Steehouwer, Marloes; Riksen, Niels P; Netea, Mihai G; de Mast, Quirijn; Vandekerckhove, Linos; de Voer, Richarda M; van der Ven, Andre J; Hoischen, Alexander
Journal:
Journal of infectious diseases
Issue:
Volume 225:Number 8(2022)
Page Start:
1339
Record Type:
Journal Article
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10. The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene. Issue 2 (28th October 2021)

Authors:
Stevens, Servi J. C.; Stumpel, Constance T. R. M.; Diderich, Karin E. M.; van Slegtenhorst, Marjon A.; Abbott, Mary‐Alice; Manning, Courtney; Balciuniene, Jorune; Pyle, Louise C.; Leonard, Jacqueline; Murrell, Jill R.; van de Putte, Romy; van Rooij, Iris A. L. M.; Hoischen, Alexander; Lasko, Paul...
Journal:
Clinical genetics
Issue:
Volume 101:Issue 2(2022)
Page Start:
183
Record Type:
Journal Article
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