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Author/Creator Schmidts, Miriam

1. A recurrent homozygous missense DPM3 variant leads to muscle and brain disease. Issue 6 (19th August 2022)

Authors:
Nagy, Sara; Lau, Tracy; Alavi, Shahryar; Karimiani, Ehsan Ghayoor; Vallian, Jalal; Ng, Bobby G.; Noroozi Asl, Samaneh; Akhondian, Javad; Bahreini, Amir; Yaghini, Omid; Uapinyoying, Prech; Bonnemann, Carsten; Freeze, Hudson H.; Dissanayake, Vajira H. W.; Sirisena, Nirmala D.; Schmidts, Miriam; Hou...
Journal:
Clinical genetics
Issue:
Volume 102:Issue 6(2022)
Page Start:
530
Record Type:
Journal Article
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3. Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. Issue 3 (25th December 2018)

Authors:
Rehman, Atteeq U.; Najafi, Maryam; Kambouris, Marios; Al‐Gazali, Lihadh; Makrythanasis, Periklis; Rad, Abolfazl; Maroofian, Reza; Rajab, Anna; Stark, Zornitza; Hunter, Jill V.; Bakey, Zeineb; Tokita, Mari J.; He, Weimin; Vetrini, Francesco; Petersen, Andrea; Santoni, Federico A.; Hamamy, Hanan; W...
Journal:
Human mutation
Issue:
Volume 40:Issue 3(2019)
Page Start:
267
Record Type:
Journal Article
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4. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. Issue 1 (7th November 2013)

Authors:
Onoufriadis, Alexandros; Shoemark, Amelia; Munye, Mustafa M; James, Chela T; Schmidts, Miriam; Patel, Mitali; Rosser, Elisabeth M; Bacchelli, Chiara; Beales, Philip L; Scambler, Peter J; Hart, Stephen L; Danke-Roelse, Jeannette E; Sloper, John J; Hull, Sarah; Hogg, Claire; Emes, Richard D; Pals, ...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 1(2014)
Page Start:
61
Record Type:
Journal Article
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5. Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease. Issue 5 (11th April 2013)

Authors:
Schmidts, Miriam; Frank, Valeska; Eisenberger, Tobias; al Turki, Saeed; Bizet, Albane A.; Antony, Dinu; Rix, Suzanne; Decker, Christian; Bachmann, Nadine; Bald, Martin; Vinke, Tobias; Toenshoff, Burkhard; Di Donato, Natalia; Neuhann, Theresa; Hartley, Jane L.; Maher, Eamonn R.; Bogdanović, Radova...
Journal:
Human mutation
Issue:
Volume 34:Issue 5(2013:May)
Page Start:
714
Record Type:
Journal Article
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6. Cover Image, Volume 40, Issue 3. Issue 3 (10th February 2019)

Authors:
Rehman, Atteeq U.; Najafi, Maryam; Kambouris, Marios; Al‐Gazali, Lihadh; Makrythanasis, Periklis; Rad, Abolfazl; Maroofian, Reza; Rajab, Anna; Stark, Zornitza; Hunter, Jill V.; Bakey, Zeineb; Tokita, Mari J.; He, Weimin; Vetrini, Francesco; Petersen, Andrea; Santoni, Federico A.; Hamamy, Hanan; W...
Journal:
Human mutation
Issue:
Volume 40:Issue 3(2019)
Page Start:
i
Record Type:
Journal Article
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7. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes. Issue 9 (8th June 2022)

Authors:
Scala, Marcello; Drouot, Nathalie; MacLennan, Suzanna C.; Wessels, Marja W.; Krygier, Magdalena; Pavinato, Lisa; Telegrafi, Aida; de Man, Stella A.; van Slegtenhorst, Marjon; Iacomino, Michele; Madia, Francesca; Scudieri, Paolo; Uva, Paolo; Giacomini, Thea; Nobile, Giulia; Mancardi, Maria Margher...
Journal:
Human mutation
Issue:
Volume 43:Issue 9(2022)
Page Start:
1299
Record Type:
Journal Article
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8. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. Issue 5 (1st March 2013)

Authors:
Schmidts, Miriam; Arts, Heleen H; Bongers, Ernie M H F; Yap, Zhimin; Oud, Machteld M; Antony, Dinu; Duijkers, Lonneke; Emes, Richard D; Stalker, Jim; Yntema, Jan-Bart L; Plagnol, Vincent; Hoischen, Alexander; Gilissen, Christian; Forsythe, Elisabeth; Lausch, Ekkehart; Veltman, Joris A; Roeleveld,...
Other Names:
contributor.
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 5(2013)
Page Start:
309
Record Type:
Journal Article
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9. High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Issue 2 (8th August 2017)

Authors:
Shoemark, Amelia; Moya, Eduardo; Hirst, Robert A; Patel, Mitali P; Robson, Evelyn A; Hayward, Jane; Scully, Juliet; Fassad, Mahmoud R; Lamb, William; Schmidts, Miriam; Dixon, Mellisa; Patel-King, Ramila S; Rogers, Andrew V; Rutman, Andrew; Jackson, Claire L; Goggin, Patricia; Rubbo, Bruna; Olloss...
Journal:
Thorax
Issue:
Volume 73:Issue 2(2018)
Page Start:
157
Record Type:
Journal Article
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10. Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Issue 12 (1st November 2020)

Authors:
Epting, Daniel; Senaratne, Lokuliyange D. S.; Ott, Elisabeth; Holmgren, Asbjørn; Sumathipala, Dulika; Larsen, Selma M.; Wallmeier, Julia; Bracht, Diana; Frikstad, Kari‐Anne M.; Crowley, Suzanne; Sikiric, Alma; Barøy, Tuva; Käsmann‐Kellner, Barbara; Decker, Eva; Decker, Christian; Bachmann, Nadine...
Journal:
Human mutation
Issue:
Volume 41:Issue 12(2020)
Page Start:
2179
Record Type:
Journal Article
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