10 selected publications:

• Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
  Sanderson LE*, Lanko K*, Alsagob M*, Almass R*, Al-Ahmadi N*, Najafi M, Al-Muhaizea MA, Alzaidan H, AlDhalaan H, Perenthaler E,…, Maroofian R, Houlden H, Bertoli-Avella AM, Schmidts M#, Barakat TS#, van Ham TJ#, Kaya N# (2021).
  Brain. 144(3):769-780.
• MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
  Rad A*, Altunoglu U*, Miller R*, Maroofian R, …,Gleeson JG, Hauser N, Gunel M, Kayserili H#, Schmidts M# (2019).
  J Med Genet. 56(5):332-339.
• Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
  Rehman AU, Najafi M, Kambouris M, Al-Gazali L, …, Antonarakis SE, Hertecant J, Walkiewicz M, Yang Y#, and Schmidts M# (2019).
  Hum Mutat 40, 267-280
• Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
  Loges NT*, Antony D*, Maver A, Deardorff MA, Güleç EY, …, Omran H#, and Schmidts M#.
  (2018) Am J Hum Genet 103, 995-1008.
• Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
  Paff T*, Loges NT*, Aprea I, Wu K, Bakey Z, …, Pals G, Schmidts M#, Omran H#, and Micha D# (2017).
  Am J Hum Genet 100, 160-168
• An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
  Wheway G*, Schmidts M*, Mans DA*, Szymanska K*, Nguyen TT*, Racher H, Phelps IG, Toedt G, Kennedy J, …, Doherty D*, Mitchison HM*, Roepman R*, Johnson CA* (2015)
  Nat Cell Biol. 17(8):1074-1087.
• TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
  Schmidts M*, Hou Y*, Cortés CR, Mans DA, Huber C, …, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM*, Witman GB* (2015). Nat Commun. 5;6:7074.
• Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
  Schmidts M, Vodopiutz J, Christou-Savina S, Cortes CR, McInerney-Leo AM, …, Scambler PJ, Brown MA, Beales PL, Wicking C#, Duncan EL#, and Mitchison HM# (2013)
  Am J Hum Genet 93, 932-944.
• Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
  Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, …,, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, and Bergmann C (2013).
  Hum Mutat 34, 714-724.
• Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
  Mitchison HM, Schmidts M, Loges NT, Freshour J, Dritsoula A, Hirst RA, O'Callaghan C, Blau H, Al Dabbagh M, Olbrich H, Beales PL, Yagi T, Mussaffi H, Chung EM, Omran H#, and Mitchell DR# (2012).
  Nat Genet 44, 381-389.