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Author/Creator Doherty, Dan

1. Rhombencephalosynapsis: Fused cerebellum, confused geneticists. Issue 4 (22nd December 2018)

Authors:
Aldinger, Kimberly A.; Dempsey, Jennifer C.; Tully, Hannah M.; Grout, Megan E.; Mehaffey, Michele G.; Dobyns, William B.; Doherty, Dan
Other Names:
Boycott Kym guestEditor.; Innes Micheil guestEditor.; Dyment David guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 178:Issue 4(2018)
Page Start:
432
Record Type:
Journal Article
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2. Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. Issue 2 (12th January 2012)

Authors:
Bachmann-Gagescu, Ruxandra; Ishak, Gisele E; Dempsey, Jennifer C; Adkins, Jonathan; O'Day, Diana; Phelps, Ian G; Gunay-Aygun, Meral; Kline, Antonie D; Szczaluba, Krzysztof; Martorell, Loreto; Alswaid, Abdulrahman; Alrasheed, Shatha; Pai, Shashidhar; Izatt, Louise; Ronan, Anne; Parisi, Melissa A; ...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 2(2012)
Page Start:
126
Record Type:
Journal Article
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3. Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. Issue 8 (13th January 2017)

Authors:
Poretti, Andrea; Snow, Joseph; Summers, Angela C; Tekes, Aylin; Huisman, Thierry A G M; Aygun, Nafi; Carson, Kathryn A; Doherty, Dan; Parisi, Melissa A; Toro, Camilo; Yildirimli, Deniz; Vemulapalli, Meghana; Mullikin, Jim C; Cullinane, Andrew R; Vilboux, Thierry; Gahl, William A; Gunay-Aygun, Meral
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 8(2017)
Page Start:
521
Record Type:
Journal Article
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4. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. Issue 3 (16th December 2015)

Authors:
Schueler, Markus; Halbritter, Jan; Phelps, Ian G; Braun, Daniela A; Otto, Edgar A; Porath, Jonathan D; Gee, Heon Yung; Shendure, Jay; O'Roak, Brian J; Lawson, Jennifer A; Nabhan, Marwa M; Soliman, Neveen A; Doherty, Dan; Hildebrandt, Friedhelm
Other Names:
Yalcinkaya F author non-byline.; Bakkaloglu S author non-byline.; Ozaltin F author non-byline.; Comak E author non-byline.; Krull F author non-byline.; Schmitz-Hübner author non-byline.; Rupprecht H author non-byline.; Muller D author non-byline.; Dahlem P author non-byline.; Hoppe B author non-b...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 3(2016)
Page Start:
208
Record Type:
Journal Article
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5. MKS1 regulates ciliary INPP5E levels in Joubert syndrome. Issue 1 (21st October 2015)

Authors:
Slaats, Gisela G; Isabella, Christine R; Kroes, Hester Y; Dempsey, Jennifer C; Gremmels, Hendrik; Monroe, Glen R; Phelps, Ian G; Duran, Karen J; Adkins, Jonathan; Kumar, Sairam A; Knutzen, Dana M; Knoers, Nine V; Mendelsohn, Nancy J; Neubauer, David; Mastroyianni, Sotiria D; Vogt, Julie; Worgan, ...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 1(2016)
Page Start:
62
Record Type:
Journal Article
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6. 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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9. De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. Issue 8 (25th June 2022)

Authors:
Penon‐Portmann, Monica; Eldomery, Mohammad K.; Potocki, Lorraine; Marafi, Dana; Posey, Jennifer E.; Coban‐Akdemir, Zeynep; Harel, Tamar; Grochowski, Christopher M.; Loucks, Hailey; Devine, Walter Patrick; Van Ziffle, Jessica; Doherty, Dan; Lupski, James R.; Shieh, Joseph T.
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 8(2022)
Page Start:
2360
Record Type:
Journal Article
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10. SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum. Issue 9 (21st October 2021)

Authors:
Serpieri, Valentina; D'Abrusco, Fulvio; Dempsey, Jennifer C; Cheng, Yong-Han Hank; Arrigoni, Filippo; Baker, Janice; Battini, Roberta; Bertini, Enrico Silvio; Borgatti, Renato; Christman, Angela K; Curry, Cynthia; D'Arrigo, Stefano; Fluss, Joel; Freilinger, Michael; Gana, Simone; Ishak, Gisele E;...
Other Names:
author non-byline.; Bamshad M J author non-byline.; Leal S M author non-byline.; Nickerson D A author non-byline.; Anderson P author non-byline.; Bacus T J author non-byline.; Blue E E author non-byline.; Brower K author non-byline.; Buckingham K J author non-byline.; Chong J X author non-byline...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 9(2022)
Page Start:
888
Record Type:
Journal Article
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