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Author/Creator Doherty, Dan

3. Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center. Issue 3 (March 2018)

Authors:
Strongin, Anna; Heller, Theo; Doherty, Dan; Glass, Ian A.; Parisi, Melissa A.; Bryant, Joy; Choyke, Peter; Turkbey, Baris; Daryanani, Kailash; Yildirimli, Deniz; Vemulapalli, Meghana; Mullikin, Jim C.; Malicdan, May C.; Vilboux, Thierry; Gahl, William A.; Gunay-Aygun, Meral
Journal:
Journal of pediatric gastroenterology and nutrition
Issue:
Volume 66:Issue 3(2018)
Page Start:
Record Type:
Journal Article
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4. 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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7. 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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8. Healthcare recommendations for Joubert syndrome. Issue 1 (11th November 2019)

Authors:
Bachmann‐Gagescu, Ruxandra; Dempsey, Jennifer C.; Bulgheroni, Sara; Chen, Maida L.; D'Arrigo, Stefano; Glass, Ian A.; Heller, Theo; Héon, Elise; Hildebrandt, Friedhelm; Joshi, Nirmal; Knutzen, Dana; Kroes, Hester Y.; Mack, Stephen H.; Nuovo, Sara; Parisi, Melissa A.; Snow, Joseph; Summers, Angela...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 1(2020)
Page Start:
229
Record Type:
Journal Article
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9. 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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10. KIAA0586 is Mutated in Joubert Syndrome. Issue 9 (2nd July 2015)

Authors:
Bachmann‐Gagescu, Ruxandra; Phelps, Ian G.; Dempsey, Jennifer C.; Sharma, Vivek A.; Ishak, Gisele E.; Boyle, Evan A.; Wilson, Meredith; Marques Lourenço, Charles; Arslan, Mutluay; University of Washington Center for Mendelian Genomics; Shendure, Jay; Doherty, Dan
Journal:
Human mutation
Issue:
Volume 36:Issue 9(2015:Sep.)
Page Start:
831
Record Type:
Journal Article
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