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Dan Doherty

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TOP 3
Dan Doherty; Kathleen J Millen; A James Barkovich
Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.
Brian J O'Roak; Ian G Phelps; Ian B Stanaway; Emily H Turner; Laura Vives; Joshua M Akey; Katy Ankenman; Raphael Bernier; Elhanan Borenstein; Gemma Carvill; Bradley P Coe; Dan Doherty; Jarrett D Egertson; Evan E Eichler; Wenqing Fu; Joseph B Hiatt; Niklas Krumm; Akash Kumar; Choli Lee; Roie Levy; Beth K Martin; Heather C Mefford; Jeff Munson; Deborah A Nickerson; Diana R O'Day; Jay Shendure
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
Gordana Juric-Sekhar; Jonathan Adkins; Dan Doherty; Robert Hevner
Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia.

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All Publications

2013: Dan Doherty; Kathleen J Millen; A James Barkovich
Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.
Lancet neurology 2013;12(4):381-93.
2012: Brian J O'Roak; Ian G Phelps; Ian B Stanaway; Emily H Turner; Laura Vives; Joshua M Akey; Katy Ankenman; Raphael Bernier; Elhanan Borenstein; Gemma Carvill; Bradley P Coe; Dan Doherty; Jarrett D Egertson; Evan E Eichler; Wenqing Fu; Joseph B Hiatt; Niklas Krumm; Akash Kumar; Choli Lee; Roie Levy; Beth K Martin; Heather C Mefford; Jeff Munson; Deborah A Nickerson; Diana R O'Day; Jay Shendure
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
Science (New York, N.Y.) 2012;338(6114):1619-22.
2012: Gordana Juric-Sekhar; Jonathan Adkins; Dan Doherty; Robert Hevner
Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia.
Acta neuropathologica 2012;123(5):695-709.
2010: Dan Doherty; Melissa A Parisi; L S Finn; M Gunay-Aygun; M Al-Mateen; D Bates; C Clericuzio; H Demir; Michael O Dorschner; A J van Essen; William A Gahl; M Gentile; N T Gorden; A Hikida; D Knutzen; H Ozyurek; I Phelps; P Rosenthal; Alain Verloes; H Weigand; Phillip F Chance; William B Dobyns; Ian A Glass
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Journal of medical genetics 2010;47(1):8-21.
2009: Karlien L M Coene; Ronald Roepman; Dan Doherty; Bushra Afroze; Hester Y Kroes; Stef J F Letteboer; Lock H Ngu; Bartlomiej Budny; Erwin van Wijk; Nicholas T Gorden; Malika Azhimi; Christel Thauvin-Robinet; Joris Veltman; Mireille Boink; Tjitske Kleefstra; Frans P M Cremers; Hans van Bokhoven; Arjan de Brouwer
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
American journal of human genetics 2009;85(4):465-81.
2009: Dan Doherty
Joubert syndrome: insights into brain development, cilium biology, and complex disease.
Seminars in pediatric neurology 2009;16(3):143-54.
2007: Heleen H Arts; Dan Doherty; Sylvia van Beersum; Melissa A Parisi; Stef J F Letteboer; Nicholas T Gorden; Theo A Peters; Tina Märker; Krysta Voesenek; Aileen Kartono; Hamit Ozyurek; Federico M Farin; Hester Y Kroes; Uwe Wolfrum; Han G Brunner; Frans P M Cremers; Ian A Glass; Nine V A M Knoers; Ronald Roepman
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Nature genetics 2007;39(7):882-8.
2007: Melissa A Parisi; Dan Doherty; Phillip F Chance; Ian A Glass
Joubert syndrome (and related disorders) (OMIM 213300).
European journal of human genetics : EJHG 2007;15(5):511-21.
2006: Melissa A Parisi; Dan Doherty; Melissa L Eckert; Dennis W W Shaw; Hamit Ozyurek; Sabiha Aysun; O Giray; Abdulrahman Alswaid; S Al Shahwan; N Dohayan; E Bakhsh; O S Indridason; William B Dobyns; Craig L Bennett; Phillip F Chance; Ian A Glass
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Journal of medical genetics 2006;43(4):334-9.
2005: Dan Doherty; Ian A Glass; Joseph R Siebert; Peter J Strouse; Melissa A Parisi; Dennis W W Shaw; Phillip F Chance; Mason Barr; David A Nyberg
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
Prenatal diagnosis 2005;25(6):442-7.
2002: Nancy Beaudet; Carl A Brodkin; Bert Stover; Feroza Daroowalla; Joy Flack; Dan Doherty
Crab allergen exposures aboard five crab-processing vessels.
AIHA journal : a journal for the science of occupational and environmental health and safety 2002;63(5):605-9.