114 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, ... ... Doherty D, et al. Redefining the Etiologic Landscape of Cerebellar Malformations. American Journal of Human Genetics. PMID 31474318 DOI: 10.1016/j.ajhg.2019.07.019  1
2019 Dines JN, Liu YJ, Neufeld-Kaiser W, Sawyer T, Ishak GE, Tully HM, Racobaldo M, Sanchez-Valle A, Disteche CM, Juusola J, Torti E, McWalter K, Doherty D, Dipple KM. Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome. American Journal of Medical Genetics. Part A. PMID 31294511 DOI: 10.1002/ajmg.a.61281  0.52
2018 Aldinger KA, Dempsey JC, Tully HM, Grout ME, Mehaffey MG, Dobyns WB, Doherty D. Rhombencephalosynapsis: Fused cerebellum, confused geneticists. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 178: 432-439. PMID 30580482 DOI: 10.1002/ajmg.c.31666  0.92
2018 LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, ... Doherty D, et al. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. American Journal of Human Genetics. PMID 30554721 DOI: 10.1016/j.ajhg.2018.11.005  0.52
2018 Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, ... ... Doherty D, et al. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. American Journal of Human Genetics. PMID 30471716 DOI: 10.1016/j.ajhg.2018.10.019  0.92
2017 Milev MP, Grout ME, Saint-Dic D, Cheng YH, Glass IA, Hale CJ, Hanna DS, Dorschner MO, Prematilake K, Shaag A, Elpeleg O, Sacher M, Doherty D, Edvardson S. Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction. American Journal of Human Genetics. 101: 291-299. PMID 28777934 DOI: 10.1016/j.ajhg.2017.07.006  0.4
2017 Phelps IG, Dempsey JC, Grout ME, Isabella CR, Tully HM, Doherty D, Bachmann-Gagescu R. Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28771248 DOI: 10.1038/gim.2017.94  0.52
2017 Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, ... ... Doherty D, et al. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. American Journal of Human Genetics. PMID 28625504 DOI: 10.1016/j.ajhg.2017.05.010  0.92
2017 Dempsey JC, Phelps IG, Bachmann-Gagescu R, Glass IA, Tully HM, Doherty D. Mortality in Joubert syndrome. American Journal of Medical Genetics. Part A. PMID 28371402 DOI: 10.1002/ajmg.a.38158  0.52
2017 Kane MS, Davids M, Bond MR, Adams CJ, Grout ME, Phelps IG, O'Day DR, Dempsey JC, Li X, Golas G, Vezina G, Gunay-Aygun M, Hanover JA, Doherty D, He M, et al. Abnormal glycosylation in Joubert syndrome type 10. Cilia. 6: 2. PMID 28344780 DOI: 10.1186/s13630-017-0048-6  0.52
2016 Tully HM, Wenger TL, Kukull WA, Doherty D, Dobyns WB. Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage. Neurosurgical Focus. 41: E5. PMID 27798978 DOI: 10.3171/2016.8.FOCUS16241  0.52
2016 Chapman T, Perez FA, Ishak GE, Doherty D. Prenatal diagnosis of Chudley-McCullough syndrome. American Journal of Medical Genetics. Part A. PMID 27312216 DOI: 10.1002/ajmg.a.37806  0.52
2016 Aldinger KA, Doherty D. The genetics of cerebellar malformations. Seminars in Fetal & Neonatal Medicine. PMID 27160001 DOI: 10.1016/j.siny.2016.04.008  0.92
2016 Chong JX, Caputo V, Phelps IG, Stella L, Worgan L, Dempsey JC, Nguyen A, Leuzzi V, Webster R, Pizzuti A, Marvin CT, Ishak GE, Ardern-Holmes S, Richmond Z, ... ... Doherty D, et al. Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. American Journal of Human Genetics. PMID 27040692 DOI: 10.1016/j.ajhg.2016.01.016  1
2015 Schueler M, Halbritter J, Phelps IG, Braun DA, Otto EA, Porath JD, Gee HY, Shendure J, O'Roak BJ, Lawson JA, Nabhan MM, Soliman NA, Nabhan MM, Doherty D, Hildebrandt F. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. Journal of Medical Genetics. PMID 26673778 DOI: 10.1136/jmedgenet-2015-103304  1
2015 Ayonrinde OT, Adams LA, Doherty DA, Mori TA, Beilin LJ, Oddy WH, Hickey M, Sloboda DM, Olynyk JK, Hart R. Adolescent females with NAFLD and PCOS have an adverse metabolic phenotype compared with other females and males. Journal of Gastroenterology and Hepatology. PMID 26589977 DOI: 10.1111/jgh.13241  0.36
2015 Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, ... ... Doherty D, et al. MKS1 regulates ciliary INPP5E levels in Joubert syndrome. Journal of Medical Genetics. PMID 26490104 DOI: 10.1136/jmedgenet-2015-103250  1
2015 Bachmann-Gagescu R, Dona M, Hetterschijt L, Tonnaer E, Peters T, de Vrieze E, Mans DA, van Beersum SE, Phelps IG, Arts HH, Keunen JE, Ueffing M, Roepman R, Boldt K, Doherty D, et al. The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking. Plos Genetics. 11: e1005575. PMID 26485645 DOI: 10.1371/journal.pgen.1005575  1
2015 Nixon JN, Dempsey JC, Doherty D, Ishak GE. Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia. Neuroradiology. PMID 26458891 DOI: 10.1007/s00234-015-1604-7  1
2015 Hart RJ, Doherty DA, McLachlan RI, Walls ML, Keelan JA, Dickinson JE, Skakkebaek NE, Norman RJ, Handelsman DJ. Testicular function in a birth cohort of young men. Human Reproduction (Oxford, England). PMID 26409015 DOI: 10.1093/humrep/dev244  0.36
2015 Tully HM, Ishak GE, Rue TC, Dempsey JC, Browd SR, Millen KJ, Doherty D, Dobyns WB. Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences. Journal of Child Neurology. PMID 26184484 DOI: 10.1177/0883073815592222  1
2015 Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, ... ... Doherty D, et al. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nature Cell Biology. PMID 26167768 DOI: 10.1038/ncb3201  1
2015 Oegema R, Cushion TD, Phelps IG, Chung SK, Dempsey JC, Collins S, Mullins JG, Dudding T, Gill H, Green AJ, Dobyns WB, Ishak GE, Rees MI, Doherty D. Recognisable cerebellar dysplasia associated with mutations in multiple tubulin genes. Human Molecular Genetics. PMID 26130693 DOI: 10.1093/hmg/ddv250  1
2015 Bachmann-Gagescu R, Phelps IG, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, Wilson M, Marques Lourenço C, Arslan M, Shendure J, Doherty D. KIAA0586 is Mutated in Joubert Syndrome. Human Mutation. PMID 26096313 DOI: 10.1002/humu.22821  1
2015 Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, ... ... Doherty D, et al. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. Journal of Medical Genetics. PMID 26092869 DOI: 10.1136/jmedgenet-2015-103087  1
2015 Doherty DA, Newnham JP, Bower C, Hart R. Implications of polycystic ovary syndrome for pregnancy and for the health of offspring. Obstetrics and Gynecology. 125: 1397-406. PMID 26000511 DOI: 10.1097/AOG.0000000000000852  0.36
2015 Pan L, Shah AN, Phelps IG, Doherty D, Johnson EA, Moens CB. Rapid identification and recovery of ENU-induced mutations with next-generation sequencing and Paired-End Low-Error analysis. Bmc Genomics. 16: 83. PMID 25886285 DOI: 10.1186/s12864-015-1263-4  1
2015 Schulzke SM, Deshmukh M, Nathan EA, Doherty DA, Patole SK. Nebulized pentoxifylline for reducing the duration of oxygen supplementation in extremely preterm neonates. The Journal of Pediatrics. 166: 1158-1162.e2. PMID 25748566 DOI: 10.1016/j.jpeds.2015.01.040  0.36
2015 Poretti A, Denecke J, Miller DC, Schiffmann H, Buhk JH, Grange DK, Doherty D, Boltshauser E. Brainstem disconnection: two additional patients and expansion of the phenotype. Neuropediatrics. 46: 139-44. PMID 25671339 DOI: 10.1055/s-0034-1544127  1
2014 Payne MS, Feng Z, Li S, Doherty DA, Xu B, Li J, Liu L, Keelan JA, Zhou YH, Dickinson JE, Hu Y, Newnham JP. Second trimester amniotic fluid cytokine concentrations, Ureaplasma sp. colonisation status and sexual activity as predictors of preterm birth in Chinese and Australian women. Bmc Pregnancy and Childbirth. 14: 340. PMID 25273669 DOI: 10.1186/1471-2393-14-340  0.36
2014 Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, ... ... Doherty D, et al. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. American Journal of Human Genetics. 95: 227-34. PMID 25105227 DOI: 10.1016/j.ajhg.2014.07.007  1
2014 Dickinson JE, Jennings BG, Doherty DA. Mifepristone and oral, vaginal, or sublingual misoprostol for second-trimester abortion: a randomized controlled trial. Obstetrics and Gynecology. 123: 1162-8. PMID 24807339 DOI: 10.1097/AOG.0000000000000290  0.36
2014 Stratigopoulos G, Martin Carli JF, O'Day DR, Wang L, Leduc CA, Lanzano P, Chung WK, Rosenbaum M, Egli D, Doherty DA, Leibel RL. Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice. Cell Metabolism. 19: 767-79. PMID 24807221 DOI: 10.1016/j.cmet.2014.04.009  1
2014 Patole S, Keil AD, Chang A, Nathan E, Doherty D, Simmer K, Esvaran M, Conway P. Effect of Bifidobacterium breve M-16V supplementation on fecal bifidobacteria in preterm neonates--a randomised double blind placebo controlled trial. Plos One. 9: e89511. PMID 24594833 DOI: 10.1371/journal.pone.0089511  0.36
2014 Gower S, Bartu A, Ilett KF, Doherty D, McLaurin R, Hamilton D. The wellbeing of infants exposed to buprenorphine via breast milk at 4 weeks of age. Journal of Human Lactation : Official Journal of International Lactation Consultant Association. 30: 217-23. PMID 24399105 DOI: 10.1177/0890334413517748  0.36
2014 Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, ... ... Doherty D, et al. Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics. 94: 62-72. PMID 24360808 DOI: 10.1016/j.ajhg.2013.11.019  1
2014 White CR, Doherty DA, Newnham JP, Pennell CE. The impact of introducing universal umbilical cord blood gas analysis and lactate measurement at delivery. The Australian & New Zealand Journal of Obstetrics & Gynaecology. 54: 71-8. PMID 24111748 DOI: 10.1111/ajo.12132  0.36
2014 Hart R, Doherty DA, Frederiksen H, Keelan JA, Hickey M, Sloboda D, Pennell CE, Newnham JP, Skakkebaek NE, Main KM. The influence of antenatal exposure to phthalates on subsequent female reproductive development in adolescence: a pilot study. Reproduction (Cambridge, England). 147: 379-90. PMID 24025997 DOI: 10.1530/REP-13-0331  0.36
2014 Marino JL, Saunders CM, Emery LI, Green H, Doherty DA, Hickey M. Nature and severity of menopausal symptoms and their impact on quality of life and sexual function in cancer survivors compared with women without a cancer history. Menopause (New York, N.Y.). 21: 267-74. PMID 23860358 DOI: 10.1097/GME.0b013e3182976f46  0.36
2013 Li S, Sloboda DM, Moss TJ, Nitsos I, Polglase GR, Doherty DA, Newnham JP, Challis JR, Braun T. Effects of glucocorticoid treatment given in early or late gestation on growth and development in sheep. Journal of Developmental Origins of Health and Disease. 4: 146-56. PMID 25054681 DOI: 10.1017/S204017441200075X  0.36
2013 Marino JL, Skinner SR, Doherty DA, Rosenthal SL, Cooper Robbins SC, Cannon J, Hickey M. Age at menarche and age at first sexual intercourse: a prospective cohort study. Pediatrics. 132: 1028-36. PMID 24218473 DOI: 10.1542/peds.2012-3634  0.36
2013 Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, ... ... Doherty D, et al. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. American Journal of Human Genetics. 93: 915-25. PMID 24140113 DOI: 10.1016/j.ajhg.2013.09.012  1
2013 Tully HM, Dempsey JC, Ishak GE, Adam MP, Mink JW, Dobyns WB, Gospe SM, Weiss A, Phillips JO, Doherty D. Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 2019-23. PMID 24105968 DOI: 10.1002/mds.25634  1
2013 Tuz K, Hsiao YC, Juárez O, Shi B, Harmon EY, Phelps IG, Lennartz MR, Glass IA, Doherty D, Ferland RJ. The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. The Journal of Biological Chemistry. 288: 13676-94. PMID 23532844 DOI: 10.1074/jbc.M112.420786  1
2013 Doherty D, Millen KJ, Barkovich AJ. Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics. The Lancet. Neurology. 12: 381-93. PMID 23518331 DOI: 10.1016/S1474-4422(13)70024-3  1
2013 White CR, Kohan R, Doherty DA, Newnham JP, Pennell CE. Attitudes and barriers to the introduction of umbilical cord blood gas and lactate analysis at birth. The Australian & New Zealand Journal of Obstetrics & Gynaecology. 53: 271-6. PMID 23452231 DOI: 10.1111/ajo.12058  0.36
2013 Kamara M, Henderson JJ, Doherty DA, Dickinson JE, Pennell CE. The risk of placenta accreta following primary elective caesarean delivery: a case-control study. Bjog : An International Journal of Obstetrics and Gynaecology. 120: 879-86. PMID 23448347 DOI: 10.1111/1471-0528.12148  0.36
2013 Stewart CJ, Doherty D, Guppy R, Louwen K, Leung YC. β-Catenin and E-cadherin expression in stage I adult-type granulosa cell tumour of the ovary: correlation with tumour morphology and clinical outcome. Histopathology. 62: 257-66. PMID 22958082 DOI: 10.1111/j.1365-2559.2012.04334.x  0.36
2012 O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, ... ... Doherty D, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (New York, N.Y.). 338: 1619-22. PMID 23160955 DOI: 10.1126/science.1227764  1
2012 Diaz-Horta O, Sirmaci A, Doherty D, Nance W, Arnos K, Pandya A, Tekin M. GPSM2 mutations in Chudley-McCullough syndrome. American Journal of Medical Genetics. Part A. 158: 2972-3. PMID 22987632 DOI: 10.1002/ajmg.a.35636  1
2012 Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB. Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. American Journal of Medical Genetics. Part A. 158: 2393-406. PMID 22965664 DOI: 10.1002/ajmg.a.35561  1
2012 Tonduti D, Pichiecchio A, La Piana R, Livingston JH, Doherty DA, Majumdar A, Tomkins S, Mine M, Ceroni M, Ricca I, Balottin U, Orcesi S. COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers. Neuropediatrics. 43: 283-8. PMID 22932948 DOI: 10.1055/s-0032-1325116  1
2012 Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, ... ... Doherty DG, et al. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell. 150: 533-48. PMID 22863007 DOI: 10.1016/j.cell.2012.06.028  1
2012 Doherty D, Bamshad MJ. Exome sequencing to find rare variants causing neurologic diseases. Neurology. 79: 396-7. PMID 22744653 DOI: 10.1212/WNL.0b013e3182617170  1
2012 Doherty D, Chudley AE, Coghlan G, Ishak GE, Innes AM, Lemire EG, Rogers RC, Mhanni AA, Phelps IG, Jones SJ, Zhan SH, Fejes AP, Shahin H, Kanaan M, Akay H, et al. GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. American Journal of Human Genetics. 90: 1088-93. PMID 22578326 DOI: 10.1016/j.ajhg.2012.04.008  1
2012 Khan MA, Rafiq MA, Noor A, Hussain S, Flores JV, Rupp V, Vincent AK, Malli R, Ali G, Khan FS, Ishak GE, Doherty D, Weksberg R, Ayub M, Windpassinger C, et al. Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. American Journal of Human Genetics. 90: 856-63. PMID 22541562 DOI: 10.1016/j.ajhg.2012.03.023  1
2012 White CR, Doherty DA, Kohan R, Newnham JP, Pennell CE. Evaluation of selection criteria for validating paired umbilical cord blood gas samples: an observational study. Bjog : An International Journal of Obstetrics and Gynaecology. 119: 857-65. PMID 22530937 DOI: 10.1111/j.1471-0528.2012.03308.x  0.36
2012 Tregonning AM, Doherty DA, Hornbuckle J, Dickinson JE. The audience response system and knowledge gain: a prospective study. Medical Teacher. 34: e269-74. PMID 22455719 DOI: 10.3109/0142159X.2012.660218  0.36
2012 Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D. Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain : a Journal of Neurology. 135: 1370-86. PMID 22451504 DOI: 10.1093/brain/aws065  1
2012 Hart R, Doherty DA, Pennell CE, Newnham IA, Newnham JP. Periodontal disease: a potential modifiable risk factor limiting conception. Human Reproduction (Oxford, England). 27: 1332-42. PMID 22362927 DOI: 10.1093/humrep/des034  0.36
2012 Juric-Sekhar G, Adkins J, Doherty D, Hevner RF. Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia. Acta Neuropathologica. 123: 695-709. PMID 22331178 DOI: 10.1007/s00401-012-0951-2  1
2012 Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, ... ... Doherty DA, et al. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics. 44: 193-9. PMID 22246503 DOI: 10.1038/ng.1078  1
2012 Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, ... ... Doherty D, et al. Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. Journal of Medical Genetics. 49: 126-37. PMID 22241855 DOI: 10.1136/jmedgenet-2011-100552  1
2012 White CR, Doherty DA, Henderson JJ, Kohan R, Newnham JP, Pennell CE. Accurate prediction of hypoxic-ischaemic encephalopathy at delivery: a cohort study. The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. 25: 1653-9. PMID 22233402 DOI: 10.3109/14767058.2011.653421  0.36
2012 Ilett KF, Hackett LP, Gower S, Doherty DA, Hamilton D, Bartu AE. Estimated dose exposure of the neonate to buprenorphine and its metabolite norbuprenorphine via breastmilk during maternal buprenorphine substitution treatment. Breastfeeding Medicine : the Official Journal of the Academy of Breastfeeding Medicine. 7: 269-74. PMID 22011128 DOI: 10.1089/bfm.2011.0096  0.36
2012 White CR, Mok T, Doherty DA, Henderson JJ, Newnham JP, Pennell CE. The effect of time, temperature and storage device on umbilical cord blood gas and lactate measurement: a randomized controlled trial. The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. 25: 587-94. PMID 21819308 DOI: 10.3109/14767058.2011.596959  0.36
2011 Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, ... ... Doherty D, et al. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. American Journal of Human Genetics. 89: 713-30. PMID 22152675 DOI: 10.1016/j.ajhg.2011.11.005  1
2011 Livingston J, Doherty D, Orcesi S, Tonduti D, Piechiecchio A, La Piana R, Tournier-Lasserve E, Majumdar A, Tomkins S, Rice G, Kneen R, van der Knaap M, Crow Y. COL4A1 mutations associated with a characteristic pattern of intracranial calcification. Neuropediatrics. 42: 227-33. PMID 22134833 DOI: 10.1055/s-0031-1295493  1
2011 Putnam K, Magann EF, Doherty DA, Poole AT, Magann MI, Warner WB, Chauhan SP. Randomized clinical trial evaluating the frequency of membrane sweeping with an unfavorable cervix at 39 weeks. International Journal of Women's Health. 3: 287-94. PMID 21892340 DOI: 10.2147/IJWH.S23436  0.36
2011 Bachmann-Gagescu R, Phelps IG, Stearns G, Link BA, Brockerhoff SE, Moens CB, Doherty D. The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking. Human Molecular Genetics. 20: 4041-55. PMID 21816947 DOI: 10.1093/hmg/ddr332  1
2011 Newnham JP, Sahota DS, Zhang CY, Xu B, Zheng M, Doherty DA, Li S, Chung T, Hu Y. Preterm birth rates in Chinese women in China, Hong Kong and Australia - the price of Westernisation. The Australian & New Zealand Journal of Obstetrics & Gynaecology. 51: 426-31. PMID 21806588 DOI: 10.1111/j.1479-828X.2011.01327.x  0.36
2011 Doherty D, Millen KJ. Wormless without wingless. Nature Medicine. 17: 663-5. PMID 21647144 DOI: 10.1038/nm0611-663  1
2011 Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, ... ... Doherty DA, et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 145: 513-28. PMID 21565611 DOI: 10.1016/j.cell.2011.04.019  1
2011 Braun T, Li S, Moss TJ, Connor KL, Doherty DA, Nitsos I, Newnham JP, Challis JR, Sloboda DM. Differential appearance of placentomes and expression of prostaglandin H synthase type 2 in placentome subtypes after betamethasone treatment of sheep late in gestation. Placenta. 32: 295-303. PMID 21303722 DOI: 10.1016/j.placenta.2011.01.012  0.36
2010 White CR, Doherty DA, Henderson JJ, Kohan R, Newnham JP, Pennell CE. Benefits of introducing universal umbilical cord blood gas and lactate analysis into an obstetric unit. The Australian & New Zealand Journal of Obstetrics & Gynaecology. 50: 318-28. PMID 20716258 DOI: 10.1111/j.1479-828X.2010.01192.x  0.36
2010 Hickey M, Emery LI, Gregson J, Doherty DA, Saunders CM. The multidisciplinary management of menopausal symptoms after breast cancer: a unique model of care. Menopause (New York, N.Y.). 17: 727-33. PMID 20512079 DOI: 10.1097/gme.0b013e3181d672f6  0.36
2010 Lehman AM, Eydoux P, Doherty D, Glass IA, Chitayat D, Chung BY, Langlois S, Yong SL, Lowry RB, Hildebrandt F, Trnka P. Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. American Journal of Medical Genetics. Part A. 152: 1411-9. PMID 20503315 DOI: 10.1002/ajmg.a.33416  1
2010 Hart R, Sloboda DM, Doherty DA, Norman RJ, Atkinson HC, Newnham JP, Dickinson JE, Hickey M. Circulating maternal testosterone concentrations at 18 weeks of gestation predict circulating levels of antimüllerian hormone in adolescence: a prospective cohort study. Fertility and Sterility. 94: 1544-7. PMID 20153853 DOI: 10.1016/j.fertnstert.2009.12.060  0.36
2010 Hart R, Doherty DA, Norman RJ, Franks S, Dickinson JE, Hickey M, Sloboda DM. Serum antimullerian hormone (AMH) levels are elevated in adolescent girls with polycystic ovaries and the polycystic ovarian syndrome (PCOS). Fertility and Sterility. 94: 1118-21. PMID 20060112 DOI: 10.1016/j.fertnstert.2009.11.002  0.36
2010 Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, et al. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). Journal of Medical Genetics. 47: 8-21. PMID 19574260 DOI: 10.1136/jmg.2009.067249  1
2009 Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, et al. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. American Journal of Human Genetics. 85: 909-15. PMID 20004765 DOI: 10.1016/j.ajhg.2009.11.009  1
2009 Newnham JP, Newnham IA, Ball CM, Wright M, Pennell CE, Swain J, Doherty DA. Treatment of periodontal disease during pregnancy: a randomized controlled trial. Obstetrics and Gynecology. 114: 1239-48. PMID 19935025 DOI: 10.1097/AOG.0b013e3181c15b40  0.36
2009 Hart R, Sloboda DM, Doherty DA, Norman RJ, Atkinson HC, Newnham JP, Dickinson JE, Hickey M. Prenatal determinants of uterine volume and ovarian reserve in adolescence. The Journal of Clinical Endocrinology and Metabolism. 94: 4931-7. PMID 19846735 DOI: 10.1210/jc.2009-1342  0.36
2009 Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, et al. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. American Journal of Human Genetics. 85: 465-81. PMID 19800048 DOI: 10.1016/j.ajhg.2009.09.002  1
2009 Doherty D. Joubert syndrome: insights into brain development, cilium biology, and complex disease. Seminars in Pediatric Neurology. 16: 143-54. PMID 19778711 DOI: 10.1016/j.spen.2009.06.002  1
2009 Stewart CJ, Brennan BA, Crook ML, Doherty DA, Hammond IG, Leuverink E, Ruba S. Comparison of proliferation indices in primary adult-type granulosa cell tumors of the ovary and their corresponding metastases: an analysis of 14 cases. International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists. 28: 423-31. PMID 19696611 DOI: 10.1097/PGP.0b013e31819d8153  0.36
2009 Pennell CE, Henderson JJ, O'Neill MJ, McChlery S, McCleery S, Doherty DA, Dickinson JE. Induction of labour in nulliparous women with an unfavourable cervix: a randomised controlled trial comparing double and single balloon catheters and PGE2 gel. Bjog : An International Journal of Obstetrics and Gynaecology. 116: 1443-52. PMID 19656148 DOI: 10.1111/j.1471-0528.2009.02279.x  0.36
2009 Dickinson JE, Doherty DA. Optimization of third-stage management after second-trimester medical pregnancy termination. American Journal of Obstetrics and Gynecology. 201: 303.e1-7. PMID 19632665 DOI: 10.1016/j.ajog.2009.05.044  0.36
2009 Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA. MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. The Journal of Pediatrics. 155: 386-92.e1. PMID 19540516 DOI: 10.1016/j.jpeds.2009.03.045  1
2009 Rampono J, Simmer K, Ilett KF, Hackett LP, Doherty DA, Elliot R, Kok CH, Coenen A, Forman T. Placental transfer of SSRI and SNRI antidepressants and effects on the neonate. Pharmacopsychiatry. 42: 95-100. PMID 19452377 DOI: 10.1055/s-0028-1103296  0.36
2009 Weiss AH, Doherty D, Parisi M, Shaw D, Glass I, Phillips JO. Eye movement abnormalities in Joubert syndrome. Investigative Ophthalmology & Visual Science. 50: 4669-77. PMID 19443711 DOI: 10.1167/iovs.08-3299  1
2009 Lutgendorf MA, Busch JM, Doherty DA, Conza LA, Moone SO, Magann EF. Prevalence of domestic violence in a pregnant military population. Obstetrics and Gynecology. 113: 866-72. PMID 19305332 DOI: 10.1097/AOG.0b013e31819bdc93  0.36
2009 Dickinson JE, Doherty DA. Factors influencing the duration of pregnancy termination with vaginal misoprostol for fetal abnormality. Prenatal Diagnosis. 29: 520-4. PMID 19235816 DOI: 10.1002/pd.2236  0.36
2009 Jissendi-Tchofo P, Doherty D, McGillivray G, Hevner R, Shaw D, Ishak G, Leventer R, Barkovich AJ. Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigation. Ajnr. American Journal of Neuroradiology. 30: 113-9. PMID 18842761 DOI: 10.3174/ajnr.A1305  1
2008 Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Paterson AD, Lutufullah M, Doherty D, Vincent JB, Ayub M. Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. American Journal of Human Genetics. 83: 656. PMID 19068953 DOI: 10.1016/j.ajhg.2008.10.005  1
2008 Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, ... ... Doherty D, et al. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. American Journal of Human Genetics. 83: 559-71. PMID 18950740 DOI: 10.1016/j.ajhg.2008.10.002  1
2008 Doherty DA, Magann EF, Chauhan SP, O'Boyle AL, Busch JM, Morrison JC. Factors affecting caesarean operative time and the effect of operative time on pregnancy outcomes. The Australian & New Zealand Journal of Obstetrics & Gynaecology. 48: 286-91. PMID 18532960 DOI: 10.1111/j.1479-828X.2008.00862.x  0.36
2008 Leuverink EM, Brennan BA, Crook ML, Doherty DA, Hammond IG, Ruba S, Stewart CJ. Prognostic value of mitotic counts and Ki-67 immunoreactivity in adult-type granulosa cell tumour of the ovary. Journal of Clinical Pathology. 61: 914-9. PMID 18430757 DOI: 10.1136/jcp.2008.056093  0.36
2008 Kent JC, Mitoulas LR, Cregan MD, Geddes DT, Larsson M, Doherty DA, Hartmann PE. Importance of vacuum for breastmilk expression. Breastfeeding Medicine : the Official Journal of the Academy of Breastfeeding Medicine. 3: 11-9. PMID 18333764 DOI: 10.1089/bfm.2007.0028  0.36
2007 Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, et al. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nature Genetics. 39: 882-8. PMID 17558407 DOI: 10.1038/ng2069  1
2007 Parisi MA, Doherty D, Chance PF, Glass IA. Joubert syndrome (and related disorders) (OMIM 213300). European Journal of Human Genetics : Ejhg. 15: 511-21. PMID 17377524 DOI: 10.1038/sj.ejhg.5201648  1
2007 Paech MJ, Rucklidge MW, Lain J, Dodd PH, Bennett EJ, Doherty DA. Ondansetron and dexamethasone dose combinations for prophylaxis against postoperative nausea and vomiting. Anesthesia and Analgesia. 104: 808-14. PMID 17377086 DOI: 10.1213/01.ane.0000258768.76093.16  0.36
2007 Jacobs LA, Dickinson JE, Hart PD, Doherty DA, Faulkner SJ. Normal nipple position in term infants measured on breastfeeding ultrasound. Journal of Human Lactation : Official Journal of International Lactation Consultant Association. 23: 52-9. PMID 17293551 DOI: 10.1177/0890334406297184  0.36
2007 Sloboda DM, Hart R, Doherty DA, Pennell CE, Hickey M. Age at menarche: Influences of prenatal and postnatal growth. The Journal of Clinical Endocrinology and Metabolism. 92: 46-50. PMID 17062767 DOI: 10.1210/jc.2006-1378  0.36
2007 Sloboda DM, Moss TJ, Li S, Doherty D, Nitsos I, Challis JR, Newnham JP. Prenatal betamethasone exposure results in pituitary-adrenal hyporesponsiveness in adult sheep. American Journal of Physiology. Endocrinology and Metabolism. 292: E61-70. PMID 16882931 DOI: 10.1152/ajpendo.00270.2006  0.36
2006 Doherty D, Shurtleff DB. Pediatric perspective on prenatal counseling for myelomeningocele. Birth Defects Research. Part a, Clinical and Molecular Teratology. 76: 645-53. PMID 17001678 DOI: 10.1002/bdra.20297  1
2006 Mizuno K, Aizawa M, Saito S, Kani K, Tanaka S, Kawamura H, Hartmann PE, Doherty D. Analysis of feeding behavior with direct linear transformation. Early Human Development. 82: 199-204. PMID 16257144 DOI: 10.1016/j.earlhumdev.2005.08.002  0.36
2006 Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, et al. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. Journal of Medical Genetics. 43: 334-9. PMID 16155189 DOI: 10.1136/jmg.2005.036608  1
2005 Hickey M, Crewe J, Goodridge JP, Witt CS, Fraser IS, Doherty D, Christiansen FT, Salamonsen LA. Menopausal hormone therapy and irregular endometrial bleeding: a potential role for uterine natural killer cells? The Journal of Clinical Endocrinology and Metabolism. 90: 5528-35. PMID 16046584 DOI: 10.1210/jc.2005-0688  0.36
2005 Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, Chance PF, Barr M, Nyberg D. Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenatal Diagnosis. 25: 442-7. PMID 15966043 DOI: 10.1002/pd.1145  1
2005 Sloboda DM, Moss TJ, Li S, Doherty DA, Nitsos I, Challis JR, Newnham JP. Hepatic glucose regulation and metabolism in adult sheep: effects of prenatal betamethasone. American Journal of Physiology. Endocrinology and Metabolism. 289: E721-8. PMID 15928026 DOI: 10.1152/ajpendo.00040.2005  0.36
2004 Rao SC, Patole SK, Dickinson JE, Reid KP, Doherty DA. Neonatal necrotizing enterocolitis following intrauterine transfusions: is there an association? The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. 16: 51-4. PMID 15370083 DOI: 10.1080/14767050410001728953  0.36
2004 Chauhan SP, Doherty DD, Magann EF, Cahanding F, Moreno F, Klausen JH. Amniotic fluid index vs single deepest pocket technique during modified biophysical profile: a randomized clinical trial. American Journal of Obstetrics and Gynecology. 191: 661-7; discussion 66. PMID 15343260 DOI: 10.1016/j.ajog.2004.06.078  0.36
2002 Beaudet N, Brodkin CA, Stover B, Daroowalla F, Flack J, Doherty D. Crab allergen exposures aboard five crab-processing vessels. Aiha Journal : a Journal For the Science of Occupational and Environmental Health and Safety. 63: 605-9. PMID 12529915  1
Show low-probability matches.