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Catherine Keegan
Catherine Keegan
Verified email at umich.edu
Title
Cited by
Cited by
Year
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
WA Paznekas, SA Boyadjiev, RE Shapiro, O Daniels, B Wollnik, ...
The American Journal of Human Genetics 72 (2), 408-418, 2003
7222003
Telomere protection by mammalian Pot1 requires interaction with Tpp1
D Hockemeyer, W Palm, T Else, JP Daniels, KK Takai, JZS Ye, ...
Nature structural & molecular biology 14 (8), 754-761, 2007
2682007
Recent insights into organogenesis of the adrenal cortex
CE Keegan, GD Hammer
Trends in Endocrinology & Metabolism 13 (5), 200-208, 2002
2432002
Exome sequencing for the diagnosis of 46, XY disorders of sex development
RM Baxter, VA Arboleda, H Lee, H Barseghyan, MP Adam, PY Fechner, ...
The Journal of Clinical Endocrinology & Metabolism 100 (2), E333-E344, 2015
2252015
Microduplications of 22q11. 2 are frequently inherited and are associated with variable phenotypes
Z Ou, JS Berg, H Yonath, VB Enciso, DT Miller, J Picker, T Lenzi, ...
Genetics in Medicine 10 (4), 267-277, 2008
2112008
Telomere protection by TPP1 is mediated by POT1a and POT1b
T Kibe, GA Osawa, CE Keegan, T de Lange
Molecular and cellular biology 30 (4), 1059-1066, 2010
1622010
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
G Mirzaa, AE Timms, V Conti, EA Boyle, KM Girisha, B Martin, M Kircher, ...
JCI insight 1 (9), 2016
1602016
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1
H Kocak, BJ Ballew, K Bisht, R Eggebeen, BD Hicks, S Suman, A O’Neil, ...
Genes & development 28 (19), 2090-2102, 2014
1412014
Differential expression of corticotropin-releasing hormone in developing mouse embryos and adult brain
CE Keegan, JP Herman, IJ Karolyi, KS O'Shea, SA Camper, AF Seasholtz
Endocrinology 134 (6), 2547-2555, 1994
1381994
Steroidogenic factor-1 is essential for compensatory adrenal growth following unilateral adrenalectomy
F Beuschlein, C Mutch, DL Bavers, YM Ulrich-Lai, WC Engeland, ...
Endocrinology 143 (8), 3122-3135, 2002
1292002
TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations
JA O’Rawe, Y Wu, MJ Dörfel, AF Rope, PYB Au, JS Parboosingh, S Moon, ...
The American Journal of Human Genetics 97 (6), 922-932, 2015
1242015
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome
A Srivastava, KC Ritesh, YC Tsan, R Liao, F Su, X Cao, MC Hannibal, ...
Human molecular genetics 25 (3), 597-608, 2016
812016
Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review
K Keppler‐Noreuil, S Gorton, F Foo, J Yankowitz, C Keegan
American Journal of Medical Genetics Part A 143 (18), 2122-2128, 2007
802007
Implementing transgenic and embryonic stem cell technology to study gene expression, cell-cell interactions and gene function
SA Camper, TL Saunders, SK Kendall, RA Keri, AF Seasholtz, DF Gordon, ...
Biology of reproduction 52 (2), 246-257, 1995
761995
Urogenital and caudal dysgenesis in adrenocortical dysplasia ( acd ) mice is caused by a splicing mutation in a novel telomeric regulator
CE Keegan, JE Hutz, T Else, M Adamska, SP Shah, AE Kent, JM Howes, ...
Human molecular genetics 14 (1), 113-123, 2005
732005
The lived experience of MRKH: sharing health information with peers
ME Ernst, DE Sandberg, C Keegan, EH Quint, AC Lossie, BM Yashar
Journal of pediatric and adolescent gynecology 29 (2), 154-158, 2016
712016
Identification of critical regions for clinical features of distal 10q deletion syndrome
SA Yatsenko, MC Kruer, PI Bader, D Corzo, J Schuette, CE Keegan, ...
Clinical genetics 76 (1), 54-62, 2009
672009
Does patient-centered care change genital surgery decisions? The strategic use of clinical uncertainty in disorders of sex development clinics
S Timmermans, A Yang, M Gardner, CE Keegan, BM Yashar, PY Fechner, ...
Journal of Health and Social Behavior 59 (4), 520-535, 2018
662018
Genetics of disorders of sex development: the DSD-TRN experience
EC Délot, JC Papp, M Fox, W Grody, H Lee, E Vilain, C Keegan, ...
Endocrinology and Metabolism Clinics 46 (2), 519-537, 2017
622017
Altered gene-regulatory function of KDM5C by a novel mutation associated with autism and intellectual disability
CN Vallianatos, C Farrehi, MJ Friez, M Burmeister, CE Keegan, S Iwase
Frontiers in molecular neuroscience 11, 104, 2018
542018
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