Ann Haskins Olney - Publications, H-index & Citations

Ann Haskins Olney

University of Nebraska Medical Center

26H指数

76论文数

2.6K被引数

收录论文 12

发表时间

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder 致病性XPO1变异导致显性神经发育障碍

Genetics in Medicine

IF6.2

2025-08-13

OAAI

Amber S.E. van Oirsouw; Pavla Nedbalova; Miroslava Hancarova; Jan Prchal; Darina Prchalova; Marketa Vlckova; Sarka Bendova; Kristin G. Monaghan; Lisa M. Dyer; Yanmin Chen; Deanna Alexis Carere; Emma A.M. te Bogt; Heather Fisher; Angela E. Scheuerle; Stephanie Riley; Mahim Jain; Weiyi Mu; Joann N. Bodurtha; Albertien M. van Eerde; Marijn F. Stokman; Nicola Longo; Meena Balasubramanian; Michael Spiller; Gregory Costain; Charlotte von der Lippe; Kristian Tveten; Marianne Jortveit; Øystein L. Holla; Bertrand Isidor; Benjamin Cogné; Kevin E. Glinton; Blake Vuocolo; Roberta Ann Sierra; Brad Angle; Kelly Bontempo; Klaas Koop; Rachel Rabin; John Pappas; David A. Staffenberg; Pascal Joset; Peter Miny; Isabel Filges; Abdulrazak Alali; Kara Vitalone; Jill A. Rosenfeld; Weimin Bi; Samuel Bradbrook; Renee Perrier; Subhadra Ramanathan; June-Anne Gold; María Palomares Bralo; María Ángeles Gómez-Cano; Ann Haskins Olney; Shelly Nielsen; Alban Ziegler; Dominique Bonneau; Clément Prouteau; Ange-Line Bruel; Charlotte Caille-Benigni; Laëtitia Lambert; Andrea C. Yu; Nathaniel H. Robin; Dana Goodloe; Jan Fischer; Joseph Porrmann; Yvonne D. Hennig; Rami Abou Jamra; Isabella Herman; Ivy R. Johnson; Lucas Hérissant; Guillaume Jouret; Koen L.I. van Gassen; Ellen van Binsbergen; Bert van der Zwaag; Alwin Kamermans; Renske Oegema; Zdenek Sedlacek; Michaela Fenckova; Richard H. van Jaarsveld

The distinctive P450 oxidoreductase (PORD) urinary steroid metabolome in the first week of life: Report of three cases with severe disorder 新生儿第一周内特有的P450氧化还原酶(PORD)尿类固醇代谢组：三例严重紊乱病例报告

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

IF2.5

2025-07-01

OAAI

Baranowski, E. S.; Idkowiak, J.; Waterson, J.; D'Harlingue, A.; Olney, A. H.; Ivison, H. E.; Hughes, B. A.; Mueller, J. W.; Arlt, W.; Shackleton, C. H. L.

Noonan syndrome associated with focal occipital alopecia in a patient with RAF1 variant: A case report and literature review

GENETICS IN MEDICINE

IF6.2

2022-03-01

OAAI

Null, Elizabeth; Olney, Ann Haskins; Powers, Andria

A specific mutation in TBL1XR1 causes Pierpont syndrome

JOURNAL OF MEDICAL GENETICS

IF3.7

2016-01-14

OAAI

Heinen, Charlotte A.; Jongejan, Aldo; Watson, Peter J.; Redeker, Bert; Boelen, Anita; Boudzovitch-Surovtseva, Olga; Forzano, Francesca; Hordijk, Roel; Kelley, Richard; Olney, Ann H.; Pierpont, Mary Ella; Schaefer, G. Bradley; Stewart, Fiona; van Trotsenburg, A. S. Paul; Fliers, Eric; Schwabe, John W. R.; Hennekam, Raoul C.

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

IF5.1

2013-03-01

OAAI

Reisch, Nicole; Idkowiak, Jan; Hughes, Beverly A.; Ivison, Hannah E.; Abdul-Rahman, Omar A.; Hendon, Laura G.; Olney, Ann Haskins; Nielsen, Shelly; Harrison, Rachel; Blair, Edward M.; Dhir, Vivek; Krone, Nils; Shackleton, Cedric H. L.; Arlt, Wiebke

Dental Abnormalities in Schimke Immuno-osseous Dysplasia

JOURNAL OF DENTAL RESEARCH

IF5.9

2012-06-14

OAAI

Morimoto, M.; Kerouredan, O.; Gendronneau, M.; Shuen, C.; Baradaran-Heravi, A.; Asakura, Y.; Basiratnia, M.; Bogdanovic, R.; Bonneau, D.; Buck, A.; Charrow, J.; Cochat, P.; DeHaai, K. A.; Fenkci, M. S.; Frange, P.; Fruend, S.; Fryssira, H.; Keller, K.; Kirmani, S.; Kobelka, C.; Kohler, K.; Lewis, D. B.; Massella, L.; McLeod, D. R.; Milford, D. V.; Nobili, F.; Olney, A. H.; Semerci, C. N.; Stajic, N.; Stein, A.; Taque, S.; Zonana, J.; Luecke, T.; Hendson, G.; Bonnaure-Mallet, M.; Boerkoel, C. F.

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

IF5.1

2012-02-01

OAAI

Krone, Nils; Reisch, Nicole; Idkowiak, Jan; Dhir, Vivek; Ivison, Hannah E.; Hughes, Beverly A.; Rose, Ian T.; O'Neil, Donna M.; Vijzelaar, Raymon; Smith, Matthew J.; MacDonald, Fiona; Cole, Trevor R.; Adolphs, Nicolai; Barton, John S.; Blair, Edward M.; Braddock, Stephen R.; Collins, Felicity; Cragun, Deborah L.; Dattani, Mehul T.; Day, Ruth; Dougan, Shelley; Feist, Miriam; Gottschalk, Michael E.; Gregory, John W.; Haim, Michaela; Harrison, Rachel; Olney, Ann Haskins; Hauffa, Berthold P.; Hindmarsh, Peter C.; Hopkin, Robert J.; Jira, Petr E.; Kempers, Marlies; Kerstens, Michiel N.; Khalifa, Mohamed M.; Koehler, Birgit; Maiter, Dominique; Nielsen, Shelly; O'Riordan, Stephen M.; Roth, Christian L.; Shane, Kate P.; Silink, Martin; Stikkelbroeck, Nike M. M. L.; Sweeney, Elizabeth; Szarras-Czapnik, Maria; Waterson, John R.; Williamson, Lori; Hartmann, Michaela F.; Taylor, Norman F.; Wudy, Stefan A.; Malunowicz, Ewa M.; Shackleton, Cedric H. L.; Arlt, Wiebke

Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

JOURNAL OF MEDICAL GENETICS

IF3.7

2009-12-02

OAAI

Solomon, Benjamin D.; Lacbawan, Felicitas; Mercier, Sandra; Clegg, Nancy J.; Delgado, Mauricio R.; Rosenbaum, Kenneth; Dubourg, Christele; David, Veronique; Olney, Ann Haskins; Wehner, Lars-Erik; Hehr, Ute; Bale, Sherri; Paulussen, Aimee; Smeets, Hubert J.; Hardisty, Emily; Tylki-Szymanska, Anna; Pronicka, Ewa; Clemens, Michelle; McPherson, Elizabeth; Hennekam, Raoul C. M.; Hahn, Jin; Stashinko, Elaine; Levey, Eric; Wieczorek, Dagmar; Roeder, Elizabeth; Schell-Apacik, Chayim Can; Booth, Carol W.; Thomas, Ronald L.; Kenwrick, Sue; Cummings, Derek A. T.; Bous, Sophia M.; Keaton, Amelia; Balog, Joan Z.; Hadley, Donald; Zhou, Nan; Long, Robert; Velez, Jorge I.; Pineda-Alvarez, Daniel E.; Odent, Sylvie; Roessler, Erich; Muenke, Maximilian

Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations

GENETICS IN MEDICINE

IF6.2

2008-04-01

OAAI

Pickering, Diane L.; Eudy, James D.; Olney, Ann Haskins; Dave, Bhavana J.; Golden, Denae; Stevens, Jadd; Sanger, Warren G.

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller- Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2003-04-01

201

OAAI

Cardoso, C; Leventer, RJ; Ward, HL; Toyo-oka, K; Chung, J; Gross, A; Martin, CL; Allanson, J; Pilz, DT; Olney, AH; Mutchinick, OM; Hirotsune, S; Wynshaw-Boris, A; Dobyns, WB; Ledbetter, DH

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

NATURE GENETICS

IF31.8

1997-03-01

426

PREAI

Kang, S; Graham, JM; Olney, AH; Biesecker, LG

Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome

JOURNAL OF MEDICAL GENETICS

IF3.7

1996-11-01

OAAI

Biesecker, LG; Kang, S; Schaffer, AA; Abbott, M; Kelley, RI; Allen, JC; Clericuzio, C; Grebe, T; Olney, A; Graham, JM

研究方向