Search the collection

44 results for Hamosh,+Ada

Sort by:

Sort by

Limit results to:

20 per page

44 results for Hamosh,+Ada

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
How many rare diseases are there?
Author / Creator:Haendel, Melissa ; Vasilevsky, Nicole ; Unni, Deepak ; Bologa, Cristian ; Harris, Nomi ; Rehm, Heidi ; Hamosh, Ada ; Baynam, Gareth ; Groza, Tudor ; McMurry, Julie ; Dawkins, Hugh ; Rath, Ana ; Thaxton, Courtney ; Bocci, Giovanni ; Joachimiak, Marcin P. ; Köhler, Sebastian ; Robinson, Peter N. ; Mungall, Chris ; Oprea, Tudor I.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Drug discovery, 2020-02, Vol.19 (2), p.77-78
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Insights into genetics, human biology and disease gleaned from family based genomic studies
Author / Creator:Posey, Jennifer E. ; O’Donnell-Luria, Anne H. ; Chong, Jessica X. ; Harel, Tamar ; Jhangiani, Shalini N. ; Coban Akdemir, Zeynep H. ; Buyske, Steven ; Pehlivan, Davut ; Carvalho, Claudia M. B. ; Baxter, Samantha ; Sobreira, Nara ; Liu, Pengfei ; Wu, Nan ; Rosenfeld, Jill A. ; Kumar, Sushant ; Avramopoulos, Dimitri ; White, Janson J. ; Doheny, Kimberly F. ; Witmer, P. Dane ; Boehm, Corinne ; Sutton, V. Reid ; Muzny, Donna M. ; Boerwinkle, Eric ; Günel, Murat ; Nickerson, Deborah A. ; Mane, Shrikant ; MacArthur, Daniel G. ; Gibbs, Richard A. ; Hamosh, Ada ; Lifton, Richard P. ; Matise, Tara C. ; Rehm, Heidi L. ; Gerstein, Mark ; Bamshad, Michael J. ; Valle, David ; Lupski, James R.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-04, Vol.21 (4), p.798-812
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Metabolic management of a successful pregnancy and postpartum complications in fructose‐1,6‐bisphosphatase deficiency
Author / Creator:Ferguson, Callie ; Madison, Anita ; Hamosh, Ada ; Koerner, Celide
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2024-11, Vol.65 (6), p.401-405
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
What’s in a name? Issues to consider when naming Mendelian disorders
Author / Creator:Rasmussen, Sonja A. ; Hamosh, Ada ; Amberger, Joanna ; Arnold, Cassandra ; Bocchini, Carol ; O‘Neill, Marla J.F. ; Stumpf, Anne
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2020-10, Vol.22 (10), p.1573-1575
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases
Author / Creator:Wang, Chiuhui Mary ; Whiting, Amy Heagle ; Rath, Ana ; Anido, Roberta ; Ardigò, Diego ; Baynam, Gareth ; Dawkins, Hugh ; Hamosh, Ada ; Le Cam, Yann ; Malherbe, Helen ; Molster, Caron M. ; Monaco, Lucia ; Padilla, Carmencita D. ; Pariser, Anne R. ; Robinson, Peter N. ; Rodwell, Charlotte ; Schaefer, Franz ; Weber, Stefanie ; Macchia, Flaminia
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.334-6, Article 334
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data
Author / Creator:Wohler, Elizabeth ; Martin, Renan ; Griffith, Sean ; Rodrigues, Eliete da S. ; Antonescu, Corina ; Posey, Jennifer E. ; Coban-Akdemir, Zeynep ; Jhangiani, Shalini N. ; Doheny, Kimberly F. ; Lupski, James R. ; Valle, David ; Hamosh, Ada ; Sobreira, Nara
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-08, Vol.16 (1), p.365-10, Article 365
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
Author / Creator:Fountain, Michael D. ; Aten, Emmelien ; Cho, Megan T. ; Juusola, Jane ; Walkiewicz, Magdalena A. ; Ray, Joseph W. ; Xia, Fan ; Yang, Yaping ; Graham, Brett H. ; Bacino, Carlos A. ; Potocki, Lorraine ; van Haeringen, Arie ; Ruivenkamp, Claudia A.L. ; Mancias, Pedro ; Northrup, Hope ; Kukolich, Mary K. ; Weiss, Marjan M. ; van Ravenswaaij-Arts, Conny M.A. ; Mathijssen, Inge B. ; Levesque, Sebastien ; Meeks, Naomi ; Rosenfeld, Jill A. ; Lemke, Danielle ; Hamosh, Ada ; Lewis, Suzanne K. ; Race, Simone ; Stewart, Laura L. ; Hay, Beverly ; Lewis, Andrea M. ; Guerreiro, Rita L. ; Bras, Jose T. ; Martins, Marcia P. ; Derksen-Lubsen, Gerarda ; Peeters, Els ; Stumpel, Connie ; Stegmann, Sander ; Bok, Levinus A. ; Santen, Gijs W.E. ; Schaaf, Christian P.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2017-01, Vol.19 (1), p.45-52
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics
Author / Creator:Jurgens, Julie ; Ling, Hua ; Hetrick, Kurt ; Pugh, Elizabeth ; Schiettecatte, Francois ; Doheny, Kimberly ; Hamosh, Ada ; Avramopoulos, Dimitri ; Valle, David ; Sobreira, Nara
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2015-10, Vol.17 (10), p.782-788
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Haploinsufficiency of Telomerase Reverse Transcriptase Leads to Anticipation in Autosomal Dominant Dyskeratosis Congenita
Author / Creator:Mary Armanios ; Chen, Jiunn-Liang ; Yen-Pei Christy Chang ; Brodsky, Robert A. ; Anita Hawkins ; Griffin, Constance A. ; James R. Eshleman ; Cohen, Alan R. ; Chakravarti, Aravinda ; Hamosh, Ada ; Greider, Carol W.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2005-11, Vol.102 (44), p.15960-15964
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Expression of concern for global biomedical research by the human genome organization (HUGO)
Author / Creator:Hamosh, Ada ; Arzuaga, Fabiana ; B. Avraham, Karen ; Bin Alwi, Zilfalil ; Bowcock, Anne ; Burn, Sir John ; Carninci, Piero ; Dandara, Collet ; Lopes-Cendes, Iscia ; Mutesa, Leon ; P. Majumder, Partha ; K.V. Reichardt, Juergen ; A. Veltman, Joris
Publisher:England: BioMed Central
Journal title:Human genomics, 2025-04, Vol.19 (1), p.46-2, Article 46
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report
Author / Creator:Kannan, Suraj ; Bodurtha, Joann N. ; Hamosh, Ada ; Jordan, Christopher
Publisher:Bognor Regis: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2022-08, Vol.10 (8), p.e1947-n/a
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing
Author / Creator:Ferreira, Pedro G. ; Oti, Martin ; Barann, Matthias ; Wieland, Thomas ; Ezquina, Suzana ; Friedländer, Marc R. ; Rivas, Manuel A. ; Esteve-Codina, Anna ; Rosenstiel, Philip ; Strom, Tim M ; Lappalainen, Tuuli ; Guigó, Roderic ; Sammeth, Michael
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-09, Vol.6 (1), p.32406-32406, Article 32406
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem
Author / Creator:Forsyth, RaeLynn ; Peretz, Ryan H. ; Dempsey, Angela ; Britton, Jacquelyn ; Kratz, Lisa ; Hamosh, Ada ; Vernon, Hilary ; Batshaw, Mark L. ; Valle, David
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2023-05, Vol.64 (3), p.233-237
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Association of Human Aging with a Functional Variant of Klotho
Author / Creator:Arking, Dan E. ; Krebsova, Alice ; Macek, Milan ; Macek, Milan ; Arking, Albert ; Mian, I. Saira ; Fried, Linda ; Hamosh, Ada ; Dey, Srabani ; McIntosh, Iain ; Dietz, Harry C.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2002-01, Vol.99 (2), p.856-861
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
The GA4GH Phenopacket schema defines a computable representation of clinical data
Author / Creator:Jacobsen, Julius O. B. ; Baudis, Michael ; Baynam, Gareth S. ; Beckmann, Jacques S. ; Beltran, Sergi ; Buske, Orion J. ; Callahan, Tiffany J. ; Chute, Christopher G. ; Courtot, Mélanie ; Danis, Daniel ; Elemento, Olivier ; Essenwanger, Andrea ; Freimuth, Robert R. ; Gargano, Michael A. ; Groza, Tudor ; Hamosh, Ada ; Harris, Nomi L. ; Kaliyaperumal, Rajaram ; Lloyd, Kevin C. Kent ; Khalifa, Aly ; Krawitz, Peter M. ; Köhler, Sebastian ; Laraway, Brian J. ; Lehväslaiho, Heikki ; Matalonga, Leslie ; McMurry, Julie A. ; Metke-Jimenez, Alejandro ; Mungall, Christopher J. ; Munoz-Torres, Monica C. ; Ogishima, Soichi ; Papakonstantinou, Anastasios ; Piscia, Davide ; Pontikos, Nikolas ; Queralt-Rosinach, Núria ; Roos, Marco ; Sass, Julian ; Schofield, Paul N. ; Seelow, Dominik ; Siapos, Anastasios ; Smedley, Damian ; Smith, Lindsay D. ; Steinhaus, Robin ; Sundaramurthi, Jagadish Chandrabose ; Swietlik, Emilia M. ; Thun, Sylvia ; Vasilevsky, Nicole A. ; Wagner, Alex H. ; Warner, Jeremy L. ; Weiland, Claus ; Haendel, Melissa A. ; Robinson, Peter N.
Publisher:New York: Nature Publishing Group US
Journal title:Nature biotechnology, 2022-06, Vol.40 (6), p.817-820
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education
Author / Creator:Lee-Barber, Jasmine ; Kulo, Violet ; Lehmann, Harold ; Hamosh, Ada ; Bodurtha, Joann
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-02, Vol.21 (2), p.493-497
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders
Author / Creator:Enns, Gregory M ; Berry, Susan A ; Berry, Gerard T ; Rhead, William J ; Brusilow, Saul W ; Hamosh, Ada
Publisher:Boston, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2007-05, Vol.356 (22), p.2282-2292
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
Author / Creator:Weiss, Karin ; Wigby, Kristen ; Fannemel, Madeleine ; Henderson, Lindsay B ; Beck, Natalie ; Ghali, Neeti ; Study, D D D ; Anderlid, Britt-Marie ; Lundin, Johanna ; Hamosh, Ada ; Jones, Marilyn C ; Ghedia, Sondhya ; Muenke, Maximilian ; Kruszka, Paul
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-08, Vol.25 (8), p.946-951
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Heritability of Lung Disease Severity in Cystic Fibrosis
Author / Creator:Vanscoy, Lori L ; Blackman, Scott M ; Collaco, Joseph M ; Bowers, Amanda ; Lai, Teresa ; Naughton, Kathleen ; Algire, Marilyn ; McWilliams, Rita ; Beck, Suzanne ; Hoover-Fong, Julie ; Hamosh, Ada ; Cutler, Dave ; Cutting, Garry R
Publisher:New York, NY: Am Thoracic Soc
Journal title:American journal of respiratory and critical care medicine, 2007-05, Vol.175 (10), p.1036-1043
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of...
Author / Creator:Kearney, Hutton M. ; South, Sarah T. ; Wolff, Daynna J. ; Lamb, Allen ; Hamosh, Ada ; Rao, Kathleen W.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2011-07, Vol.13 (7), p.676-679
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 44 results

Export record to excel

Export this record

Export record to excel

How many rare diseases are there?

Export this record

Export record to excel

Insights into genetics, human biology and disease gleaned from family based genomic studies

Export this record

Export record to excel

Metabolic management of a successful pregnancy and postpartum complications in fructose‐1,6‐bisphosphatase deficiency

Export this record

Export record to excel

What’s in a name? Issues to consider when naming Mendelian disorders

Export this record

Export record to excel

Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases

Export this record

Export record to excel

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

Export this record

Export record to excel

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Export this record

Export record to excel

Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics

Export this record

Export record to excel

Haploinsufficiency of Telomerase Reverse Transcriptase Leads to Anticipation in Autosomal Dominant Dyskeratosis Congenita

Export this record

Export record to excel

Expression of concern for global biomedical research by the human genome organization (HUGO)

Export this record

Export record to excel

Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report

Export this record

Export record to excel

Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing

Export this record

Export record to excel

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem

Export this record

Export record to excel

Association of Human Aging with a Functional Variant of Klotho

Export this record

Export record to excel

The GA4GH Phenopacket schema defines a computable representation of clinical data

Export this record

Export record to excel

Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education

Export this record

Export record to excel

Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders

Export this record

Export record to excel

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

Export this record

Export record to excel

Heritability of Lung Disease Severity in Cystic Fibrosis

Export this record

Export record to excel

American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of...

Refine your search