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1

Online Mendelian Inheritance In Man (OMIM)

Ada Hamosh, Alan F. Scott, Joanna Amberger, David Valle, Victor A. McKusick

Journal:

Year:

2000

Language:

english

File:

PDF, 215 KB

english, 2000

2

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

Joanna Amberger, Carol Bocchini, Ada Hamosh

Journal:

Year:

2011

Language:

english

File:

PDF, 227 KB

english, 2011

3

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Dietz, Harry C., Cutting, Carry R., Pyeritz, Reed E., Maslen, Cheryl L., Sakai, Lynn Y, Corson, Glen M, Puffenberger, Erik G., Hamosh, Ada, Nanthakumar, Elizabeth J., Curristin, Sheila M.

Journal:

Year:

1991

File:

PDF, 453 KB

1991

4

Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

Bush, Lynn W, Beck, Anita E, Biesecker, Leslie G, Evans, James P, Hamosh, Ada, Holm, Ingrid A, Martin, Christa L, Richards, C Sue, Rehm, Heidi L

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 96 KB

english, 2018

5

Pachygyria in Weaver Syndrome

Freeman, Bethany M., Hoon, Alexander H., Breiter, Steven N., Hamosh, Ada

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 197 KB

english, 1999

6

Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene

Milan Macek Jr., Bernard Mercier, Alice Macková, Patrice Weiner Miller, Ada Hamosh, Claude Férec, Garry R. Cutting

Journal:

Year:

1997

Language:

english

File:

PDF, 220 KB

english, 1997

7

Association of anophthalmia and esophageal atresia

Daniel Sandler, Anthony Mancuso, Troy Becker, Roberto Zori, John Hellrung, Janet Silverstein, Valerie Burton, Ada Hamosh, Charles Williams

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 929 KB

english, 1995

8

3q29 interstitial microduplication: A new syndrome in a three-generation family

Emily C. Lisi, Ada Hamosh, Kimberly F. Doheny, Elizabeth Squibb, Barbara Jackson, Rebecca Galczynski, George H. Thomas, Denise A.S. Batista

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 265 KB

english, 2008

9

Concerns regarding transience and heterozygosity in neonatal hyperglycenemia

Ada Hamosh, Johan Van Hove

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 72 KB

english, 2003

10

Progressive cavitating leukoencephalopathy: A novel childhood disease

SakkuBai Naidu, Genila Bibat, Doris Lin, Peter Burger, Peter Barker, Sergio Rosemberg, Nancy Braverman, Hugo Arroyo, Michael Dowling, Ada Hamosh, Virginia Kimonis, Carol Blank, Agata Fiumara, Sergio F

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 1.25 MB

english, 2005

11

Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome

Milan Macek Jr., Ada Hamosh, Sandra Kiesewetter, Iain McIntosh, Beryl J. Rosenstein, Garry R. Cutting

Journal:

Year:

1992

Language:

english

File:

PDF, 152 KB

english, 1992

12

Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization

Colyn Cargile Cain, Daniel Saul, Lisa Attanasio, Erin Oehler, Ada Hamosh, Karin Blakemore, Gail Stetten

Journal:

Prenatal Diagnosis

Year:

2007

Language:

english

File:

PDF, 362 KB

english, 2007

13

Genomic analysis of partial 21q monosomies with variable phenotypes

Roberson, Elisha D O, Wohler, Elizabeth Squibb, Hoover-Fong, Julie E, Lisi, Emily, Stevens, Eric L, Thomas, George H, Leonard, Jay, Hamosh, Ada, Pevsner, Jonathan

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 238 KB

english, 2010

14

Nonsense mutations and diminished mRNA levels

McIntosh, Iain, Hamosh, Ada, Dietz, Harry C.

Journal:

Nature Genetics

Year:

1993

File:

PDF, 96 KB

1993

15

Nonstop treatment of cystic fibrosis

Dietz, Harry C., Hamosh, Ada

Journal:

Nature Medicine

Year:

1996

File:

PDF, 128 KB

1996

16

The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions

Michael J. Bamshad, Jay A. Shendure, David Valle, Ada Hamosh, James R. Lupski, Richard A. Gibbs, Eric Boerwinkle, Richard P. Lifton, Mark Gerstein, Murat Gunel, Shrikant Mane, Deborah A. Nickerson, on

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 77 KB

english, 2012

17

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 constitutional abnormalities :

Kearney, Hutton M., South, Sarah T., Wolff, Daynna J., Lamb, Allen, Hamosh, Ada, Rao, Kathleen W.

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 133 KB

english, 2011

18

3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition

Feng Li, Emily C. Lisi, Elizabeth S. Wohler, Ada Hamosh, Denise A.S. Batista

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 199 KB

english, 2009

19

Citrin deficiency, a perplexing global disorder

David Dimmock, Bruno Maranda, Carlo Dionisi-Vici, Jing Wang, Soledad Kleppe, Giuseppe Fiermonte, Renkui Bai, Bryan Hainline, Ada Hamosh, William E. O’Brien, Fernando Scaglia, Lee-Jun Wong

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 301 KB

english, 2009

20

Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant

Ada Hamosh, John W. McDonald, David Valle, Clair A. Francomano, Ernst Niedermeyer, Michael V. Johnston

Journal:

The Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 413 KB

english, 1992

21

Reply

Ada Hamosh, David Valle, Michael V. Johnston

Journal:

The Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 88 KB

english, 1993

22

False-positive results of genetic testing in cystic fibrosis

W.Stuart Warren, Ada Hamosh, Michelle Egan, Beryl J. Rosenstein

Journal:

The Journal of Pediatrics

Year:

1997

Language:

english

File:

PDF, 685 KB

english, 1997

23

Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia

Ada Hamosh, Joseph F. Maher, Gary A. Bellus, Sonja A. Rasmussen, Michael V. Johnston

Journal:

The Journal of Pediatrics

Year:

1998

Language:

english

File:

PDF, 128 KB

english, 1998

24

Comparison of the clinical manifestations of cystic fibrosis in black and white patients

Ada Hamosh, Stacey C. FitzSimmons, Milan Macek Jr., Michael R. Knowles, Beryl J. Rosenstein, Garry R. Cutting

Journal:

The Journal of Pediatrics

Year:

1998

Language:

english

File:

PDF, 137 KB

english, 1998

25

Reply

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 121 KB

english, 1999

26

Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome

Reza Yaghmai, Arash Kimyai-Asadi, Karoline Rostamiani, Nina S Heiss, Annemarie Poustka, Wafaa Eyaid, Joann Bodurtha, Hossein C Nousari, Ada Hamosh, Aida Metzenberg

Journal:

The Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 69 KB

english, 2000

27

A Loss-of-Function Mutation in the Endothelin-Converting Enzyme 1 (ECE-1) Associated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

Robert M.W. Hofstra, Olivier Valdenaire, Ellen Arch, Jan Osinga, Hester Kroes, Bernd-Michael Löffler, Ada Hamosh, Carel Meijers, Charles H.C.M. Buys

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 189 KB

english, 1999

28

A diversified approach for PKU treatment: Routine screening yields high incidence of psychiatric distress in phenylketonuria clinics

Barbara K. Burton, Lauren Leviton, Hazel Vespa, Hilary Coon, Nicola Longo, Bridget D. Lundy, Maria Johnson, Andrew Angelino, Ada Hamosh, Deborah Bilder

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 359 KB

english, 2013

29

Relative Contribution of Genetic and Nongenetic Modifiers to Intestinal Obstruction in Cystic Fibrosis

Scott M. Blackman, Rebecca Deering–Brose, Rita McWilliams, Kathleen Naughton, Barbara Coleman, Teresa Lai, Marilyn Algire, Suzanne Beck, Julie Hoover-Fong, Ada Hamosh, M. Daniele Fallin, Kristen West,

Journal:

Gastroenterology

Year:

2006

Language:

english

File:

PDF, 254 KB

english, 2006

30

Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

Ferreira, Carlos, Poretti, Andrea, Cohen, Julie, Hamosh, Ada, Naidu, Sakkubai

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 246 KB

english, 2014

31

Maternal Hyperphenylalaninemia: Rapid achievement of metabolic control predicts overall control throughout pregnancy

Martino, Teresa, Koerner, Celide, Yenokyan, Gayane, Hoover-Fong, Julie, Hamosh, Ada

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 647 KB

english, 2013

32

The Marfan syndrome locus: Confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3

Dietz, Harry C., Pyeritz, Reed E., Hall, Bryan D., Cadle, Ronald G., Hamosh, Ada, Schwartz, John, Meyers, Deborah A., Francomano, Clair A.

Journal:

Year:

1991

Language:

english

File:

PDF, 824 KB

english, 1991

33

Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles

Diehl, Adam C., Reader, Lauren, Hamosh, Ada, Bodurtha, Joann N.

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 369 KB

english, 2015

34

Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project

Oetting, William S., Robinson, Peter N., Greenblatt, Marc S., Cotton, Richard G., Beck, Tim, Carey, John C., Doelken, Sandra C., Girdea, Marta, Groza, Tudor, Hamilton, Carol M., Hamosh, Ada, Kerner, B

Journal:

Year:

2013

Language:

english

File:

PDF, 155 KB

english, 2013

35

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

Burnside, Rachel D., Pappas, John G., Sacharow, Stephanie, Applegate, Carolyn, Hamosh, Ada, Gadi, Inder K., Jaswaney, Vikram, Keitges, Elisabeth, Phillips, Karen K., Potluri, Venketaswara R., Risheg,

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 976 KB

english, 2013

36

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

Enns, Gregory M., Berry, Susan A., Berry, Gerard T., Rhead, William J., Brusilow, Saul W., Hamosh, Ada

Journal:

Boston Medical and Surgical Journal

Year:

2007

Language:

english

File:

PDF, 231 KB

english, 2007

37

PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

Hamosh, Ada, Sobreira, Nara, Hoover-Fong, Julie, Sutton, V. Reid, Boehm, Corinne, Schiettecatte, François, Valle, David

Journal:

Year:

2013

Language:

english

File:

PDF, 475 KB

english, 2013

38

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

Jurgens, Julie, Ling, Hua, Hetrick, Kurt, Pugh, Elizabeth, Schiettecatte, Francois, Doheny, Kimberly, Hamosh, Ada, Avramopoulos, Dimitri, Valle, David, Sobreira, Nara

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 651 KB

english, 2015

39

New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

Sobreira, Nara, Schiettecatte, François, Boehm, Corinne, Valle, David, Hamosh, Ada

Journal:

Year:

2015

Language:

english

File:

PDF, 1.15 MB

english, 2015

40

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells

Hamosh, Ada, Rosenstein, Beryl J., Cutting, Garry R.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 2.64 MB

english, 1992

41

Amplitude-Integrated Electroencephalography in Newborns with Inborn Errors of Metabolism

Olischar, Monika, Shany, Eilon, Aygün, Canan, Azzopardi, Denis, Hunt, Rod W., Toet, Mona C., Hamosh, Ada, de Vries, Linda S., Hellström-Westas, Lena, Theda, Christiane

Journal:

Year:

2012

Language:

english

File:

PDF, 276 KB

english, 2012

42

Gastric Function in Children with Cystic Fibrosis: Effect of Diet on Gastric Lipase Levels and Fat Digestion

Armand, Martine, Hamosh, Margit, Philpott, Jessica R, Resnik, Amy Kovar, Rosenstein, Beryl J, Hamosh, Ada, Perman, Jay A, Hamosh, Paul

Journal:

Pediatric Research

Year:

2004

Language:

english

File:

PDF, 322 KB

english, 2004

43

Heritability of Lung Disease Severity in Cystic Fibrosis

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, Da

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

2007

Language:

english

File:

PDF, 823 KB

english, 2007

44

CFTR Protein Expression in Primary and Cultured Epithelia

Pamela L. Zeitlin, Isabelle Crawford, Luo Lu, Sybille Woel, Michael E. Cohen, Mark Donowitz, Marshall H. Montrose, Ada Hamosh, Garry R. Cutting, Dieter Gruenert, Richard Huganir, Peter Maloney and Wil

Journal:

Proceedings of the National Academy of Sciences

Year:

1992

Language:

english

File:

PDF, 1015 KB

english, 1992

45

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Sobreira, Nara, Schiettecatte, François, Valle, David, Hamosh, Ada

Journal:

Year:

2015

Language:

english

File:

PDF, 294 KB

english, 2015

46

The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Pipitone, Angela, Raval, Donna B., Duis, Jessica, Vernon, Hilary, Martin, Regina, Hamosh, Ada, Valle, David, Gunay-Aygun, Meral

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 64 KB

english, 2016

47

A novel presentation of DYT 16: Acute onset in infancy and association with MRI abnormalities

Lemmon, Monica E., Lavenstein, Bennett, Applegate, Carolyn D., Hamosh, Ada, Tekes, Aylin, Singer, Harvey S.

Journal:

Movement Disorders

Year:

2013

Language:

english

File:

PDF, 141 KB

english, 2013

48

KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction

Duis, Jessica, Dean, Shannon, Applegate, Carolyn, Harper, Amy, Xiao, Rui, He, Weimin, Dollar, James D., Sun, Lisa R., Biderman Waberski, Marta, Crawford, Thomas O., Hamosh, Ada, Stafstrom, Carl E.

Journal:

Annals of Neurology

Year:

2016

Language:

english

File:

PDF, 2.22 MB

english, 2016

49

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/ PIGN -related epilepsy

Fleming, Leah, Lemmon, Monica, Beck, Natalie, Johnson, Maria, Mu, Weiyi, Murdock, David, Bodurtha, Joann, Hoover-Fong, Julie, Cohn, Ronald, Bosemani, Thangamadhan, Barañano, Kristin, Hamosh, Ada

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 814 KB

english, 2016

50

Integrating the microbiome into precision medicine

Bradburne, Christopher, Hamosh, Ada

Journal:

Expert Review of Precision Medicine and Drug Development

Year:

2016

Language:

english

File:

PDF, 558 KB

english, 2016