Volume 12

Genetics in Medicine

Volume 12

1

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening

Hantash, Feras M, Goos, Dana G, Tsao, David, Quan, Franklin, Buller-Burckle, Arlene, Peng, Mei, Jarvis, Michael, Sun, Weimin, Strom, Charles M

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 2.06 MB

english, 2010

2

Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization

Scott, Stuart A, Cohen, Ninette, Brandt, Tracy, Toruner, Gokce, Desnick, Robert J, Edelmann, Lisa

Journal:

Genetics in Medicine

Year:

2009

Language:

english

File:

PDF, 999 KB

english, 2009

3

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders

Rosenfeld, Jill A, Ballif, Blake C, Torchia, Beth S, Sahoo, Trilochan, Ravnan, J Britt, Schultz, Roger, Lamb, Allen, Bejjani, Bassem A, Shaffer, Lisa G

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 262 KB

english, 2010

4

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

Manning, Melanie, Hudgins, Louanne

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 136 KB

english, 2010

5

Clinical and genetic aspects of Angelman syndrome

Williams, Charles A, Driscoll, Daniel J, Dagli, Aditi I

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 592 KB

english, 2010

6

The genetics of prion diseases

Mastrianni, James A

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 660 KB

english, 2010

7

Beta-thalassemia

Cao, Antonio, Galanello, Renzo

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 1.32 MB

english, 2010

8

Clinical and genetic aspects of neurofibromatosis 1

Jett, Kimberly, Friedman, Jan M

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 572 KB

english, 2010

9

Laboratory guideline for Turner syndrome

Wolff, Daynna J, Van Dyke, Daniel L, Powell, Cynthia M

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 138 KB

english, 2010

10

Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: Findings from the Fabry Registry

Watt, Torquil, Burlina, Alessandro P, Cazzorla, Chiara, Schönfeld, Dorothee, Banikazemi, Maryam, Hopkin, Robert J, Martins, Ana Maria, Sims, Katherine, Beitner-Johnson, Dana, O'brien, Fanny, Feldt-Ras

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 908 KB

english, 2010

11

A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation

Lucarelli, Marco, Narzi, Lorena, Pierandrei, Silvia, Bruno, Sabina Maria, Stamato, Antonella, D'Avanzo, Miriam, Strom, Roberto, Quattrucci, Serena

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 640 KB

english, 2010

12

Extending the reach of public health genomics: What should be the agenda for public health in an era of genome-based and “personalized” medicine?

Burke, Wylie, Burton, Hilary, Hall, Alison E., Karmali, Mohamed, Khoury, Muin J., Knoppers, Bartha, Meslin, Eric M., Stanley, Fiona, Wright, Caroline F., Zimmern, Ronald L.

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 284 KB

english, 2010

13

A validated disease severity scoring system for adults with type 1 Gaucher disease

Weinreb, Neal J, Cappellini, Maria D, Cox, Timothy M, Giannini, Edward H, Grabowski, Gregory A, Hwu, Wuh-Liang, Mankin, Henry, Martins, Ana Maria, Sawyer, Carolyn, Vom Dahl, Stephan, Yeh, Michael S, Z

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 2.26 MB

english, 2010

14

A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies

Poot, Martin, Hochstenbach, Ron

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 363 KB

english, 2010

15

Paraoxonase 1 polymorphisms and ischemic stroke risk: A systematic review and meta-analysis

Dahabreh, Issa J, Kitsios, Georgios D, Kent, David M, Trikalinos, Thomas A

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 768 KB

english, 2010

16

Connexin-26–associated deafness: Phenotypic variability and progression of hearing loss

Chan, Dylan K, Schrijver, Iris, Chang, Kay W

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 361 KB

english, 2010

17

Glycogen Storage Disease Type III diagnosis and management guidelines

Kishnani, Priya S, Austin, Stephanie L, Arn, Pamela, Bali, Deeksha S, Boney, Anne, Case, Laura E, Chung, Wendy K, Desai, Dev M, El-Gharbawy, Areeg, Haller, Ronald, Smit, G Peter A, Smith, Alastair D,

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 651 KB

english, 2010

18

The electrodiagnostic characteristics of Glycogen Storage Disease Type III

Hobson-Webb, Lisa D, Austin, Stephanie L, Bali, Deeksha S, Kishnani, Priya S

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 188 KB

english, 2010

19

Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III

Goldstein, Jennifer L, Austin, Stephanie L, Boyette, Keri, Kanaly, Angela, Veerapandiyan, Aravind, Rehder, Catherine, Kishnani, Priya S, Bali, Deeksha S

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 508 KB

english, 2010

20

Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature

Lidove, Olivier, West, Michael L, Pintos-Morell, Guillem, Reisin, Ricardo, Nicholls, Kathy, Figuera, Luis E, Parini, Rossella, Carvalho, Luiz R, Kampmann, Christoph, Pastores, Gregory M, Mehta, Atul

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 466 KB

english, 2010

21

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Bachmann-Gagescu, Ruxandra, Mefford, Heather C, Cowan, Charles, Glew, Gwen M, Hing, Anne V, Wallace, Stephanie, Bader, Patricia I, Hamati, Aline, Reitnauer, Pamela J, Smith, Rosemarie, Stockton, David

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 639 KB

english, 2010

22

The skeletal dysplasias

Krakow, Deborah, Rimoin, David L

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 883 KB

english, 2010

23

Homozygosity mapping: One more tool in the clinical geneticist's toolbox

Alkuraya, Fowzan S

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 286 KB

english, 2010

24

Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: A change of concept required

Reish, Orit, Shefer-Kaufmann, Niva, Shimshoni, Daphne Chapman, Renbaum, Paul, Orr-Urtreger, Avi, Steiner, Hillel, Rapoport, Micha, Levy-Lahad, Ephrat, Altarescu, Gheona

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 246 KB

english, 2010

25

Genetics and cardiac channelopathies

Campuzano, Oscar, Beltrán-Álvarez, Pedro, Iglesias, Anna, Scornik, Fabiana, Pérez, Guillermo, Brugada, Ramon

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 358 KB

english, 2010

26

Primary immunodeficiency diseases: Practice among primary care providers and awareness among the general public, United States, 2008

Waltenburg, Rachel, Kobrynski, Lisa, Reyes, Michele, Bowen, Scott, Khoury, Muin J.

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 673 KB

english, 2010

27

Evidence-based classification of recommendations on use of genomic tests in clinical practice: Dealing with insufficient evidence

Khoury, Muin J, Coates, Ralph J, Evans, James P

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 138 KB

english, 2010

28

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome

Gervasini, Cristina, Grati, Francesca Romana, Lalatta, Faustina, Tabano, Silvia, Gentilin, Barbara, Colapietro, Patrizia, De Toffol, Simona, Frontino, Giada, Motta, Francesca, Maitz, Silvia, Bernardin

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 861 KB

english, 2010

29

Autozygome decoded

Alkuraya, Fowzan S.

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 354 KB

english, 2010

30

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

Malfait, Fransiska, Wenstrup, Richard J, De Paepe, Anne

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 370 KB

english, 2010

31

Impact of gene patents and licensing practices on access to genetic testing for hearing loss

Chandrasekharan, Subhashini, Fiffer, Melissa

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 1.42 MB

english, 2010

32

Technical standards and guidelines for the diagnosis of biotinidase deficiency

Cowan, Tina M, Blitzer, Miriam G, Wolf, Barry

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 220 KB

english, 2010

33

Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2

Petrucelli, Nancie, Daly, Mary B, Feldman, Gerald L

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 451 KB

english, 2010

34

The Human Genome Project at 10 years: A teachable moment

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 48 KB

english, 2010

35

Review of studies on metabolic genes and cancer in populations of African descent

Ragin, Camille C, Langevin, Scott, Rubin, Scott, Taioli, Emanuela

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 402 KB

english, 2010

36

Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants

El-Hattab, Ayman W, Zhang, Feng, Maxim, Rolanda, Christensen, Katherine M, Ward, Jewell C, Hines-Dowell, Stacy, Scaglia, Fernando, Lupski, James R, Cheung, Sau Wai

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 1.51 MB

english, 2010

37

New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease

Sánchez-mejías, Avencia, Fernández, Raquel Maria, López-alonso, Manuel, Antiñolo, Guillermo, Borrego, Salud

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 165 KB

english, 2010

38

Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndrome

Susman, Marleen R, Amor, David J, Muggli, Evelyne, Jaques, Alice M, Halliday, Jane

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 765 KB

english, 2010

39

Perspectives and diagnostic considerations in spinal muscular atrophy

Prior, Thomas W

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 461 KB

english, 2010

40

Newborn dried bloodspot screening: Long-term follow-up activities and information system requirements

Singh, Rani H., Hinman, Alan R.

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 657 KB

english, 2010

41

Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals

Hershberger, Ray E, Morales, Ana, Siegfried, Jill D

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 378 KB

english, 2010

42

Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: Evidence for a hyperplastic vasculomyopathy

Milewicz, Dianna M, Kwartler, Callie S, Papke, Christina L, Regalado, Ellen S, Cao, Jiumei, Reid, Amy J

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 1.26 MB

english, 2010

43

Myriad Genetics: In the eye of the policy storm

Gold, E Richard, Carbone, Julia

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 909 KB

english, 2010

44

Genomic research and wide data sharing: Views of prospective participants

Trinidad, Susan Brown, Fullerton, Stephanie M, Bares, Julie M, Jarvik, Gail P, Larson, Eric B, Burke, Wylie

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 295 KB

english, 2010

45

The genetics and clinical manifestations of telomere biology disorders

Savage, Sharon A., Bertuch, Alison A.

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 1.52 MB

english, 2010

46

The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer

Mvundura, Mercy, Grosse, Scott D, Hampel, Heather, Palomaki, Glenn E

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 656 KB

english, 2010

47

Further development and evaluation of a breast/ovarian cancer genetics referral screening tool

Bellcross, Cecelia

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 52 KB

english, 2010

48

Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities

Goumy, Carole, Gouas, Laetitia, Pebrel-Richard, Céline, Véronèse, Lauren, Eymard-Pierre, Eleonore, Debost-Legrand, Anne, Haoud, Khadidja, Tchirkov, Andrei, Vago, Philippe

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 527 KB

english, 2010

49

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

Kimberling, William J, Hildebrand, Michael S, Shearer, A Eliot, Jensen, Maren L, Halder, Jennifer A, Trzupek, Karmen, Cohn, Edward S, Weleber, Richard G, Stone, Edwin M, Smith, Richard J H

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 228 KB

english, 2010

50

Weighing the evidence for newborn screening for early-infantile Krabbe disease

Kemper, Alex R, Knapp, Alixandra A, Green, Nancy S, Comeau, Anne Marie, Metterville, Danielle R, Perrin, James M

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 373 KB

english, 2010

51

Genetic screening in the Persian Jewish community: A pilot study

Kaback, Michael, Lopatequi, Jean, Portuges, Amin Riley, Quindipan, Cathy, Pariani, Mitchel, Salimpour-Davidov, Nilou, Rimoin, David L

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 195 KB

english, 2010

52

Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome

Godler, David E, Slater, Howard R, Amor, David, Loesch, Danuta Z

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 51 KB

english, 2010

53

Generation after generation: Exploring the psychological impact of providing genetic services through a cascading approach

Hadley, Donald W., Ashida, Sato, Jenkins, Jean F., Martin, Jean C., Calzone, Kathleen A., Kuhn, Natalia R., McBride, Colleen M., Kirsch, Ilan R., Koehly, Laura M.

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 459 KB

english, 2010

54

Hereditary disorders of connective tissue: A guide to the emerging differential diagnosis

Murphy-Ryan, Maureen, Psychogios, Apostolos, Lindor, Noralane M

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 1.60 MB

english, 2010

55

High prevalence of array comparative genomic hybridization abnormalities in adults with unexplained intellectual disability

Taylor, Matthew R G, Jirikowic, Jean, Wells, Cara, Springer, Michelle, McGavran, Loris, Lunt, Brenda, Swisshelm, Karen

Journal:

Genetics in Medicine

Year:

2010

File:

PDF, 484 KB

2010

56

“I know what you told me, but this is what I think:” Perceived risk of Alzheimer disease among individuals who accurately recall their genetics-based risk estimate

Linnenbringer, Erin, Roberts, J Scott, Hiraki, Susan, Cupples, L Adrienne, Green, Robert C

Journal:

Genetics in Medicine

Year:

2010

File:

PDF, 712 KB

2010

57

Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease

Colaianni, Alessandra, Chandrasekharan, Subhashini, Cook-Deegan, Robert

Journal:

Genetics in Medicine

Year:

2010

File:

PDF, 328 KB

2010

58

The rules remain the same for genomic medicine: The case against “reverse genetic exceptionalism”

Evans, James P, Burke, Wylie, Khoury, Muin

Journal:

Genetics in Medicine

Year:

2010

File:

PDF, 77 KB

2010

59

Spinal extradural arachnoid cysts in lymphedema-distichiasis syndrome

Sánchez-Carpintero, Rocío, Dominguez, Pablo, Núñez, María Teresa, Patiño-García, Ana

Journal:

Genetics in Medicine

Year:

2010

File:

PDF, 373 KB

2010

60

Therapeutic goals in the treatment of Fabry disease

Mehta, Atul, West, Michael L, Pintos-Morell, Guillem, Reisin, Ricardo, Nicholls, Kathy, Figuera, Luis E, Parini, Rossella, Carvalho, Luiz R, Kampmann, Christoph, Pastores, Gregory M, Lidove, Olivier

Journal:

Genetics in Medicine

Year:

2010

File:

PDF, 256 KB

2010

61

Comment on the impact of gene patents and licensing practices on access to genetic testing: Lessons from hereditary hemorrhagic telangiectasia

Messner, Donna A, Pyeritz, Reed E, Bernhardt, Barbara A

Journal:

Genetics in Medicine

Year:

2010

File:

PDF, 136 KB

2010

62

Response to ACMG Practice Guidelines and ACMG Standards and Guidelines, Genetics in Medicine, July 2010, volume 12, number 7, pages 446–463 and 464–470

Schaefer, G Bradley

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 136 KB

english, 2010

63

Consumer perceptions of direct-to-consumer personalized genomic risk assessments

Bloss, Cinnamon S, Ornowski, Laura, Silver, Elana, Cargill, Michele, Vanier, Vance, Schork, Nicholas J, Topol, Eric J

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 970 KB

english, 2010

64

Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects

El-Hattab, Ayman W, Li, Fang-Yuan, Shen, Joseph, Powell, Berkley R, Bawle, Erawati V, Adams, Darius J, Wahl, Erica, Kobori, Joyce A, Graham, Brett, Scaglia, Fernando, Wong, Lee-Jun

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 277 KB

english, 2010

65

Hereditary breast and ovarian cancer: Referral source for genetic assessment and communication regarding assessment with nongenetic clinicians in the community setting

Morgan, Debra, Sylvester, Heather, Lee Lucas, Frances, Miesfeldt, Susan

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 213 KB

english, 2010

66

But is the platter really silver?

McLean, Scott D

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 49 KB

english, 2010

67

Family history and perceptions about risk and prevention for chronic diseases in primary care: A report from the Family Healthware™ Impact Trial

Acheson, Louise S, Wang, Catharine, Zyzanski, Stephen J, Lynn, Audrey, Ruffin, Mack T, Gramling, Robert, Rubinstein, Wendy S, O'Neill, Suzanne M, Nease, Donald E

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 323 KB

english, 2010

68

Impact of gene patents and licensing practices on access to genetic testing for Alzheimer disease

Skeehan, Katie, Heaney, Christopher, Cook-Deegan, Robert

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 457 KB

english, 2010

69

Spinocerebellar ataxia: Patient and health professional perspectives on whether and how patents affect access to clinical genetic testing

Powell, Ashton, Chandrasekharan, Subhashini, Cook-Deegan, Robert

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 1.54 MB

english, 2010

70

A novel custom resequencing array for dilated cardiomyopathy

Zimmerman, Rebekah S, Cox, Stephanie, Lakdawala, Neal K, Cirino, Allison, Mancini-Dinardo, Debora, Clark, Eugene, Leon, Annette, Duffy, Elizabeth, White, Emily, Baxter, Samantha, Alaamery, Manal, Farw

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 436 KB

english, 2010

71

Putting patients before patents

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 73 KB

english, 2010

72

Echocardiographic manifestations of Glycogen Storage Disease III: Increase in wall thickness and left ventricular mass over time

Vertilus, Shawyntee M, Austin, Stephanie L, Foster, Kimberly S, Boyette, Keri E, Bali, Deeksha S, Li, Jennifer S, Kishnani, Priya S, Wechsler, Stephanie Burns

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 1.11 MB

english, 2010

73

Validation of My Family Health Portrait for six common heritable conditions

Facio, Flavia M, Feero, W Gregory, Linn, Amy, Oden, Neal, Manickam, Kandamurugu, Biesecker, Leslie G

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 545 KB

english, 2010

74

A systematic review of population screening for fragile X syndrome

Hill, Melissa K, Archibald, Alison D, Cohen, Jonathan, Metcalfe, Sylvia A

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 418 KB

english, 2010

75

Size of the direct-to-consumer genomic testing market

Wright, Caroline F, Gregory-Jones, Shelley

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 56 KB

english, 2010

76

Carrier testing for spinal muscular atrophy

Gitlin, Jonathan M, Fischbeck, Kenneth, Crawford, Thomas O, Cwik, Valerie, Fleischman, Alan, Gonye, Karla, Heine, Deborah, Hobby, Kenneth, Kaufmann, Petra, Keiles, Steven, MacKenzie, Alex, Musci, Thom

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 85 KB

english, 2010

77

A novel approach to increase awareness about hereditary colon cancer using a state cancer registry

Lowery, Jan T, Axell, Lisen, Vu, Kieu, Rycroft, Randi

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 492 KB

english, 2010

78

High prevalence of array comparative genomic hybridization abnormalities in adults with unexplained intellectual disability

Taylor, Matthew R G, Jirikowic, Jean, Wells, Cara, Springer, Michelle, McGavran, Loris, Lunt, Brenda, Swisshelm, Karen

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 484 KB

english, 2010

79

“I know what you told me, but this is what I think:” Perceived risk of Alzheimer disease among individuals who accurately recall their genetics-based risk estimate

Linnenbringer, Erin, Roberts, J Scott, Hiraki, Susan, Cupples, L Adrienne, Green, Robert C

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 712 KB

english, 2010

80

Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease

Colaianni, Alessandra, Chandrasekharan, Subhashini, Cook-Deegan, Robert

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 328 KB

english, 2010

81

The rules remain the same for genomic medicine: The case against “reverse genetic exceptionalism”

Evans, James P, Burke, Wylie, Khoury, Muin

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 77 KB

english, 2010

82

Spinal extradural arachnoid cysts in lymphedema-distichiasis syndrome

Sánchez-Carpintero, Rocío, Dominguez, Pablo, Núñez, María Teresa, Patiño-García, Ana

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 373 KB

english, 2010

83

Therapeutic goals in the treatment of Fabry disease

Mehta, Atul, West, Michael L, Pintos-Morell, Guillem, Reisin, Ricardo, Nicholls, Kathy, Figuera, Luis E, Parini, Rossella, Carvalho, Luiz R, Kampmann, Christoph, Pastores, Gregory M, Lidove, Olivier

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 256 KB

english, 2010

84

Comment on the impact of gene patents and licensing practices on access to genetic testing: Lessons from hereditary hemorrhagic telangiectasia

Messner, Donna A, Pyeritz, Reed E, Bernhardt, Barbara A

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 136 KB

english, 2010

85

The role of race and trust in tissue/blood donation for genetic research

Bussey-Jones, Jada, Garrett, Joanne, Henderson, Gail, Moloney, Mairead, Blumenthal, Connie, Corbie-Smith, Giselle

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 186 KB

english, 2010

86

CLIA-tested genetic variants on commercial SNP arrays: Potential for incidental findings in genome-wide association studies

Johnson, Andrew D, Bhimavarapu, Anupama, Benjamin, Emelia J, Fox, Caroline, Levy, Daniel, Jarvik, Gail P, O'Donnell, Christopher J

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 444 KB

english, 2010

87

Newborn screening—the unique role of unique evidence

Fleischman, Alan R, Howse, Jennifer L

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 74 KB

english, 2010

88

Impact of gene patents and licensing practices on access to genetic testing for inherited susceptibility to cancer: Comparing breast and ovarian cancers with colon cancers

Cook-Deegan, Robert, Derienzo, Christopher, Carbone, Julia, Chandrasekharan, Subhashini, Heaney, Christopher, Conover, Christopher

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 676 KB

english, 2010

89

Multigenic condition risk assessment in direct-to-consumer genomic services

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 459 KB

english, 2010

90

What keeps you up at night? Genetics professionals' distressing experiences in patient care

Bernhardt, Barbara A, Silver, Rachel, Rushton, Cynda Hylton, Micco, Ellyn, Geller, Gail

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 272 KB

english, 2010

91

Complete COL1A1 allele deletions in osteogenesis imperfecta

van Dijk, Fleur S, Huizer, Margriet, Kariminejad, Ariana, Marcelis, Carlo L, Plomp, Astrid S, Terhal, Paulien A, Meijers-Heijboer, Hanne, Weiss, Marjan M, van Rijn, Rick R, Cobben, Jan M, Pals, Gerard

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 660 KB

english, 2010

92

Impact of limited population diversity of genome-wide association studies

Haga, Susanne B

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 242 KB

english, 2010

93

Archibald Edward Garrod and alcaptonuria: “Inborn errors of metabolism” revisited

Piro, Anna, Tagarelli, Giuseppe, Lagonia, Paolo, Quattrone, Aldo, Tagarelli, Antonio

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 74 KB

english, 2010

94

Findings from a community education needs assessment to facilitate the integration of genomic medicine into primary care

Christianson, Carol A, Powell, Karen Potter, Hahn, Susan Estabrooks, Bartz, Deborah, Roxbury, Tiese, Blanton, Susan H, Vance, Jeffery M, Pericak-Vance, Margaret, Telfair, Joseph, Henrich, Vincent C

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 221 KB

english, 2010

95

An evidence development process for newborn screening

Perrin, James M, Knapp, Alixandra A, Browning, Marsha F, Comeau, Anne Marie, Green, Nancy S, Lipstein, Ellen A, Metterville, Danielle R, Prosser, Lisa, Queally, Denise, Kemper, Alex R

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 130 KB

english, 2010

96

Newborn screening programs: Should 22q11 deletion syndrome be added?

Bales, Abigail M, Zaleski, Christina A, McPherson, Elizabeth W

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 298 KB

english, 2010

97

Putting patients before patents

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 73 KB

english, 2010

98

Medical foods: Inborn errors of metabolism and the reimbursement dilemma

Weaver, Meredith A, Johnson, Alissa, Singh, Rani H, Wilcox, William R, Lloyd-Puryear, Michele A, Watson, Michael S

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 187 KB

english, 2010

99

Simplifying informed consent for biorepositories: Stakeholder perspectives

Beskow, Laura M, Friedman, Joëlle y, Hardy, N Chantelle, Lin, Li, Weinfurt, Kevin P

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 249 KB

english, 2010

100

Gene patents and licensing: Case studies prepared for the Secretary's Advisory Committee on Genetics, Health, and Society

Cook-Deegan, Robert, Heaney, Christopher

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 82 KB

english, 2010

101

Outcomes of interest in evidence-based evaluations of genetic tests

Botkin, Jeffrey R, Teutsch, Steven M, Kaye, Celia I, Hayes, Maxine, Haddow, James E, Bradley, Linda A, Szegda, Kathleen, Dotson, W David

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 248 KB

english, 2010

102

The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

de Filippi, Paola, Ravaglia, Sabrina, Bembi, Bruno, Costa, Alfredo, Moglia, Arrigo, Piccolo, Giovanni, Repetto, Alessandra, Dardis, Andrea, Greco, Giuseppe, Ciana, Giovanni, Canevari, Francesco, Danes

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 268 KB

english, 2010

103

Assessing the social impact of direct-to-consumer genetic testing: Understanding sociotechnical architectures

Parthasarathy, Shobita

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 136 KB

english, 2010

104

Older mothers are not at risk of having grandchildren with sporadic mtDNA deletions

Elson, Joanna L, Apabhai, Shehnaz, Gorman, Grainne, Whittaker, Roger G, Krishnan, Kim J

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 243 KB

english, 2010

105

Health-related quality of life in Marfan syndrome: A cross-sectional study of Short Form 36 in 84 adults with a verified diagnosis

Rand-Hendriksen, Svend, Johansen, Heidi, Semb, Svein Ove, Geiran, Odd, Stanghelle, Johan K, Finset, Arnstein

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 465 KB

english, 2010

106

Agalsidase treatment for Fabry disease: Uses and rivalries

Schiffmann, Raphael

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 81 KB

english, 2010

107

Disease risks derived from genetic variants need clinical context

Stack, Catharine B

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 86 KB

english, 2010

108

African Americans' responses to genetic explanations of lung cancer disparities and their willingness to participate in clinical genetics research

White, Della Brown, Koehly, Laura M, Omogbehin, Adedamola, McBride, Colleen M

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 352 KB

english, 2010

109

Population prevalence of familial cancer and common hereditary cancer syndromes. The 2005 California Health Interview Survey

Scheuner, Maren T, McNeel, Timothy S, Freedman, Andrew N

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 663 KB

english, 2010

110

Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis

Chandrasekharan, Subhashini, Heaney, Christopher, James, Tamara, Conover, Chris, Cook-Deegan, Robert

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 709 KB

english, 2010

111

Effects of genetic risk information on children's psychosocial wellbeing: A systematic review of the literature

Wade, Christopher H, Wilfond, Benjamin S, McBride, Colleen M

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 403 KB

english, 2010

112

A novel microdeletion/microduplication syndrome of 19p13.13

Dolan, Michelle, Mendelsohn, Nancy J, Pierpont, Mary Ella, Schimmenti, Lisa A, Berry, Susan A, Hirsch, Betsy

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 3.27 MB

english, 2010

113

Commentary on population screening for fragile X syndrome

Coffee, Bradford

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 75 KB

english, 2010

114

A formal risk-benefit framework for genomic tests: Facilitating the appropriate translation of genomics into clinical practice

Veenstra, David L, Roth, Joshua A, Garrison, Louis P, Ramsey, Scott D, Burke, Wylie

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 459 KB

english, 2010

115

Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity

Sapp, Julie C, Nishimura, Darryl, Johnston, Jennifer J, Stone, Edwin M, Héon, Elise, Sheffield, Val C, Biesecker, Leslie G

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 188 KB

english, 2010

116

Impact of gene patents and licensing practices on access to genetic testing for long QT syndrome

Angrist, Misha, Chandrasekharan, Subhashini, Heaney, Christopher, Cook-Deegan, Robert

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 11.41 MB

english, 2010

117

Confronting real time ethical, legal, and social issues in the Electronic Medical Records and Genomics (eMERGE) Consortium

Clayton, Ellen Wright, Smith, Maureen, Fullerton, Stephanie M, Burke, Wylie, McCarty, Catherine A, Koenig, Barbara A, McGuire, Amy L, Beskow, Laura M, Dressler, Lynn, Lemke, Amy A, Ramos, Erin M, Rodr

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 155 KB

english, 2010

118

Newborn screening conditions: What we know, what we do not know, and how we will know it

Levy, Harvey L.

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 83 KB

english, 2010

119

Exploring attitudes, beliefs, and communication preferences of Latino community members regarding BRCA1/2 mutation testing and preventive strategies

Kinney, Anita Yeomans, Gammon, Amanda, Coxworth, James, Simonsen, Sara E, Arce-Laretta, Maritza

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 323 KB

english, 2010

120

A blueprint for maternal and child health primary care physician education in medical genetics and genomic medicine: Recommendations of the United States Secretary for Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children

Kemper, Alex R, Trotter, Tracy L, Lloyd-Puryear, Michele A, Kyler, Penny, Feero, W Gregory, Howell, R Rodney

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 141 KB

english, 2010

121

Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children

Calonge, Ned, Green, Nancy S, Rinaldo, Piero, Lloyd-Puryear, Michele, Dougherty, Denise, Boyle, Coleen, Watson, Michael, Trotter, Tracy, Terry, Sharon F, Howell, R Rodney

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 234 KB

english, 2010

122

Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis

Chandrasekharan, Subhashini, Pitlick, Emily, Heaney, Christopher, Cook-Deegan, Robert

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 989 KB

english, 2010

123

Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers

Lachance, Christina R, Erby, Lori A H, Ford, Beth M, Allen, Vincent C, Kaphingst, Kimberly A

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 266 KB

english, 2010

124

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

Marini, Monica, Bocciardi, Renata, Gimelli, Stefania, Di Duca, Marco, Divizia, Maria T, Baban, Anwar, Gaspar, Harald, Mammi, Isabella, Garavelli, Livia, Cerone, Roberto, Emma, Francesco, Bedeschi, Mar

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 1.13 MB

english, 2010

125

Health insurance coverage of genetic services in Illinois

Latchaw, Megan, Ormond, Kelly, Smith, Maureen, Richardson, John, Wicklund, Catherine

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 246 KB

english, 2010

126

Response to Dr. Palombi

Gold, E Richard, Carbone, Julia

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 83 KB

english, 2010

127

Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records

Dumitrescu, Logan, Ritchie, Marylyn D, Brown-Gentry, Kristin, Pulley, Jill M, Basford, Melissa, Denny, Joshua C, Oksenberg, Jorge R, Roden, Dan M, Haines, Jonathan L, Crawford, Dana C

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 114 KB

english, 2010

128

Highlights of This Issue

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 214 KB

english, 2010

129

Highlights of This Issue

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 937 KB

english, 2010

130

Announcement

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 40 KB

english, 2010

131

New at GeneTests

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 118 KB

english, 2010

132

College News

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 4.17 MB

english, 2010

133

“Creation,” a Film by Jon Amiel

McInerney, Joseph D

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 219 KB

english, 2010

134

New at GeneTests

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 6.55 MB

english, 2010

135

College News

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 849 KB

english, 2010

136

In Memoriam: Remembrance of Barton Childs, 1916–2010

Valle, David, McInerney, Joseph D

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 134 KB

english, 2010

137

College News

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 769 KB

english, 2010

138

Comment on “Myriad Genetics: In the eye of the policy storm”

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 57 KB

english, 2010

139

College News

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 573 KB

english, 2010

140

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening: Erratum

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 41 KB

english, 2010

141

College News

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 1.30 MB

english, 2010

142

Glycogen storage disease type III diagnosis and management guidelines: Erratum

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 60 KB

english, 2010

143

College News

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 705 KB

english, 2010

144

College News

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 660 KB

english, 2010

145

Highlights of This Issue

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 173 KB

english, 2010

146

Reply to “Disease risks derived from genetic variants need clinical context”

Mihaescu, Raluca, Janssens, A Cecile J W

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 80 KB

english, 2010

147

Commentary on population screening for fragile X syndrome: Erratum

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 58 KB

english, 2010

148

Parental preferences for CDKN2A/p16 testing of minors

Taber, Jennifer M., Aspinwall, Lisa G., Kohlmann, Wendy, Dow, Reed, Leachman, Sancy A.

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 726 KB

english, 2010

149

Highlights of This Issue

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 207 KB

english, 2010

150

Reviewer Acknowledgment

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 63 KB

english, 2010

151

Mountain States Genetics Regional Collaborative Centerʼs Metabolic Newborn Screening Long-Term Follow-Up Study: A collaborative multi-site approach to newborn screening outcomes research

Wright, Erica L., Van Hove, Johan L. K., Thomas, Janet

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 797 KB

english, 2010

152

Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: Early experience in New England

Sahai, Inderneel, Eaton, Roger B., Hale, Jaime E., Mulcahy, Eleanor A., Comeau, Anne Marie

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 2.74 MB

english, 2010

153

Long-term follow-up of newborn screening patients

Berry, Susan A., Lloyd-Puryear, Michele A., Watson, Michael S.

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 79 KB

english, 2010

154

The context and approach for the California newborn screening short- and long-term follow-up data system: Preliminary findings

Feuchtbaum, Lisa, Dowray, Sunaina, Lorey, Fred

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 265 KB

english, 2010

155

Use of genomic profiling to assess risk for cardiovascular disease and identify individualized prevention strategies—A targeted evidence-based review

Palomaki, Glenn E., Melillo, Stephanie, Neveux, Louis, Douglas, Michael P., Dotson, W. David, Janssens, A. Cecile J. W., Balkite, Elizabeth A., Bradley, Linda A.

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 687 KB

english, 2010

156

Newborn screening residual dried blood spot use for newborn screening quality improvement

Benkendorf, Judith, Goodspeed, Taylor, Watson, Michael S.

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 138 KB

english, 2010

157

The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup

Berry, Susan A., Jurek, Anne M., Anderson, Carolyn, Bentler, Kristi

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 432 KB

english, 2010

158

Diagnostic guidelines for newborns who screen positive in newborn screening

Kronn, David, Mofidi, Shideh, Braverman, Nancy, Harris, Katharine

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 158 KB

english, 2010

159

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey

Mendelsohn, Nancy J., Harmatz, Paul, Bodamer, Olaf, Burton, Barbara K., Giugliani, Roberto, Jones, Simon A., Lampe, Christina, Malm, Gunilla, Steiner, Robert D., Parini, Rossella

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 445 KB

english, 2010

160

Time to prophylactic surgery in BRCA1/2 carriers depends on psychological and other characteristics

Julian-Reynier, Claire, Bouhnik, Anne-Déborah, Mouret-Fourme, Emanuelle, Gauthier-Villars, Marion, Berthet, Pascaline, Lasset, Christine, Fricker, Jean-Pierre, Caron, Olivier, Gesta, Paul, Luporsi, El

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 377 KB

english, 2010