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Correspondence | 14 July 2020 | Open
Analysis of m6A RNA methylation in Caenorhabditis elegans
- Erdem Sendinc
- , David Valle-Garcia
- , Alan Jiao
- & Yang Shi
Cell Discovery 6 , 1–5

Rights & permissionsfor article Analysis of m6A RNA methylation in <i>Caenorhabditis elegans</i> . Opens in a new window.
Amendments and Corrections | 29 August 2013
Correction: Corrigendum: MacroH2A histone variants act as a barrier upon reprogramming towards pluripotency
- Alexandre Gaspar-Maia
- , Zulekha A. Qadeer
- , Dan Hasson
- , Kajan Ratnakumar
- , N. Adrian Leu
- , Gary Leroy
- , Shichong Liu
- , Carl Costanzi
- , David Valle-Garcia
- , Christoph Schaniel
- , Ihor Lemischka
- , Benjamin Garcia
- , John R. Pehrson
- & Emily Bernstein
Nature Communications 4 , 1–1

Rights & permissionsfor article Correction: Corrigendum: MacroH2A histone variants act as a barrier upon reprogramming towards pluripotency . Opens in a new window.
1 April 1998
Targeted Disruption of the 70kDa Peroxisomal Membrane Protein (PMP70) Gene Produces Dicarboxylic Aciduria and Peroxisome Proliferation • 720
- Gerardo Jimenez-Sanchez
- , Marc Espeel
- , Frank Roels
- , Ann Lawler
- , Paul A Watkins
- , Ann Moser
- , George Thomas
- & David Valle
Pediatric Research 43 , 125–125

Rights & permissionsfor article Targeted Disruption of the 70kDa Peroxisomal Membrane Protein (PMP70) Gene Produces Dicarboxylic Aciduria and Peroxisome Proliferation • 720 . Opens in a new window.
1 April 1997
Cloning, Characterization and Expression in Yeast of human cDNAs Encoding Enzymes Involved in Proline and Ornithine Metabolism. • 605
- Chien-An Hu
- , Wei-Wen Lin
- , Michael Geraghty
- , Cassandra Obie
- & David Valle
Pediatric Research 41 , 103–103

Rights & permissionsfor article Cloning, Characterization and Expression in Yeast of human cDNAs Encoding Enzymes Involved in Proline and Ornithine Metabolism. • 605 . Opens in a new window.
1 April 1996
ANALYSIS OF GENES INVOLVED IN THE PEROXISOME BIOGENESIS DISORDERS • 841
- Nancy Braverman
- , Gabrielle Dodt
- , Tami Yahraus
- , Steven J Gould
- & David Valle
Pediatric Research 39 , 143–143

Rights & permissionsfor article ANALYSIS OF GENES INVOLVED IN THE PEROXISOME BIOGENESIS DISORDERS • 841 . Opens in a new window.
1 April 1997
Cloning and characterization of cDNAs encoding human proline oxidase, the enzyme deficient in type I hyperprolinemia. † 615
- Wei Wen Lin
- , Chien-An Hu
- & David Valle
Pediatric Research 41 , 105–105

Rights & permissionsfor article Cloning and characterization of cDNAs encoding human proline oxidase, the enzyme deficient in type I hyperprolinemia. † 615 . Opens in a new window.
1 April 1997
Peroxisomal ABC transporters and diseases of peroxisome function and biogenesis. 608
Pediatric Research 41 , 104–104

Rights & permissionsfor article Peroxisomal ABC transporters and diseases of peroxisome function and biogenesis. 608 . Opens in a new window.
1 April 1996
PRODUCTION AND CHARACTERIZATION OF A MOUSE MODEL OF GYRATE ATROPHY OF THE CHOROID AND RETINA. • 879
- Tao Wang
- , Ann H Milam
- , Ann Lawler
- , Gary Steel
- & David Valle
Pediatric Research 39 , 149–149

Rights & permissionsfor article PRODUCTION AND CHARACTERIZATION OF A MOUSE MODEL OF GYRATE ATROPHY OF THE CHOROID AND RETINA. <i>• 879</i> . Opens in a new window.
1 April 1999
Targeted Disruption of the 70kDa Peroxisomal Membrane Protein (PMP70) in Mouse Is Associated with an Increase in the Related P70R Protein, Deficiency of Hepatic Glycogen and a Dicarboxylic Aciduria
Pediatric Research 45 , 139–139

Rights & permissionsfor article Targeted Disruption of the 70kDa Peroxisomal Membrane Protein (PMP70) in Mouse Is Associated with an Increase in the Related P70R Protein, Deficiency of Hepatic Glycogen and a Dicarboxylic Aciduria . Opens in a new window.
1 April 1997
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata (RCDP). • 593
- Nancy Braverman
- , Gary Steel
- , Cassandra Obie
- , Ann Moser
- , Hugo Moser
- , Stephen J. Gould
- & David Valle
Pediatric Research 41 , 101–101

Rights & permissionsfor article Human <i>PEX7</i> encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata (RCDP). • 593 . Opens in a new window.
1 April 1996
TYPE II HYPERPROLINEMIA: CLONING AND EXPRESSION IN YEAST OF cDNAs ENCODING HUMAN Δ¹-PYRROLINE-5-CARBOXYLATE (P5C) DEHYDROGENASE AND DELINEATION OF MUTATIONS RESPONSIBLE FOR TYPE II HYPERPROLINEMIA (HP II).• 860
- Chien-An Hu
- , Michael Geraghty
- , Wei-Wen Lin
- & David Valle
Pediatric Research 39 , 146–146

Rights & permissionsfor article TYPE II HYPERPROLINEMIA: CLONING AND EXPRESSION IN YEAST OF cDNAs ENCODING HUMAN Δ<sup>1</sup>-PYRROLINE-5-CARBOXYLATE (P5C) DEHYDROGENASE AND DELINEATION OF MUTATIONS RESPONSIBLE FOR TYPE II HYPERPROLINEMIA (HP II).<i>• 860</i> . Opens in a new window.
8 January 2015
Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics
- Julie Jurgens
- , Hua Ling
- , Kurt Hetrick
- , Elizabeth Pugh
- , Francois Schiettecatte
- , Kimberly Doheny
- , Ada Hamosh
- , Dimitri Avramopoulos
- , David Valle
- & Nara Sobreira
Genetics in Medicine 17 , 782–788

Rights & permissionsfor article Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics . Opens in a new window.
Research | 1 November 2007
Stage II follow-up on a linkage scan for bipolar disorder in the Ashkenazim provides suggestive evidence for chromosome 12p and the GRIN2B gene
Genetics in Medicine 9 , 745–751

Rights & permissionsfor article Stage II follow-up on a linkage scan for bipolar disorder in the Ashkenazim provides suggestive evidence for chromosome 12p and the <i>GRIN2B</i> gene . Opens in a new window.
Research | 1 July 1999
Mutations in the gene encoding 3β- hydroxysteroid-Δ⁸,Δ⁷- isomerase cause X-linked dominant Conradi-Hünermann syndrome
- Nancy Braverman
- , Paul Lin
- , Fabian F. Moebius
- , Cassandra Obie
- , Ann Moser
- , Hartmut Glossmann
- , William R. Wilcox
- , David L. Rimoin
- , Moyra Smith
- , Lisa Kratz
- , Richard I. Kelley
- & David Valle
Nature Genetics 22 , 291–294

Rights & permissionsfor article Mutations in the gene encoding 3β- hydroxysteroid-Δ<sup>8</sup>,Δ<sup>7</sup>- isomerase cause X-linked dominant Conradi-Hünermann syndrome . Opens in a new window.
1 April 1981
1559 DEPAKENE (VPA) INDUCED HYPERAMMONEMIA (HA)
Pediatric Research 15 , 703–703

Rights & permissionsfor article 1559 DEPAKENE (VPA) INDUCED HYPERAMMONEMIA (HA) . Opens in a new window.
News and Views | 25 February 1993
Penetrating the peroxisome
- David Valle
- & Jutta Gärtner
Nature 361 , 682–683

Rights & permissionsfor article Penetrating the peroxisome . Opens in a new window.
Research | 15 February 2001
Human disease genes
Nature 409 , 853–855

Rights & permissionsfor article Human disease genes . Opens in a new window.
Special Features | 9 May 2007
Completing the map of human genetic variation
- Evan E. Eichler
- , Deborah A. Nickerson
- , David Altshuler
- , Anne M. Bowcock
- , Lisa D. Brooks
- , Nigel P. Carter
- , Deanna M. Church
- , Adam Felsenfeld
- , Mark Guyer
- , Charles Lee
- , James R. Lupski
- , James C. Mullikin
- , Jonathan K. Pritchard
- , Jonathan Sebat
- , Stephen T. Sherry
- , Douglas Smith
- , David Valle
- & Robert H. Waterston
Nature 447 , 161–165

Rights & permissionsfor article Completing the map of human genetic variation . Opens in a new window.
News and Views | 1 June 1999
You give me fever
- David Valle
Nature Genetics 22 , 121–122

Rights & permissionsfor article You give me fever . Opens in a new window.
1 April 1978
900 HYPOAMMONEMIA IN GYRATE ATROPHY OF CHOROID AND RETINA
Pediatric Research 12 , 513–513

Rights & permissionsfor article 900 HYPOAMMONEMIA IN GYRATE ATROPHY OF CHOROID AND RETINA . Opens in a new window.
Research | 1 December 1997
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders
Nature Genetics 17 , 445–448

Rights & permissionsfor article Mutations in <i>PEX1</i> are the most common cause of peroxisome biogenesis disorders . Opens in a new window.
Research | 1 April 1997
Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders
- Chia-Che Chang
- , Wen-Hui Lee
- , Hugo Moser
- , David Valle
- & Stephen J. Gould
Nature Genetics 15 , 385–388

Rights & permissionsfor article Isolation of the human <i>PEX12</i> gene, mutated in group 3 of the peroxisome biogenesis disorders . Opens in a new window.
1 September 1998
Gyrate Atrophy of the Choroid and Retina: Lymphocyte Ornithine-δ-Aminotransferase Activity in Different Mutations and Carriers
- Kaarlo Heinänen
- , Kirsti Näntö-Salonen
- , Lasse Leino
- , Kari Pulkki
- , Olli Heinonen
- , David Valle
- & Olli Simell
Pediatric Research 44 , 381–385

Rights & permissionsfor article Gyrate Atrophy of the Choroid and Retina: Lymphocyte Ornithine-δ-Aminotransferase Activity in Different Mutations and Carriers . Opens in a new window.
1 April 1974
THE ENZYMATIC DEFECT IN TYPE II HYPERPROLINEMIA: ABSENCE OF Δ-PYRROLINE-5-CARBOXYLIC ACID DEHYDROGENASE ACTIVITY
Pediatric Research 8 , 396–396

Rights & permissionsfor article THE ENZYMATIC DEFECT IN TYPE II HYPERPROLINEMIA: ABSENCE OF Δ-PYRROLINE-5-CARBOXYLIC ACID DEHYDROGENASE ACTIVITY . Opens in a new window.
1 April 1987
ALLOPURINOL (AP) INDUCED OROTIDINURIA (ODNU): A TEST OF HETEROZYGOSITY FOR ORNITHINE TRANS-CARBAHYLASE (OTC) DEFICIENCY
- Saul Brusilow
- & David Valle
Pediatric Research 21 , 289–289

Rights & permissionsfor article ALLOPURINOL (AP) INDUCED OROTIDINURIA (ODNU): A TEST OF HETEROZYGOSITY FOR ORNITHINE TRANS-CARBAHYLASE (OTC) DEFICIENCY . Opens in a new window.
Research | 1 January 1975
Increased sensitivity of lymphocyte Δ¹pyrroline-5-carboxylate reductase to inhibition by proline with transformation
Nature 253 , 214–216

Rights & permissionsfor article Increased sensitivity of lymphocyte Δ<sup>1</sup>pyrroline-5-carboxylate reductase to inhibition by proline with transformation . Opens in a new window.
News and Views | 1 July 1996
The yeast genome — a common currency
Nature Genetics 13 , 253–255

Rights & permissionsfor article The yeast genome — a common currency . Opens in a new window.
Research | 1 October 1995
Mice lacking ornithine–δ–amino–transferase have paradoxical neonatal hypoornithinaemia and retinal degeneration
- Tao Wang
- , Ann M. Lawler
- , Gary Steel
- , Ilkka Sipila
- , Ann H. Milam
- & David Valle
Nature Genetics 11 , 185–190

Rights & permissionsfor article Mice lacking ornithine–δ–amino–transferase have paradoxical neonatal hypoornithinaemia and retinal degeneration . Opens in a new window.
Comments and Opinion | 1 May 2010
In Memoriam: Remembrance of Barton Childs, 1916–2010
- David Valle
- & Joseph D McInerney
Genetics in Medicine 12 , 267–267

Rights & permissionsfor article In Memoriam: Remembrance of Barton Childs, 1916–2010 . Opens in a new window.
1 April 1987
ORNITHINE AMINOTRANSFERASE (OAT): EVIDENCE FOR A DISPERSED GENE FAMILY WITH MEMBER(S) LOCALIZED TO Xp11.1 – Xp21.1
- Grant Mitchell
- , David Valle
- , Maureen Suchanek
- , Gary Steel
- , Lawrence Brody
- , James Looney
- & Hunt Willard
Pediatric Research 21 , 292–292

Rights & permissionsfor article ORNITHINE AMINOTRANSFERASE (OAT): EVIDENCE FOR A DISPERSED GENE FAMILY WITH MEMBER(S) LOCALIZED TO Xp11.1 – Xp21.1 . Opens in a new window.
Research | 14 January 2019
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model
- Jiaqi Liu
- , Nan Wu
- , Nan Yang
- , Kazuki Takeda
- , Weisheng Chen
- , Weiyu Li
- , Renqian Du
- , Sen Liu
- , Yangzhong Zhou
- , Ling Zhang
- , Zhenlei Liu
- , Yuzhi Zuo
- , Sen Zhao
- , Robert Blank
- , Davut Pehlivan
- , Shuangshuang Dong
- , Jianguo Zhang
- , Jianxiong Shen
- , Nuo Si
- , Yipeng Wang
- , Gang Liu
- , Shugang Li
- , Yanxue Zhao
- , Hong Zhao
- , Yixin Chen
- , Yu Zhao
- , Xiaofei Song
- , Jianhua Hu
- , Mao Lin
- , Ye Tian
- , Bo Yuan
- , Keyi Yu
- , Yuchen Niu
- , Bin Yu
- , Xiaoxin Li
- , Jia Chen
- , Zihui Yan
- , Qiankun Zhu
- , Xiaolu Meng
- , Xiaoli Chen
- , Jianzhong Su
- , Xiuli Zhao
- , Xiaoyue Wang
- , Yue Ming
- , Xiao Li
- , Cathleen L. Raggio
- , Baozhong Zhang
- , Xisheng Weng
- , Shuyang Zhang
- , Xue Zhang
- , Kota Watanabe
- , Morio Matsumoto
- , Li Jin
- , Yiping Shen
- , Nara L. Sobreira
- , Jennifer E. Posey
- , Philip F. Giampietro
- , David Valle
- , Pengfei Liu
- , Zhihong Wu
- , Shiro Ikegawa
- , James R. Lupski
- , Feng Zhang
- & Guixing Qiu
Genetics in Medicine 21 , 1548–1558

Rights & permissionsfor article <i>TBX6</i>-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and <i>TBX6</i> gene dosage model . Opens in a new window.
Reviews | 18 January 2019
Insights into genetics, human biology and disease gleaned from family based genomic studies
- Jennifer E. Posey
- , Anne H. O’Donnell-Luria
- , Jessica X. Chong
- , Tamar Harel
- , Shalini N. Jhangiani
- , Zeynep H. Coban Akdemir
- , Steven Buyske
- , Davut Pehlivan
- , Claudia M. B. Carvalho
- , Samantha Baxter
- , Nara Sobreira
- , Pengfei Liu
- , Nan Wu
- , Jill A. Rosenfeld
- , Sushant Kumar
- , Dimitri Avramopoulos
- , Janson J. White
- , Kimberly F. Doheny
- , P. Dane Witmer
- , Corinne Boehm
- , V. Reid Sutton
- , Donna M. Muzny
- , Eric Boerwinkle
- , Murat Günel
- , Deborah A. Nickerson
- , Shrikant Mane
- , Daniel G. MacArthur
- , Richard A. Gibbs
- , Ada Hamosh
- , Richard P. Lifton
- , Tara C. Matise
- , Heidi L. Rehm
- , Mark Gerstein
- , Michael J. Bamshad
- , David Valle
- & James R. Lupski
Genetics in Medicine 21 , 798–812

Rights & permissionsfor article Insights into genetics, human biology and disease gleaned from family based genomic studies . Opens in a new window.
Research | 19 November 2018
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm
- Russell A. Gould
- , Hamza Aziz
- , Courtney E. Woods
- , Manuel Alejandro Seman-Senderos
- , Elizabeth Sparks
- , Christoph Preuss
- , Florian Wünnemann
- , Djahida Bedja
- , Cassandra R. Moats
- , Sarah A. McClymont
- , Rebecca Rose
- , Nara Sobreira
- , Hua Ling
- , Gretchen MacCarrick
- , Ajay Anand Kumar
- , Ilse Luyckx
- , Elyssa Cannaerts
- , Aline Verstraeten
- , Hanna M. Björk
- , Ann-Cathrin Lehsau
- , Vinod Jaskula-Ranga
- , Henrik Lauridsen
- , Asad A. Shah
- , Christopher L. Bennett
- , Patrick T. Ellinor
- , Honghuang Lin
- , Eric M. Isselbacher
- , Christian Lacks Lino Cardenas
- , Jonathan T. Butcher
- , G. Chad Hughes
- , Mark E. Lindsay
- , David Valle
- , Hua Ling
- , James Lupski
- , Harry C. Dietz
- , Andrew S. McCallion
- , Gregor Andelfinger
- , Bart L. Loeys
- , Lut Van Laer
- , Per Eriksson
- , Salah A. Mohamed
- , Luc Mertens
- , Anders Franco-Cereceda
- , Seema Mital
- , Luc Mertens
- , Anders Franco-Cereceda
- , Judith M. A. Verhagen
- , Marja Wessels
- , Salah A. Mohamed
- , Per Eriksson
- , Seema Mital
- , Lut Van Laer
- , Bart L. Loeys
- , Gregor Andelfinger
- , Andrew S. McCallion
- & Harry C. Dietz
Nature Genetics 51 , 42–50

Rights & permissionsfor article <i>ROBO4</i> variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm . Opens in a new window.
Research | 7 November 2017
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities
- Nara Sobreira
- , Martha Brucato
- , Li Zhang
- , Christine Ladd-Acosta
- , Chrissie Ongaco
- , Jane Romm
- , Kimberly F Doheny
- , Regina C Mingroni-Netto
- , Debora Bertola
- , Chong A Kim
- , Ana BA Perez
- , Maria I Melaragno
- , David Valle
- , Vera A Meloni
- & Hans T Bjornsson
European Journal of Human Genetics 25 , 1335–1344

Rights & permissionsfor article Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities . Opens in a new window.
Research | 4 March 2014
Mutations in Alström protein impair terminal differentiation of cardiomyocytes
- Lincoln T. Shenje
- , Peter Andersen
- , Marc K. Halushka
- , Cecillia Lui
- , Laviel Fernandez
- , Gayle B. Collin
- , Nuria Amat-Alarcon
- , Wendy Meschino
- , Ernest Cutz
- , Kenneth Chang
- , Raluca Yonescu
- , Denise A. S. Batista
- , Yan Chen
- , Stephen Chelko
- , Jane E. Crosson
- , Janet Scheel
- , Luca Vricella
- , Brian D. Craig
- , Beth A. Marosy
- , David W. Mohr
- , Kurt N. Hetrick
- , Jane M. Romm
- , Alan F. Scott
- , David Valle
- , Jürgen K. Naggert
- , Chulan Kwon
- , Kimberly F. Doheny
- & Daniel P. Judge
Nature Communications 5 , 1–11

Rights & permissionsfor article Mutations in Alström protein impair terminal differentiation of cardiomyocytes . Opens in a new window.
Research | 5 March 2013
MacroH2A histone variants act as a barrier upon reprogramming towards pluripotency
- Alexandre Gaspar-Maia
- , Zulekha A. Qadeer
- , Dan Hasson
- , Kajan Ratnakumar
- , N. Adrian Leu
- , Gary Leroy
- , Shichong Liu
- , Carl Costanzi
- , David Valle-Garcia
- , Christoph Schaniel
- , Ihor Lemischka
- , Benjamin Garcia
- , John R. Pehrson
- & Emily Bernstein
Nature Communications 4 , 1–13

Rights & permissionsfor article MacroH2A histone variants act as a barrier upon reprogramming towards pluripotency . Opens in a new window.
Reviews | 8 October 2009
Finding the missing heritability of complex diseases
- Teri A. Manolio
- , Francis S. Collins
- , Nancy J. Cox
- , David B. Goldstein
- , Lucia A. Hindorff
- , David J. Hunter
- , Mark I. McCarthy
- , Erin M. Ramos
- , Lon R. Cardon
- , Aravinda Chakravarti
- , Judy H. Cho
- , Alan E. Guttmacher
- , Augustine Kong
- , Leonid Kruglyak
- , Elaine Mardis
- , Charles N. Rotimi
- , Montgomery Slatkin
- , David Valle
- , Alice S. Whittemore
- , Michael Boehnke
- , Andrew G. Clark
- , Evan E. Eichler
- , Greg Gibson
- , Jonathan L. Haines
- , Trudy F. C. Mackay
- , Steven A. McCarroll
- & Peter M. Visscher
Nature 461 , 747–753

Rights & permissionsfor article Finding the missing heritability of complex diseases . Opens in a new window.
Research | 1 February 1995
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders
- Gabriele Dodt
- , Nancy Braverman
- , Candice Wong
- , Ann Moser
- , Hugo W. Moser
- , Paul Watkins
- , David Valle
- & Stephen J. Gould
Nature Genetics 9 , 115–125

Rights & permissionsfor article Mutations in the PTS1 receptor gene, <i>PXR1</i>, define complementation group 2 of the peroxisome biogenesis disorders . Opens in a new window.
Research | 1 April 1997
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata
- Nancy Braverman
- , Gary Steel
- , Cassandra Obie
- , Ann Moser
- , Hugo Moser
- , Stephen J. Gould
- & David Valle
Nature Genetics 15 , 369–376

Rights & permissionsfor article Human <i>PEX7</i> encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata . Opens in a new window.
Research | 1 April 1992
Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome
Nature Genetics 1 , 16–23

Rights & permissionsfor article Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome . Opens in a new window.
Research | 1 June 1999
Hyperornithinaemia- hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter
- Jose A. Camacho
- , Cassandra Obie
- , Barbara Biery
- , Barbara K. Goodman
- , Chien-An Hu
- , Shlomo Almashanu
- , Gary Steel
- , Robin Casey
- , Marie Lambert
- , Grant A. Mitchell
- & David Valle
Nature Genetics 22 , 151–158

Rights & permissionsfor article Hyperornithinaemia- hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter . Opens in a new window.
10 January 2013 | Open
Implementing genomic medicine in the clinic: the future is here
- Teri A. Manolio
- , Rex L. Chisholm
- , Brad Ozenberger
- , Dan M. Roden
- , Marc S. Williams
- , Richard Wilson
- , David Bick
- , Erwin P. Bottinger
- , Murray H. Brilliant
- , Charis Eng
- , Kelly A. Frazer
- , Bruce Korf
- , David H. Ledbetter
- , James R. Lupski
- , Clay Marsh
- , David Mrazek
- , Michael F. Murray
- , Peter H. O’Donnell
- , Daniel J. Rader
- , Mary V. Relling
- , Alan R. Shuldiner
- , David Valle
- , Richard Weinshilboum
- , Eric D. Green
- & Geoffrey S. Ginsburg
Genetics in Medicine 15 , 258–267

Rights & permissionsfor article Implementing genomic medicine in the clinic: the future is here . Opens in a new window.

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