Publications by authors named "Sandesh C S Nagamani"

45Publications

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.

Authors:
Roland Posset Stefan Kölker Florian Gleich Jürgen G Okun Andrea L Gropman Sandesh C S Nagamani Svenja Scharre Joris Probst Magdalena E Walter Georg F Hoffmann Sven F Garbade Matthias Zielonka

Mol Genet Metab 2020 Dec 7;131(4):390-397. Epub 2020 Nov 7.

Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany; Heidelberg Research Center for Molecular Medicine (HRCMM), Heidelberg, Germany. Electronic address:

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December 2020

Widespread disturbance in extracellular matrix collagen biomarker responses to teriparatide therapy in osteogenesis imperfecta.

Authors:
Lindsey Nicol Priya Srikanth Kim Henriksen Shu Sun Rosamund Smith Morten A Karsdal Sandesh C S Nagamani Jay Shapiro Brendan Lee Benjamin Z Leder Eric Orwoll

Bone 2021 Jan 21;142:115703. Epub 2020 Oct 21.

Department of Medicine, Bone and Mineral Unit, Oregon Health & Science University, Portland, OR, United States of America.

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January 2021

A Multicenter Study of Intramedullary Rodding in Osteogenesis Imperfecta.

Authors:
Mercedes Rodriguez Celin Karen M Kruger Angela Caudill Sandesh C S Nagamani Gerald F Harris Peter A Smith

JB JS Open Access 2020 Jul-Sep;5(3). Epub 2020 Sep 11.

Motion Analysis Laboratory, Shriners Hospitals for Children, Chicago, Illinois.

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September 2020

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.

Authors:
Roland Posset Sven F Garbade Florian Gleich Andrea L Gropman Pascale de Lonlay Georg F Hoffmann Angeles Garcia-Cazorla Sandesh C S Nagamani Matthias R Baumgartner Andreas Schulze Dries Dobbelaere Marc Yudkoff Stefan Kölker Matthias Zielonka

Sci Rep 2020 07 20;10(1):11948. Epub 2020 Jul 20.

Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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July 2020

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.

Authors:
Matthias Zielonka Sven F Garbade Florian Gleich Jürgen G Okun Sandesh C S Nagamani Andrea L Gropman Georg F Hoffmann Stefan Kölker Roland Posset

Hum Mutat 2020 05 30;41(5):946-960. Epub 2020 Jan 30.

Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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May 2020

Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.

Authors:
Keren Machol Trevor D Hadley Jake Schmidt David Cuthbertson Henri Traboulsi Rodrigo C Silva Chloe Citron Sobiah Khan Kate Citron Erin Carter Kenneth Brookler Jay R Shapiro Robert D Steiner Peter H Byers Francis H Glorieux Michaela Durigova Peter Smith Michael B Bober Vernon R Sutton Brendan H Lee Sandesh C S Nagamani Cathleen Raggio

Am J Med Genet A 2020 04 26;182(4):697-704. Epub 2019 Dec 26.

Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, New York.

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April 2020

Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta.

Authors:
Chaya N Murali David Cuthbertson Brady Slater Dianne Nguyen Alicia Turner Gerald Harris V Reid Sutton Brendan Lee Sandesh C S Nagamani

Genet Med 2020 03 27;22(3):581-589. Epub 2019 Nov 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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March 2020

ASL Metabolically Regulates Tyrosine Hydroxylase in the Nucleus Locus Coeruleus.

Authors:
Shaul Lerner Elmira Anderzhanova Sima Verbitsky Raya Eilam Yael Kuperman Michael Tsoory Yuri Kuznetsov Alexander Brandis Tevie Mehlman Ram Mazkereth Robert McCarter Menahem Segal Sandesh C S Nagamani Alon Chen Ayelet Erez

Cell Rep 2019 11;29(8):2144-2153.e7

Department of Biological Regulation, Weizmann Institute of Science, Rehovot, Israel. Electronic address:

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November 2019

Early prediction of phenotypic severity in Citrullinemia Type 1.

Authors:
Matthias Zielonka Stefan Kölker Florian Gleich Nicolas Stützenberger Sandesh C S Nagamani Andrea L Gropman Georg F Hoffmann Sven F Garbade Roland Posset

Ann Clin Transl Neurol 2019 09 30;6(9):1858-1871. Epub 2019 Aug 30.

Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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September 2019

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

Authors:
Roland Posset Andrea L Gropman Sandesh C S Nagamani Lindsay C Burrage Jirair K Bedoyan Derek Wong Gerard T Berry Matthias R Baumgartner Marc Yudkoff Matthias Zielonka Georg F Hoffmann Peter Burgard Andreas Schulze Shawn E McCandless Angeles Garcia-Cazorla Jennifer Seminara Sven F Garbade Stefan Kölker

Ann Neurol 2019 07 13;86(1):116-128. Epub 2019 May 13.

Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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July 2019

Mobility in osteogenesis imperfecta: a multicenter North American study.

Authors:
Karen M Kruger Angela Caudill Mercedes Rodriguez Celin Sandesh C S Nagamani Jay R Shapiro Robert D Steiner Michael B Bober Tracy Hart David Cuthbertson Jeff Krischer Peter H Byers Michaela Durigova Francis H Glorieux Frank Rauch V Reid Sutton Brendan Lee Eric T Rush Peter A Smith Gerald F Harris

Genet Med 2019 10 28;21(10):2311-2318. Epub 2019 Mar 28.

Orthopaedic Rehabilitation and Engineering Center, Marquette University, Milwaukee, WI, USA.

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October 2019

Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.

Authors:
Lindsay C Burrage Lillian Thistlethwaite Bridget M Stroup Qin Sun Marcus J Miller Sandesh C S Nagamani William Craigen Fernando Scaglia V Reid Sutton Brett Graham Adam D Kennedy Aleksandar Milosavljevic Brendan H Lee Sarah H Elsea

Genet Med 2019 09 23;21(9):1977-1986. Epub 2019 Jan 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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September 2019

Acid-Induced Downregulation of ASS1 Contributes to the Maintenance of Intracellular pH in Cancer.

Authors:
Alon Silberman Omer Goldman Odeya Boukobza Assayag Adi Jacob Shiran Rabinovich Lital Adler Joo Sang Lee Rom Keshet Alona Sarver Julia Frug Noa Stettner Sivan Galai Erez Persi Keren Bahar Halpern Yehudit Zaltsman-Amir Ben Pode-Shakked Raya Eilam Yair Anikster Sandesh C S Nagamani Igor Ulitsky Eytan Ruppin Ayelet Erez

Cancer Res 2019 02 20;79(3):518-533. Epub 2018 Dec 20.

Department of Biological Regulation, Weizmann Institute of Science, Rehovot, Israel.

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February 2019

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.

Authors:
Erfan Aref-Eshghi Eric G Bend Rebecca L Hood Laila C Schenkel Deanna Alexis Carere Rana Chakrabarti Sandesh C S Nagamani Sau Wai Cheung Philippe M Campeau Chitra Prasad Victoria Mok Siu Lauren Brady Mark A Tarnopolsky David J Callen A Micheil Innes Susan M White Wendy S Meschino Andrew Y Shuen Guillaume Paré Dennis E Bulman Peter J Ainsworth Hanxin Lin David I Rodenhiser Raoul C Hennekam Kym M Boycott Charles E Schwartz Bekim Sadikovic

Nat Commun 2018 11 20;9(1):4885. Epub 2018 Nov 20.

Department of Pathology and Laboratory Medicine, Western University, London, N6A 5W9, ON, Canada.

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November 2018

Alterations in non-type I collagen biomarkers in osteogenesis imperfecta.

Authors:
Lindsey Nicol Patrick Morar Ying Wang Kim Henriksen Shu Sun Morten Karsdal Rosamund Smith Sandesh C S Nagamani Jay Shapiro Brendan Lee Eric Orwoll

Bone 2019 03 2;120:70-74. Epub 2018 Oct 2.

Department of Medicine, Division of Endocrinology, Oregon Health & Science University, Portland, OR, United States of America.

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March 2019

A multicenter study to evaluate pulmonary function in osteogenesis imperfecta.

Authors:
Allison Tam Shan Chen Evan Schauer Ingo Grafe Venkata Bandi Jay R Shapiro Robert D Steiner Peter A Smith Michael B Bober Tracy Hart David Cuthbertson Jeffrey Krischer Mary Mullins Peter H Byers Robert A Sandhaus Michaela Durigova Francis H Glorieux Frank Rauch Vernon Reid Sutton Brendan Lee Eric T Rush Sandesh C S Nagamani

Clin Genet 2018 12 24;94(6):502-511. Epub 2018 Sep 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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December 2018

Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical Signatures.

Authors:
Joo Sang Lee Lital Adler Hiren Karathia Narin Carmel Shiran Rabinovich Noam Auslander Rom Keshet Noa Stettner Alon Silberman Lilach Agemy Daniel Helbling Raya Eilam Qin Sun Alexander Brandis Sergey Malitsky Maxim Itkin Hila Weiss Sivan Pinto Shelly Kalaora Ronen Levy Eilon Barnea Arie Admon David Dimmock Noam Stern-Ginossar Avigdor Scherz Sandesh C S Nagamani Miguel Unda David M Wilson Ronit Elhasid Arkaitz Carracedo Yardena Samuels Sridhar Hannenhalli Eytan Ruppin Ayelet Erez

Cell 2018 09 9;174(6):1559-1570.e22. Epub 2018 Aug 9.

Department of Biological Regulation, Weizmann Institute of Science, 7610001 Rehovot, Israel. Electronic address:

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September 2018

Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.

Authors:
Jordan Kho Xiaoyu Tian Wing-Tak Wong Terry Bertin Ming-Ming Jiang Shan Chen Zixue Jin Oleg A Shchelochkov Lindsay C Burrage Anilkumar K Reddy Hong Jiang Reem Abo-Zahrah Shuangtao Ma Ping Zhang Karl-Dimiter Bissig Jean J Kim Sridevi Devaraj George G Rodney Ayelet Erez Nathan S Bryan Sandesh C S Nagamani Brendan H Lee

Am J Hum Genet 2018 08;103(2):276-287

Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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August 2018

Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study.

Authors:
Mahim Jain Allison Tam Jay R Shapiro Robert D Steiner Peter A Smith Michael B Bober Tracy Hart David Cuthbertson Jeff Krischer Mary Mullins Sunil Bellur Peter H Byers Melanie Pepin Michaela Durigova Francis H Glorieux Frank Rauch Brendan Lee V Reid Sutton Sandesh C S Nagamani

Genet Med 2019 02 4;21(2):275-283. Epub 2018 Jul 4.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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February 2019

Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1.

Authors:
Allison Tam Joseph M Sliepka Sunil Bellur Collin Douglas Bray Christie M Lincoln Sandesh C S Nagamani

Clin Imaging 2018 Sep - Oct;51:160-163. Epub 2018 May 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA; Department of Medicine, Baylor College of Medicine, Houston, One Baylor Plaza, Houston, TX 77030, USA; Texas Children's Hospital, 6621 Fannin Street, Houston, TX 77030, USA. Electronic address:

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December 2018

Induction of Nitric-Oxide Metabolism in Enterocytes Alleviates Colitis and Inflammation-Associated Colon Cancer.

Authors:
Noa Stettner Chava Rosen Biana Bernshtein Shiri Gur-Cohen Julia Frug Alon Silberman Alona Sarver Narin N Carmel-Neiderman Raya Eilam Inbal Biton Meirav Pevsner-Fischer Niv Zmora Alexander Brandis Keren Bahar Halpern Ram Mazkereth Diego di Bernardo Nicola Brunetti-Pierri Muralidhar H Premkumar Gillian Dank Sandesh C S Nagamani Steffen Jung Alon Harmelin Ayelet Erez

Cell Rep 2018 05;23(7):1962-1976

Department of Biological Regulation, Weizmann Institute of Science, Rehovot, Israel. Electronic address:

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May 2018

A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers.

Authors:
Sandesh C S Nagamani Umang Agarwal Allison Tam Mahshid Azamian Ann McMeans Inka C Didelija Mahmoud A Mohammad Juan C Marini

Genet Med 2018 07 12;20(7):708-716. Epub 2017 Oct 12.

USDA/Agricultural Research Service, Children's Nutrition Research Center, Houston, USA, Texas.

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July 2018

Identification of novel candidate disease genes from de novo exonic copy number variants.

Authors:
Tomasz Gambin Bo Yuan Weimin Bi Pengfei Liu Jill A Rosenfeld Zeynep Coban-Akdemir Amber N Pursley Sandesh C S Nagamani Ronit Marom Sailaja Golla Lauren Dengle Heather G Petrie Reuben Matalon Lisa Emrick Monica B Proud Diane Treadwell-Deering Hsiao-Tuan Chao Hannele Koillinen Chester Brown Nora Urraca Roya Mostafavi Saunder Bernes Elizabeth R Roeder Kimberly M Nugent Patricia I Bader Gary Bellus Michael Cummings Hope Northrup Myla Ashfaq Rachel Westman Robert Wildin Anita E Beck LaDonna Immken Lindsay Elton Shaun Varghese Edward Buchanan Laurence Faivre Mathilde Lefebvre Christian P Schaaf Magdalena Walkiewicz Yaping Yang Sung-Hae L Kang Seema R Lalani Carlos A Bacino Arthur L Beaudet Amy M Breman Janice L Smith Sau Wai Cheung James R Lupski Ankita Patel Chad A Shaw Paweł Stankiewicz

Genome Med 2017 09 21;9(1):83. Epub 2017 Sep 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.

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September 2017

Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.

Authors:
Felicia Cao Linchao Lu Steven A Abrams Keli M Hawthorne Allison Tam Weidong Jin Brian Dawson Roman Shypailo Hao Liu Brendan Lee Sandesh C S Nagamani Lisa L Wang

Hum Mol Genet 2017 08;26(16):3046-3055

Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, Houston, TX 77030, USA.

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August 2017

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.

Authors:
Saskia N van der Crabben Marije P Hennus Grant A McGregor Deborah I Ritter Sandesh C S Nagamani Owen S Wells Magdalena Harakalova Ivan K Chinn Aaron Alt Lucie Vondrova Ron Hochstenbach Joris M van Montfrans Suzanne W Terheggen-Lagro Stef van Lieshout Markus J van Roosmalen Ivo Renkens Karen Duran Isaac J Nijman Wigard P Kloosterman Eric Hennekam Jordan S Orange Peter M van Hasselt David A Wheeler Jan J Palecek Alan R Lehmann Antony W Oliver Laurence H Pearl Sharon E Plon Johanne M Murray Gijs van Haaften

J Clin Invest 2016 08 18;126(8):2881-92. Epub 2016 Jul 18.

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August 2016

A metabolic link between the urea cycle and cancer cell proliferation.

Authors:
Sandesh C S Nagamani Ayelet Erez

Mol Cell Oncol 2016 Mar 18;3(2):e1127314. Epub 2016 Feb 18.

Department of Biological Regulation, Weizmann Institute of Science , Rehovot, Israel.

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March 2016

Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.

Authors:
Lindsay C Burrage Qin Sun Sarah H Elsea Ming-Ming Jiang Sandesh C S Nagamani Arthur E Frankel Everett Stone Susan E Alters Dale E Johnson Scott W Rowlinson George Georgiou Brendan H Lee

Hum Mol Genet 2015 Nov 10;24(22):6417-27. Epub 2015 Sep 10.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA, Texas Children's Hospital, Houston, TX 77030, USA,

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November 2015

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.

Authors:
Sandesh C S Nagamani George A Diaz William Rhead Susan A Berry Cynthia Le Mons Uta Lichter-Konecki James Bartley Annette Feigenbaum Andreas Schulze Nicola Longo William Berquist Renata Gallagher Dennis Bartholomew Cary O Harding Mark S Korson Shawn E McCandless Wendy Smith Jerry Vockley David Kronn Robert Zori Stephen Cederbaum J Lawrence Merritt Derek Wong Dion F Coakley Bruce F Scharschmidt Klara Dickinson Miguel Marino Brendan H Lee Masoud Mokhtarani

Mol Genet Metab 2015 Sep-Oct;116(1-2):29-34. Epub 2015 Aug 5.

Horizon Therapeutics Inc., 2000 Sierra Point Parkway Suite 400, Brisbane, CA 94005, USA.

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July 2016

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

Authors:
Shen Gu Bo Yuan Ian M Campbell Christine R Beck Claudia M B Carvalho Sandesh C S Nagamani Ayelet Erez Ankita Patel Carlos A Bacino Chad A Shaw Paweł Stankiewicz Sau Wai Cheung Weimin Bi James R Lupski

Hum Mol Genet 2015 Jul 23;24(14):4061-77. Epub 2015 Apr 23.

Department of Molecular & Human Genetics, Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA, Texas Children's Hospital, Houston, TX 77030, USA and

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July 2015

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

Authors:
Jennifer E Posey Lindsay C Burrage Philippe M Campeau James T Lu Tanya N Eble Lisa Kratz Alan E Schlesinger Richard A Gibbs Brendan H Lee Sandesh C S Nagamani

Am J Med Genet A 2015 Jun 2;167(6):1309-14. Epub 2015 Apr 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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June 2015

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

Authors:
Ian M Campbell Bo Yuan Caroline Robberecht Rolph Pfundt Przemyslaw Szafranski Meriel E McEntagart Sandesh C S Nagamani Ayelet Erez Magdalena Bartnik Barbara Wiśniowiecka-Kowalnik Katie S Plunkett Amber N Pursley Sung-Hae L Kang Weimin Bi Seema R Lalani Carlos A Bacino Mala Vast Karen Marks Michael Patton Peter Olofsson Ankita Patel Joris A Veltman Sau Wai Cheung Chad A Shaw Lisenka E L M Vissers Joris R Vermeesch James R Lupski Paweł Stankiewicz

Am J Hum Genet 2014 Aug 31;95(2):173-82. Epub 2014 Jul 31.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Institute of Mother and Child, Warsaw 01-211, Poland. Electronic address:

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August 2014

Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.

Authors:
Lindsay C Burrage Mahim Jain Laura Gandolfo Brendan H Lee Sandesh C S Nagamani

Mol Genet Metab 2014 Sep-Oct;113(1-2):131-5. Epub 2014 Jul 3.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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June 2015

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.

Authors:
Sirisha Peddibhotla Sandesh C S Nagamani Ayelet Erez Jill V Hunter J Lloyd Holder Mary E Carlin Patricia I Bader Helene M F Perras Judith E Allanson Leslie Newman Gayle Simpson LaDonna Immken Erin Powell Aaron Mohanty Sung-Hae L Kang Pawel Stankiewicz Carlos A Bacino Weimin Bi Ankita Patel Sau W Cheung

Eur J Hum Genet 2015 Jan 16;23(1):54-60. Epub 2014 Apr 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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January 2015

Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.

Authors:
Lindsay C Burrage Sandesh C S Nagamani Philippe M Campeau Brendan H Lee

Hum Mol Genet 2014 Sep 20;23(R1):R1-8. Epub 2014 Mar 20.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA Howard Hughes Medical Institute, Houston, TX 77030, USA

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September 2014

Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes.

Authors:
Susan A Berry Uta Lichter-Konecki George A Diaz Shawn E McCandless William Rhead Wendy Smith Cynthia Lemons Sandesh C S Nagamani Dion F Coakley Masoud Mokhtarani Bruce F Scharschmidt Brendan Lee

Mol Genet Metab 2014 May 21;112(1):17-24. Epub 2014 Feb 21.

Baylor College of Medicine, Houston, TX, USA.

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May 2014

Evaluation of teriparatide treatment in adults with osteogenesis imperfecta.

Authors:
Eric S Orwoll Jay Shapiro Sandra Veith Ying Wang Jodi Lapidus Chaim Vanek Jan L Reeder Tony M Keaveny David C Lee Mary A Mullins Sandesh C S Nagamani Brendan Lee

J Clin Invest 2014 Feb 27;124(2):491-8. Epub 2014 Jan 27.

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February 2014

The practice of adult genetics: a 7-year experience from a single center.

Authors:
Tanya N Eble Sandesh C S Nagamani Luis M Franco Sharon E Plon Maria Blazo Shweta U Dhar

Am J Med Genet A 2013 Jan 13;161A(1):89-93. Epub 2012 Dec 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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January 2013

A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria.

Authors:
Sandesh C S Nagamani Oleg A Shchelochkov Mary A Mullins Susan Carter Brendan C Lanpher Qin Sun Soledad Kleppe Ayelet Erez E O'Brian Smith Juan C Marini Brendan Lee

Mol Genet Metab 2012 Nov 17;107(3):315-21. Epub 2012 Sep 17.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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November 2012

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.

Authors:
George A Diaz Lauren S Krivitzky Masoud Mokhtarani William Rhead James Bartley Annette Feigenbaum Nicola Longo William Berquist Susan A Berry Renata Gallagher Uta Lichter-Konecki Dennis Bartholomew Cary O Harding Stephen Cederbaum Shawn E McCandless Wendy Smith Gerald Vockley Stephen A Bart Mark S Korson David Kronn Roberto Zori J Lawrence Merritt Sandesh C S Nagamani Joseph Mauney Cynthia Lemons Klara Dickinson Tristen L Moors Dion F Coakley Bruce F Scharschmidt Brendan Lee

Hepatology 2013 Jun 3;57(6):2171-9. Epub 2013 Jan 3.

Mount Sinai School of Medicine, Department of Genetics and Genomic Sciences, Department of Pediatrics, New York, NY, USA.

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June 2013

Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.

Authors:
Sandesh C S Nagamani Ayelet Erez Frank J Probst Patricia Bader Patricia Evans Linda A Baker Ping Fang Terry Bertin Patricia Hixson Pawel Stankiewicz David Nelson Ankita Patel Sau Wai Cheung

Neurogenetics 2012 Nov 14;13(4):333-9. Epub 2012 Aug 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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November 2012

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.

Authors:
Sandesh C S Nagamani Ayelet Erez Bruria Ben-Zeev Moshe Frydman Susan Winter Robert Zeller Dima El-Khechen Luis Escobar Pawel Stankiewicz Ankita Patel Sau Wai Cheung

Eur J Hum Genet 2013 Mar 8;21(3):343-6. Epub 2012 Aug 8.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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March 2013

Optimizing therapy for argininosuccinic aciduria.

Authors:
Sandesh C S Nagamani Brendan Lee Ayelet Erez

Mol Genet Metab 2012 Sep 20;107(1-2):10-4. Epub 2012 Jul 20.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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September 2012

Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.

Authors:
Sandesh C S Nagamani Philippe M Campeau Oleg A Shchelochkov Muralidhar H Premkumar Kilian Guse Nicola Brunetti-Pierri Yuqing Chen Qin Sun Yaoping Tang Donna Palmer Anilkumar K Reddy Li Li Timothy C Slesnick Daniel I Feig Susan Caudle David Harrison Leonardo Salviati Juan C Marini Nathan S Bryan Ayelet Erez Brendan Lee

Am J Hum Genet 2012 May 26;90(5):836-46. Epub 2012 Apr 26.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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May 2012

Argininosuccinate lyase deficiency.

Authors:
Sandesh C S Nagamani Ayelet Erez Brendan Lee

Genet Med 2012 May 5;14(5):501-7. Epub 2012 Jan 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. Sandesh C.S. Nagamani

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May 2012

Requirement of argininosuccinate lyase for systemic nitric oxide production.

Authors:
Ayelet Erez Sandesh C S Nagamani Oleg A Shchelochkov Muralidhar H Premkumar Philippe M Campeau Yuqing Chen Harsha K Garg Li Li Asad Mian Terry K Bertin Jennifer O Black Heng Zeng Yaoping Tang Anilkumar K Reddy Marshall Summar William E O'Brien David G Harrison William E Mitch Juan C Marini Judy L Aschner Nathan S Bryan Brendan Lee

Nat Med 2011 Nov 13;17(12):1619-26. Epub 2011 Nov 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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November 2011