Publications by authors named "Alexander Asamoah"

24Publications

Child Neurology: Triosephosphate isomerase deficiency.

Neurology 2020 Sep 1. Epub 2020 Sep 1.

University of Louisville School of Medicine, Louisville, KY; Division of Pediatric Pulmonology (S.B., R.M.).

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http://dx.doi.org/10.1212/WNL.0000000000010745DOI Listing
September 2020

Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients.

Clin Chim Acta 2020 Oct 10;509:126-134. Epub 2020 Jun 10.

Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, United States; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, United States.

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http://dx.doi.org/10.1016/j.cca.2020.06.014DOI Listing
October 2020

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 01 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

Unusual Metabolites in a Patient with Isovaleric Acidemia.

Clin Chem 2019 04;65(4):595-597

Department of Pediatrics, University of Louisville, Louisville, KY.

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http://www.clinchem.org/lookup/doi/10.1373/clinchem.2018.300
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http://dx.doi.org/10.1373/clinchem.2018.300558DOI Listing
April 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Diarrhoea morbidity patterns in Central Region of Ghana.

Pan Afr Med J 2016 1;25(Suppl 1):17. Epub 2016 Oct 1.

Ghana Field Epidemiology and Laboratory Training Programme (GFELTP), Accra, Ghana.

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http://dx.doi.org/10.11604/pamj.supp.2016.25.1.6261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5257019PMC
March 2017

Fetal alcohol spectrum disorders: guidance for recognition, diagnosis, differential diagnosis and referral.

Curr Probl Pediatr Adolesc Health Care 2014 Apr;44(4):88-95

University of Louisville, Louisville, KY.

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http://dx.doi.org/10.1016/j.cppeds.2013.12.008DOI Listing
April 2014

Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis.

Am J Med Genet A 2014 Apr 23;164A(4):1069-74. Epub 2014 Jan 23.

WCEC Cytogenetic Laboratory, Department of Pediatrics, University of Louisville, Louisville, Kentucky.

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http://dx.doi.org/10.1002/ajmg.a.36396DOI Listing
April 2014

Fetal alcohol spectrum disorders (FASD): what medical professionals need to know.

J Ky Med Assoc 2009 May;107(5):177-80

University of Louisville School of Medicine, Department of Pediatrics, Medicine, 571 S Floyd Street, Louisville, Kentucky 40202, USA.

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May 2009

Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus.

Eur J Hum Genet 2009 Jan 15;17(1):30-6. Epub 2008 Oct 15.

J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA.

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http://dx.doi.org/10.1038/ejhg.2008.183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2605173PMC
January 2009

Perinatal autopsy findings in three cases of jugular lymphatic obstruction sequence and cardiac polyvalvular dysplasia.

Pediatr Dev Pathol 2008 Mar-Apr;11(2):133-7. Epub 2007 Jun 12.

Department of Pathology, University of Louisville, Kosair Children's Hospital, 231 East Chestnut Street, Louisville, KY 40202, USA.

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http://journals.sagepub.com/doi/10.2350/07-02-0230.1
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http://dx.doi.org/10.2350/07-02-0230.1DOI Listing
June 2008

The neuropsychological phenotype of velocardiofacial syndrome (VCFS): relationship to psychopathology.

Arch Clin Neuropsychol 2006 Feb 22;21(2):175-84. Epub 2005 Nov 22.

Eastern Michigan University, Ypsilanti, MI, USA.

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http://dx.doi.org/10.1016/j.acn.2005.09.001DOI Listing
February 2006

Memory and learning in children with 22q11.2 deletion syndrome: evidence for ventral and dorsal stream disruption?

Child Neuropsychol 2005 Feb;11(1):55-71

Department of Behavioral Health, Division of Neuropsychology, Henry Ford Health System, Detroit, Michigan 48202, USA.

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http://dx.doi.org/10.1080/09297040590911202DOI Listing
February 2005

Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay.

Am J Med Genet A 2003 Apr;118A(1):82-5

Department of Medical Genetics, Henry Ford Hospital, Detroit, Michigan 48202, USA.

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http://dx.doi.org/10.1002/ajmg.a.10929DOI Listing
April 2003