Paul J Benke

Paul J Benke

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Paul J Benke

Paul J Benke

Publications by authors named "Paul J Benke"

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Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.

Mol Genet Metab 2019 01 8;126(1):53-63. Epub 2018 Nov 8.

Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA 92868, USA; Department of Pediatrics, University of California Irvine, Orange, CA 92868, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183059
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http://dx.doi.org/10.1016/j.ymgme.2018.11.001DOI Listing
January 2019

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.

Mol Cytogenet 2018 1;11:43. Epub 2018 Aug 1.

1Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine, 1601 NW 12th Avenue, Miami, FL 33136 USA.

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http://dx.doi.org/10.1186/s13039-018-0390-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090943PMC
August 2018

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.

Mol Genet Metab 2018 03 12;123(3):309-316. Epub 2017 Dec 12.

Division of Clinical Genetic and Metabolic Disorders, Tawam Hospital, Al-Ain, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.12.009DOI Listing
March 2018

Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth.

Pediatr Neurol 2018 02 23;79:61-64. Epub 2017 Oct 23.

GeneDx, Gaithersburg, Maryland.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.10.013DOI Listing
February 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.

J Child Neurol 2017 05 31;32(6):543-549. Epub 2017 Jan 31.

6 Division of Clinical Genetics and Metabolic Disorders, Pediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1177/0883073817690094DOI Listing
May 2017

Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child.

Hum Genet 2017 02 30;136(2):253-261. Epub 2016 Nov 30.

Departments of Medicine and Physiology/Biophysics, University of California, Irvine, CA 92697.

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http://link.springer.com/10.1007/s00439-016-1751-x
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http://dx.doi.org/10.1007/s00439-016-1751-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5263180PMC
February 2017

Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds.

Mol Genet Genomic Med 2015 Jan 15;3(1):40-58. Epub 2014 Sep 15.

Department of Biologic and Materials Sciences, University of Michigan School of Dentistry 1210 Eisenhower Place, Ann Arbor, Michigan, 48108.

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http://dx.doi.org/10.1002/mgg3.111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299714PMC
January 2015

Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.

Genet Med 2007 Jan;9(1):23-33

Department of Medicine, Division of Cardiology, Miller School of Medicine, University of Miami, Miami, Florida 33101, USA.

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http://dx.doi.org/10.1097GIM.0b013e31802d74deDOI Listing
January 2007

46,XX sex reversal with partial duplication of chromosome arm 22q.

Am J Med Genet A 2004 Jun;127A(2):149-51

Division of Pediatric Endocrinology, University of Miami School of Medicine, 1601 NW 12th Avenue, Miami, FL 33136, USA.

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http://dx.doi.org/10.1002/ajmg.a.20630DOI Listing
June 2004

Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse.

Nat Genet 2003 Nov 12;35(3):264-9. Epub 2003 Oct 12.

Mental Health Research Institute, 205 Zina Pitcher Place, University of Michigan, Ann Arbor, Michigan 48109-0720, USA.

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http://dx.doi.org/10.1038/ng1255DOI Listing
November 2003