Publications by authors named "Eric Klee"

100Publications

Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.

Mol Genet Metab 2020 Nov 7. Epub 2020 Nov 7.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.11.003DOI Listing
November 2020

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report.

BMC Med Genet 2020 Nov 10;21(1):219. Epub 2020 Nov 10.

Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1186/s12881-020-01159-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7654171PMC
November 2020

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

Genet Med 2020 Nov 4. Epub 2020 Nov 4.

Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1038/s41436-020-00988-9DOI Listing
November 2020

Expansion of -Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report.

Child Neurol Open 2020 Jan-Dec;7:2329048X20955003. Epub 2020 Oct 14.

Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1177/2329048X20955003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7573717PMC
October 2020

A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.

Cold Spring Harb Mol Case Stud 2020 Aug 25;6(4). Epub 2020 Aug 25.

Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1101/mcs.a005165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476405PMC
August 2020

Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.

BMC Nephrol 2020 Aug 13;21(1):341. Epub 2020 Aug 13.

Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, 200 First St SW, Rochester, MN, 55905, USA.

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http://dx.doi.org/10.1186/s12882-020-02012-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7424659PMC
August 2020

Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa.

Thromb Res 2020 Nov 9;195:187-189. Epub 2020 Jul 9.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. Electronic address:

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http://dx.doi.org/10.1016/j.thromres.2020.07.014DOI Listing
November 2020

Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn's Disease.

J Clin Immunol 2020 Oct 27;40(7):1056-1061. Epub 2020 Jul 27.

Division of Pediatric Allergy and Immunology, Mayo Clinic Childrens Center, 200 First St SW, Rochester, MN, 55905, USA.

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http://dx.doi.org/10.1007/s10875-020-00822-6DOI Listing
October 2020

LeafCutterMD: an algorithm for outlier splicing detection in rare diseases.

Bioinformatics 2020 Nov;36(17):4609-4615

Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55902, USA.

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http://dx.doi.org/10.1093/bioinformatics/btaa259DOI Listing
November 2020

Computational Detection of Known Pathogenic Gene Fusions in a Normal Tissue Database and Implications for Genetic Disease Research.

Front Genet 2020 28;11:173. Epub 2020 Feb 28.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN, United States.

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http://dx.doi.org/10.3389/fgene.2020.00173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7059617PMC
February 2020

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Eur J Hum Genet 2020 06 31;28(6):770-782. Epub 2020 Jan 31.

Centre de Génétique et Centre de Référence Maladies Rares (Anomalies du Développement de l'Interrégion Est), Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.

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http://dx.doi.org/10.1038/s41431-020-0571-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253452PMC
June 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nat Commun 2020 01 30;11(1):595. Epub 2020 Jan 30.

Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.

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http://dx.doi.org/10.1038/s41467-020-14360-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992768PMC
January 2020

Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.

Hum Mutat 2020 05 6;41(5):973-982. Epub 2020 Feb 6.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/humu.23986DOI Listing
May 2020

Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations.

J Bone Miner Res 2020 Apr 16;35(4):662-670. Epub 2020 Jan 16.

Department of Medicine, Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1002/jbmr.3938DOI Listing
April 2020

Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism.

Eur J Med Genet 2020 Apr 25;63(4):103817. Epub 2019 Nov 25.

Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, 53226, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103817DOI Listing
April 2020

An intragenic duplication of leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I.

Cold Spring Harb Mol Case Stud 2019 12 13;5(6). Epub 2019 Dec 13.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1101/mcs.a004655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913153PMC
December 2019

Novel biallelic variants in associated with mitochondrial myopathy.

Cold Spring Harb Mol Case Stud 2019 12 13;5(6). Epub 2019 Dec 13.

Department of Medical Genetics, Mayo Clinic, Phoenix, Arizona 85054, USA.

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http://dx.doi.org/10.1101/mcs.a004309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913144PMC
December 2019

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2020 03 3;22(3):524-537. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
March 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

Three rare disease diagnoses in one patient through exome sequencing.

Cold Spring Harb Mol Case Stud 2019 12 13;5(6). Epub 2019 Dec 13.

Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1101/mcs.a004390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913146PMC
December 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification.

Am J Med Genet A 2019 09 26;179(9):1764-1777. Epub 2019 Jun 26.

Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1002/ajmg.a.61274DOI Listing
September 2019

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

Am J Hum Genet 2019 07 13;105(1):108-121. Epub 2019 Jun 13.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612521PMC
July 2019

Modeling post-translational modifications and cancer-associated mutations that impact the heterochromatin protein 1α-importin α heterodimers.

Proteins 2019 11 14;87(11):904-916. Epub 2019 Jun 14.

Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin.

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http://dx.doi.org/10.1002/prot.25752DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790107PMC
November 2019

Aurora kinase B-phosphorylated HP1α functions in chromosomal instability.

Cell Cycle 2019 06 26;18(12):1407-1421. Epub 2019 May 26.

b Genomics and Precision Medicine Center (GSPMC), Medical College of Wisconsin , Milwaukee , WI , USA.

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http://dx.doi.org/10.1080/15384101.2019.1618126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6592258PMC
June 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

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Molecular modeling of LDLR aids interpretation of genomic variants.

J Mol Med (Berl) 2019 04 18;97(4):533-540. Epub 2019 Feb 18.

Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226-0509, USA.

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http://dx.doi.org/10.1007/s00109-019-01755-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440939PMC
April 2019

Clinical spectrum of -related epileptic disorders.

Neurology 2019 03 8;92(11):e1238-e1249. Epub 2019 Feb 8.

From the University of Tübingen (S. Wolking, J.M., Y.G.W., H.L., J.S.), Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany; Luxembourg Centre for Systems Biomedicine (P.M.), University of Luxembourg, Esch-sur-Alzette; Pediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G., C.M.), Children's Hospital Anna Meyer, University of Florence, Italy; Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense; Department of Clinical and Experimental Epilepsy (S.B.), UCL Institute of Neurology and Epilepsy Society, UK, London; Division of Neurology (K.L.H., I.H.), Children's Hospital of Philadelphia, PA; Department of Pediatric Neurology (C.D.A.), Centre de Compétences Maladies Rares, CHU Besançon; Service de Génétique (N.C.), Hospices Civils des Lyon, Bron; GENDEV Team (N.C.), Neurosciences Research Center of Lyon, Bron, France; Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Beaumont Hospital (P.W.-W.), Dublin, Ireland; Department of Pediatrics, Division of Medical Genetics, Institute of Human Genetics (B.A.M.), Departments of Neurology and Pediatrics (A.N.), and Departments of Neurology and Pediatrics, and Institute of Human Genetics (M.R.C.), University of California, San Francisco; Department of Neurology (W.V.P.), University Hospitals Leuven, Belgium; Department of Pediatrics (L.L.S.), Hvidovre Hospital, Denmark; King's College Hospital (S.O., E.H., S.G., D.K.P.), London; Evelina London Children's Hospital (S.O., E.H., S.G.), London, UK; Section of Genetics (K.B., M.S.S.), Department of Pediatrics, University of Colorado and Children's Hospital Colorado, Aurora; Clinique Bernoise Montana (T.D.), Crans-Montana, Switzerland; Department of Neuropediatrics (H.M.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics (A.T.P., S.J.L.K., J.C.T.) and Department of Oncology (D.V.V.), University of Oxford, UK; Epilepsy Center (M.P.C.), Health Sciences Department, San Paolo Hospital, University of Milan; Child Neuropsychiatry (F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy; Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., C.K.), Mayo Clinic, Rochester, MN; Ambry Genetics (Z.P.), Aliso Viejo, CA; Department of Clinical Neuroscience (S.T.), King's College London; New Medicines (M.A., D.M.), UCB Pharma, Slough, UK; Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Research Institute for Rehabilitation, Transition and Palliation (G.J.K.), PMU Salzburg, Austria; Department of Neurology (D.H.L.), University of California, San Francisco; Neurogenetics Group (S. Weckhuysen), Center for Molecular Neurology, VIB, Antwerp; Laboratory of Neurogenetics (S. Weckhuysen), Institute Born-Bunge, University of Antwerp; Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Antwerp, Belgium; Department of Basic & Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience (D.K.P.), MRC Centre for Neurodevelopmental Disorders (D.K.P.), King's College London, UK; Evelina London Children's Hospital (D.K.P.), London, UK; Department of Neuropediatrics (I.H.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Institute of Neuroscience (R.H.T.), Henry Wellcome Building, Newcastle University; Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, Swansea, UK; Service de Génétique (G.L.), Hospices Civils des Lyon, Bron; GENDEV Team (G.L.), Neurosciences Research Center of Lyon, Bron, France; NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, London, UK; Cologne Center for Genomics (D.L.), University of Cologne, Germany; Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Cambridge; Psychiatric and Neurodevelopmental Genetics Unit (D.L.), Massachusetts General Hospital and Harvard Medical School, Boston.

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http://dx.doi.org/10.1212/WNL.0000000000007089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511102PMC
March 2019

Familial chronic megacolon presenting in childhood or adulthood: Seeking the presumed gene association.

Neurogastroenterol Motil 2019 04 20;31(4):e13550. Epub 2019 Jan 20.

Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1111/nmo.13550DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6432647PMC
April 2019

A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis.

Am J Med Genet A 2018 12 14;176(12):2846-2849. Epub 2018 Dec 14.

Department of Neurology, Mayo Clinic, Mayo Clinic, Scottsdale, Arizona.

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http://dx.doi.org/10.1002/ajmg.a.40626DOI Listing
December 2018

point mutations and familial intracranial aneurysms.

Neurology 2018 12 9;91(23):e2170-e2181. Epub 2018 Nov 9.

From the Department of Neuroscience (O.L.-B., C.L., K.H., P.G., A.I.S., R.L.W., O.A.R.), Center for Individualized Medicine (P.R.B., J.M.), Department of Health Sciences Research (P.R.B., Y.A.), Department of Neurology (E.E., R.V.-d-C., W.D.F., J.M.), Clinical Research Internship Study Program (P.G.), Department of Neurosurgery (D.M., W.D.F.), and Department of Clinical Genomics (O.A.R.), Mayo Clinic, Jacksonville, FL; Center for Individualized Medicine (E.W.K.), Department of Health Sciences Research (E.W.K.), Department of Laboratory Medicine and Pathology (E.W.K.), Department of Clinical Genomics (E.W.K.), and Department of Biochemistry and Molecular Biology (A.N.S., K.J.C.), Mayo Clinic, Rochester, MN; Department of Biology (K.H., O.A.R.), Basic Research Internship in Neuroscience and Cancer, University of North Florida, Jacksonville; Program in Molecular Medicine (S.D.), University of Massachusetts Medical School, Worcester; Division of Genetics (M.B.B.), Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE; and Section of Clinical Genetics & Genetic Counseling (S.J.), St. Christopher's Hospital for Children, Philadelphia, PA.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282233PMC
December 2018

GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease.

Acta Neuropathol Commun 2018 10 24;6(1):112. Epub 2018 Oct 24.

Center for Individualized Medicine, Mayo Clinic, Harwick 3, 200 First Street SW, Rochester, MN, 55905, USA.

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http://dx.doi.org/10.1186/s40478-018-0616-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201530PMC
October 2018

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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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype.

Clin Immunol 2019 10 30;207:55-57. Epub 2018 Sep 30.

Department of Clinical Genomics, College of Medicine, Mayo Clinic, Rochester, MN 55905. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2018.09.013DOI Listing
October 2019

Case-Based Learning in Translational Biomedical Research Education: Providing Realistic and Adaptive Skills for Early-Career Scientists.

Acad Med 2019 02;94(2):213-216

A.J. Greenberg-Worisek is assistant professor of epidemiology, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota. K.A. Campbell is assistant professor of molecular pharmacology and experimental therapeutics, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota. E.W. Klee is assistant professor of biomedical informatics, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota. N.P. Staff is associate professor of neurology, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota. L.A. Schimmenti is professor of pediatrics, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota. K.M. Weavers is manager of research operations, Center for Clinical and Translational Science, Mayo Clinic, Rochester, Minnesota. S.C. Ekker is professor of biochemistry and molecular biology, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota. A.J. Windebank is professor of neurology, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1097/ACM.0000000000002470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351155PMC
February 2019

Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties.

Front Genet 2018 25;9:276. Epub 2018 Jul 25.

Department of Health Science Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, United States.

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http://dx.doi.org/10.3389/fgene.2018.00276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6068234PMC
July 2018

Improving Single-Nucleotide Polymorphism-Based Fetal Fraction Estimation of Maternal Plasma Circulating Cell-Free DNA Using Bayesian Hierarchical Models.

J Comput Biol 2018 09 22;25(9):1040-1049. Epub 2018 Jun 22.

1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic , Rochester, Minnesota.

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https://www.liebertpub.com/doi/10.1089/cmb.2018.0056
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September 2018

Development and Verification of an RNA Sequencing (RNA-Seq) Assay for the Detection of Gene Fusions in Tumors.

J Mol Diagn 2018 07 19;20(4):495-511. Epub 2018 Jun 19.

Department of Laboratory Medicine and Pathology, Divisions of Laboratory Genetics and Experimental Pathology, Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2018.03.007DOI Listing
July 2018

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists.

J Mol Diagn 2018 01 21;20(1):4-27. Epub 2017 Nov 21.

Next Generation Sequencing Bioinformatics Pipeline Validation Working Group of the Clinical Practice Committee, Bethesda, Maryland; Department of Pathology and Laboratory Medicine, Children's Healthcare of Atlanta, Atlanta, Georgia.

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January 2018