LaurieADemmerMD

Medical Genetics • Charlotte, NC

Clinical Genetics

Medical Director, Division of Genetics Associate Pediatric Residency Program Director

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Office
1001 Blythe Blvd
Medical Center Plaza, Suite 200
Charlotte, NC 28203
Phone+1 704-381-8840

Fax+1 704-381-8848
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Education & Training

Washington University/B-JH/SLCH ConsortiumResidency, Pediatrics, 1987 - 1990
Washington University in St. Louis School of MedicineClass of 1987

Certifications & Licensure

NH State Medical License 2004 - Present
NC State Medical License 2012 - 2025
MA State Medical License 1993 - 2014
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Awards, Honors, & Recognition

Boston Magazine Castle Connolly, 2011

Publications & Presentations

PubMed

Early genetic testing in pediatric epilepsy: Diagnostic and cost implications.
Esplin, E. D., Shanna M Swartwood, Ana Morales, Kathryn E Hatchell, Chad Moretz, Dianalee McKnight, Laurie Demmer, Sarah Chagnon, Swaroop Aradhya, Edward D Esplin, Jos...> ;Epilepsia Open. 2024 Feb 1
4 citations
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Kelly Smallwood, Kristin E N Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep, Corrine Capannari, Margaret P Adam, Amber Begtrup, Debora R Ber...> ;American Journal of Human Genetics. 2023 May 4
204 citations
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College o...
Kandamurugu Manickam, Monica R. McClain, Laurie A. Demmer, Sawona Biswas, Hutton M. Kearney, Jennifer Malinowski, Lauren J. Massingham, Danny Miller, Timothy W. Yu, Fu...> ;Genetics in Medicine. 2021 Jul 1
4 citations
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
Natalie B Tan, Alistair T. Pagnamenta, Matteo P. Ferla, Jonathan Gadian, Brian Hy Chung, Marcus Cy Chan, Jasmine Lf Fung, Edwin H. Cook, Stephen J. Guter, Felix Boscha...> ;Journal of Medical Genetics. 2021 Jun 28
2 citations
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser, Grace M. Anbouba, Amy Armstrong-Javors, Ingrid Bader, Evan H. Baugh, Amber Begtrup, Caleb Bupp, Bert Callewaert...> ;Genetics in Medicine. 2021 Feb 1
39 citations
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.
Jennifer Malinowski, David T. Miller, Laurie A. Demmer, Jennifer L Gannon, Elaine Maria Pereira, Molly C Schroeder, Maren T. Scheuner, Anne Chun-Hui Tsai, Scott E. Hic...> ;Genetics in Medicine. 2020 Mar 23
13 citations
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Matias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, Cynthia M. Powell, Bader Alhaddad, Annette Seibt, Ortal Barel, Gali Heimer, Chen Hoffmann, Laurie A. Demmer, Yezm...> ;American Journal of Human Genetics. 2020 Feb 6
42 citations
Spectrum of K V 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders
Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra, Dennis M. Echevarria, Jeffrey D. Calhoun, John B. O’Connor, Katarina L. Fabre, Dianalee McKnight, Laurie A. Demmer, P...> ;Annals of Neurology. 2019 Dec 1
1 citations
An unusual case of nephrotic syndrome in a microcephalic infant: Answers.
Elizabeth Baker, Donald Weaver, Susan Massengill, Dana Mittag, Jane Juusola, Laurie Demmer> ;Pediatric Nephrology. 2019 Nov 1
An unusual case of nephrotic syndrome in a microcephalic infant: Questions.
Elizabeth Baker, Donald Weaver, Susan Massengill, Dana Mittag, Jane Juusola, Laurie Demmer> ;Pediatric Nephrology. 2019 Nov 1
57 citations
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Eric G. Bend, Erfan Aref-Eshghi, David B. Everman, R. Curtis Rogers, Sara S. Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather Davis, Katie Clarkson, Karen W. Grip...> ;Clinical Epigenetics. 2019 Apr 27
36 citations
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Konrad Platzer, Heinrich Sticht, Stacey L. Edwards, William Allen, Kaitlin M. Angione, Maria Teresa Bonati, Campbell Brasington, Megan T. Cho, Laurie A. Demmer, Tzipor...> ;American Journal of Human Genetics. 2019 Feb 7
29 citations
Cornelia de Lange syndrome in diverse populations
Leah Dowsett, Antonio R. Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, E.V. Badoe, Meow-Keong Thong, Eyby Leon, Katta M. Girisha, Anju Shukla, Shalini S...> ;American Journal of Medical Genetics. Part A. 2019 Feb 1
12 citations
Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23-26 February 2014
Bruce R. Korf, Miriam G. Blitzer, Laurie A. Demmer, Gerald L. Feldman, Michael S. Watson> ;Genetics in Medicine. 2017 Apr 27
3 citations
Development, Implementation, and Assessment of a Genetics Curriculum Across Institutions
Sarah K. Dotters-Katz, Ginger Hocutt, C. Michael Osborne, Emily Hardisty, Laurie A. Demmer, Neeta L. Vora> ;AJP Reports. 2016 Oct 1
34 citations
ALG1-CDG: clinical and molecular characterization of 39 unreported patients
Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, Jose E. Abdenur, Füsun Alehan, Alina T. Midro, Michael J. Bamshad, Rita B...> ;Human Mutation. 2016 Jul 1
104 citations
Recommendations for the integration of genomics into clinical practice.
Sarah Bowdin, Adel Gilbert, Emma Bedoukian, Christopher Carew, Margaret P. Adam, John W. Belmont, Barbara A. Bernhardt, Leslie G. Biesecker, Hans T. Bjornsson, Miriam ...> ;Genetics in Medicine. 2016 May 12
13 citations
Autosomal recessive MFN2‐related Charcot‐Marie‐Tooth disease with diaphragmatic weakness: Case report and literature review
Christopher A. Tan, Marina Rabideau, Amy Blevins, Marjorie Jody Westbrook, Tali Ekstein, Keith Nykamp, Anne Deucher, Amy Harper, Laurie Demmer> ;American Journal of Medical Genetics. Part A. 2016 Jun 1
8 citations
Surveying the current landscape of clinical genetics residency training
Caleb Bupp, Laurie A. Demmer, Robert A. Saul> ;Genetics in Medicine. 2015 May 1
28 citations
Professional Medical Education and Genomics
Laurie A. Demmer, Darrel Waggoner> ;Annual Review of Genomics and Human Genetics. 2014 Sep 3
14 citations
A description of spina bifida cases and co‐occurring malformations, 1976–2011
Samantha E. Parker, Mahsa M. Yazdy, Allen A. Mitchell, Laurie A. Demmer, Martha M. Werler> ;American Journal of Medical Genetics. Part A. 2014 Feb 1
43 citations
Expanding the SHOC2 Mutation Associated Phenotype of Noonan Syndrome with Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis
Karen W. Gripp, Dina J. Zand, Laurie A. Demmer, Carol E. Anderson, William B. Dobyns, Elaine H. Zackai, Elizabeth Denenberg, Kim Jenny, Deborah L. Stabley, Katia Sol-C...> ;American Journal of Medical Genetics. Part A. 2013 Aug 5
27 citations
Mouse model implicates GNB3 duplication in a childhood obesity syndrome
Ian S. Goldlust, Karen Hermetz, Lisa M. Catalano, Richard Barfield, Rebecca Cozad, Grace M. Wynn, Alev Cagla Ozdemir, Karen N. Conneely, Jennifer G. Mulle, Shikha Dhar...> ;Proceedings of the National Academy of Sciences of the United States of America. 2013 Sep 10
5 citations
Keratoconus in Costello syndrome.
Karen W. Gripp, Laurie A. Demmer> ;American Journal of Medical Genetics. Part A. 2013 Mar 13
21 citations
Maternal tea consumption during early pregnancy and the risk of spina bifida
Mahsa M. Yazdy, Sarah C. Tinker, Allen A. Mitchell, Laurie A. Demmer, Martha M. Werler> ;Birth Defects Research. Part A, Clinical and Molecular Teratology. 2012 Oct 1
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Hospital Affiliations

Atrium Health University CityCharlotte, North Carolina
Atrium Health's Carolinas Medical CenterCharlotte, North Carolina