ForbesDennisonPorterMD

Medical Genetics • Bethesda, MD

Clinical Genetics

Physician

Join to view full profile

Dr. Porter is on Doximity

As a Doximity member you'll join over two million verified healthcare professionals in a private, secure network.

Connect with other colleagues in the same hospital or clinic
Search all U.S. specialist profiles and refer a patient
Read the latest clinical news and earn CME/CEU credits

See Dr. Porter's full profile

Already have an account?

Office
10 Center Dr
10-Crc, Room 5-2571
Bethesda, MD 20892
Phone+1 301-435-4432
Is this information wrong?

Education & Training

Washington University/B-JH/SLCH ConsortiumResidency, Pediatrics, 1989 - 1992
Washington University in St. Louis School of MedicineClass of 1989

Certifications & Licensure

MD State Medical License 1993 - 2023
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Clinical Trials

Study of Smith-Lemli-Opitz Syndrome Start of enrollment: 1998 Sep 13
Completed
Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Start of enrollment: 2002 Oct 09
Recruiting
Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Start of enrollment: 2003 Jul 01
Completed
Phase 2
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Start of enrollment: 2006 Aug 14
Recruiting
Streptococcal Infection and Respiratory Distress in Newborns Start of enrollment: 2008 Feb 04
Completed
Cholesterol in ASD: Characterization and Treatment Start of enrollment: 2009 Jul 28
Completed
Phase 1, Phase 2
Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Start of enrollment: 2009 Aug 01
Completed
Phase 1, Phase 2
Exome Sequencing in Autistic Spectrum Disorder Start of enrollment: 2010 Jan 21
Completed
Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Start of enrollment: 2011 Jan 01
Terminated
Not Applicable
Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols Start of enrollment: 2011 Jun 16
Completed
A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Start of enrollment: 2011 Jun 29
Withdrawn
Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Start of enrollment: 2013 Jan 01
Completed
Phase 1
Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Start of enrollment: 2014 Apr 25
Completed
Phase 1, Phase 2
Join now to see all

Publications & Presentations

PubMed

Brain proton MR spectroscopy measurements in CLN3 disease.
An N Dang Do, Eva H Baker, Cristan A Farmer, Ariane G Soldatos, Audrey E Thurm, Forbes D Porter> ;Molecular Genetics and Metabolism. 2023 May 1
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
An N Dang Do, Irene J Chang, Xutian Jiang, Lynne A Wolfe, Bobby G Ng, Christina Lam, Rhonda E Schnur, Katrina Allis, Hana Hansikova, Nina Ondruskova, Shawn D O'Connor,...> ;Journal of Inherited Metabolic Disease. 2023 Mar 1
1 citations
Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1.
Kiersten Campbell, Niamh X Cawley, Rachel Luke, Katelin E J Scott, Nicholas Johnson, Nicole Y Farhat, Derek Alexander, Christopher A Wassif, Wenping Li, Stephanie M Co...> ;Biomarker Research. 2023 Jan 31
1 citations
A differential proteomics study of cerebrospinal fluid from individuals with Niemann-Pick disease, Type C1.
Wenping Li, Melissa R Pergande, Christopher A Crutchfield, Brian C Searle, Peter S Backlund, Jaqueline A Picache, Kathryn Burkert, Nicole M Yanjanin-Farhat, Paul S Bla...> ;Proteomics. 2023 Jan 13
1 citations
Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease.
Mark L Schultz, Kylie J Schache, Ruth D Azaria, Esmée Q Kuiper, Steven Erwood, Evgueni A Ivakine, Nicole Y Farhat, Forbes D Porter, Koralege C Pathmasiri, Stephanie M ...> ;JCI Insight. 2022 Dec 8
2 citations
Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1.
Neena Agrawal, Nicole Y Farhat, Ninet Sinaii, An Dang Do, Changrui Xiao, Elizabeth Berry-Kravis, Simona Bianconi, Ruturaj Masvekar, Bibiana Bielekova, Beth Solomon, Fo...> ;Genetics in Medicine. 2023 Mar 1
Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis.
Amelia Luckett, Muhammad Yousef, Cynthia Tifft, Kisha Jenkins, Andrew Smith, Andrea Munoz, Rachel Quimby, Forbes D Porter, An Ngoc Dang Do> ;American Journal of Medical Genetics. Part A. 2023 Mar 1
1 citations
Phenotypic expression of swallowing function in Niemann-Pick disease type C1.
Beth I Solomon, Andrea M Muñoz, Ninet Sinaii, Nicole M Farhat, Andrew C Smith, Simona Bianconi, An Dang Do, Michael C Backman, Leonza Machielse, Forbes D Porter> ;Orphanet Journal of Rare Diseases. 2022 Sep 5
6 citations
CLN3 is required for the clearance of glycerophosphodiesters from lysosomes.
Nouf N Laqtom, Wentao Dong, Uche N Medoh, Andrew L Cangelosi, Vimisha Dharamdasani, Sze Ham Chan, Tenzin Kunchok, Caroline A Lewis, Ivonne Heinze, Rachel Tang, Christi...> ;Nature. 2022 Sep 1
2 citations
Modeling SARS-CoV-2 and influenza infections and antiviral treatments in human lung epithelial tissue equivalents.
Hoda Zarkoob, Anna Allué-Guardia, Yu-Chi Chen, Andreu Garcia-Vilanova, Olive Jung, Steven Coon, Min Jae Song, Jun-Gyu Park, Fatai Oladunni, Jesse Miller, Yen-Ting Tung...> ;Communications Biology. 2022 Aug 12
1 citations
Complex N-Linked Glycosylation: A Potential Modifier of Niemann-Pick Disease, Type C1 Pathology.
Niamh X Cawley, Anna T Lyons, Daniel Abebe, Rachel Luke, Julia Yerger, Rebecca Telese, Christopher A Wassif, Joan E Bailey-Wilson, Forbes D Porter> ;International Journal of Molecular Sciences. 2022 May 3
2 citations
Phenotype assessment for neurodegenerative murine models with ataxia and application to Niemann-Pick disease, type C1.
Julia Yerger, Antony C Cougnoux, Craig B Abbott, Rachel Luke, Tannia S Clark, Niamh X Cawley, Forbes D Porter, Cristin D Davidson> ;Biology Open. 2022 Apr 15
2 citations
Use of the Vineland-3, a measure of adaptive functioning, in CLN3.
An N Dang Do, Audrey E Thurm, Cristan A Farmer, Ariane G Soldatos, Colby E Chlebowski, Julie K O'Reilly, Forbes D Porter> ;American Journal of Medical Genetics. Part A. 2022 Apr 1
1 citations
Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.
Laura L Baxter, Dawn E Watkins-Chow, Nicholas L Johnson, Nicole Y Farhat, Frances M Platt, Ryan K Dale, Forbes D Porter, William J Pavan, Jorge L Rodriguez-Gil> ;Scientific Reports. 2022 Feb 9
Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1.
Oscar C W Chen, Stephan Siebel, Alexandria Colaco, Elena-Raluca Nicoli, Nick Platt, Dawn Shepherd, Stephanie Newman, Andrew E Armitage, Nicole Y Farhat, George Seligma...> ;Wellcome Open Research. 2022 Jan 1
1 citations
Glycerophosphoinositol is Elevated in Blood Samples Frompigs,Mice, and CLN3-Affected Individuals.
Jon J Brudvig, Vicki J Swier, Tyler B Johnson, Jacob C Cain, Melissa Pratt, Mitch Rechtzigel, Hannah Leppert, An N Dang Do, Forbes D Porter, Jill M Weimer> ;Biomarker Insights. 2022 Jan 1
1 citations
Consistently high agreement between independent raters of Niemann-Pick type C1 clinical severity scale in phase 2/3 trial
Nicole Y. Farhat, Laurie Bailey, Katherine Friedmann, Donald M. Bushnell, Danielle Rodriguez, Elizabeth Berry-Kravis, Forbes D. Porter> ;Pediatric Neurology. 2021 Nov 28
3 citations
Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1.
Antony Cougnoux, Julia C Yerger, Mason Fellmeth, Jenny Serra-Vinardell, Fatemeh Navid, Christopher A. Wassif, Niamh X. Cawley, Forbes D. Porter> ;Molecular Genetics and Metabolism. 2021 Nov 16
5 citations
A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1.
Anika V. Prabhu, Insung Kang, Raffaella De Pace, Christopher A. Wassif, Hideji Fujiwara, Pamela Kell, Xuntian Jiang, Daniel S. Ory, Juan S. Bonifacino, Michael E. Ward...> ;BMC Biology. 2021 Oct 1
4 citations
Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits.
Elaine Tierney, Alan T. Remaley, Audrey Thurm, Leah Jager, Christopher A. Wassif, Lisa E. Kratz, Joan E. Bailey-Wilson, Irena Bukelis, Geeta Sarphare, Eun Sol Jung, Bo...> ;Translational Psychiatry. 2021 Sep 9
6 citations
Transcriptome of HPβCD-treated Niemann-pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.
Jorge L Rodriguez-Gil, Laura L. Baxter, Dawn E. Watkins-Chow, Nicholas L Johnson, Cristin Davidson, Steven R Carlson, Arturo Incao, Nisc Comparative Sequencing Program...> ;Human Molecular Genetics. 2021 Jul 22
8 citations
Hepatocellular carcinoma as a complication of Niemann-Pick disease type C1.
Jorge L. Rodriguez-Gil, Simona Bianconi, Nicole Y. Farhat, David E. Kleiner, Marie V. Nelson, Forbes D. Porter> ;American Journal of Medical Genetics. Part A. 2021 Jun 17
5 citations
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model
Mark D. Levin, Simona Bianconi, Andrew Smith, Niamh X. Cawley, An Dang Do, Dylan Hammond, Julia F Grafstein, Audrey Thurm, Judith Miller, John Perreault, Audrey Noguch...> ;Genetics in Medicine. 2021 May 28
7 citations
A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1.
Margaret M. Reynolds, Laura Linneman, Sofia E. Luna, Barbara B. Warner, Yumirle P. Turmelle, Sakil Kulkarni, Xuntian Jiang, Geetika Khanna, Marwan Shinawi, Forbes D. P...> ;Molecular Genetics and Metabolism Reports. 2021 May 26
The role of Niemann-Pick type C2 in zebrafish embryonic development.
Wei-Chia Tseng, Ana J Johnson Escauriza, Chon-Hwa Tsai-Morris, Benjamin Feldman, Ryan K Dale, Christopher A Wassif, Forbes D Porter> ;Development. 2021 Apr 1
Join now to see all

Press Mentions

New Drug for Niemann-Pick Disease Type C1 Appears Safe, EffectiveAugust 11th, 2017
Item of Interest: NICHD Researchers Collaborate with Basic Scientists to Understand Rare, Fatal Childhood Neurological DisorderOctober 5th, 2022

ForbesDennisonPorterMD

Dr. Porter is on Doximity

Education & Training

Certifications & Licensure

Clinical Trials

Publications & Presentations

Press Mentions

Viewing the full profile is available to verified healthcare professionals only.