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Author Details

Rizwan Hamid
Vanderbilt University Medical Center
1995
190
36
PMIDPaper TitleJournal TitlePublished Year
37897121Probable digenic inheritance of Diamond-Blackfan anemia.Am J Med Genet A2024
37897121Probable digenic inheritance of Diamond-Blackfan anemia.Am J Med Genet A2024
36367783Molecular Function and Contribution of <i>TBX4</i> in Development and Disease.Am J Respir Crit Care Med2023
36367783Molecular Function and Contribution of <i>TBX4</i> in Development and Disease.Am J Respir Crit Care Med2023
38074074Novel variant in <i>CADM3</i> causes Charcot-Marie-Tooth disease.Brain Commun2023
37622199A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.Am J Med Genet A2023
36830934Neuro-Urology: Call for Universal, Resource-Independent Guidance.Biomedicines2023
37260130One treatment with onabotulinumtoxinA relieves symptoms of overactive bladder in patients refractory to one or more oral medications.Neurourol Urodyn2023
36748709Practical considerations for reinterpretation of individual genetic variants.Genet Med2023
37246601The contribution of mosaicism to genetic diseases and de novo pathogenic variants.Am J Med Genet A2023
36984839A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male.Metabolites2023
38074074Novel variant in <i>CADM3</i> causes Charcot-Marie-Tooth disease.Brain Commun2023
37622199A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.Am J Med Genet A2023
36984839A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male.Metabolites2023
37246601The contribution of mosaicism to genetic diseases and de novo pathogenic variants.Am J Med Genet A2023
37260130One treatment with onabotulinumtoxinA relieves symptoms of overactive bladder in patients refractory to one or more oral medications.Neurourol Urodyn2023
36748709Practical considerations for reinterpretation of individual genetic variants.Genet Med2023
36830934Neuro-Urology: Call for Universal, Resource-Independent Guidance.Biomedicines2023
34404618Definitions of Urinary Tract Infection Used in Interventional Studies Involving Neurourological Patients-A Systematic Review.Eur Urol Focus2022
35767006Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines.Genet Med2022
35490285Health Supervision for Children and Adolescents With Down Syndrome.Pediatrics2022
35362483Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases.J Clin Invest2022
35979710Botulinum toxin A injection to the external urethral sphincter for voiding dysfunction in females: A tertiary center experience.Neurourol Urodyn2022
33772995British Association of Urological Surgeons (BAUS) consensus document: Management of female voiding dysfunction.BJU Int2022
33822257Functional outcomes of vaginal surgery for urethral extrusion of mid-urethral tape in women.Int Urogynecol J2022
34404618Definitions of Urinary Tract Infection Used in Interventional Studies Involving Neurourological Patients-A Systematic Review.Eur Urol Focus2022
35767006Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines.Genet Med2022
35490285Health Supervision for Children and Adolescents With Down Syndrome.Pediatrics2022
35362483Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases.J Clin Invest2022
35979710Botulinum toxin A injection to the external urethral sphincter for voiding dysfunction in females: A tertiary center experience.Neurourol Urodyn2022
33822257Functional outcomes of vaginal surgery for urethral extrusion of mid-urethral tape in women.Int Urogynecol J2022
33772995British Association of Urological Surgeons (BAUS) consensus document: Management of female voiding dysfunction.BJU Int2022
32506387Is pre-operative urodynamic bladder function the true predictor of outcome of male sling for post prostatectomy incontinence?World J Urol2021
32067073Fertility and sexuality issues in congenital lifelong urology patients: male aspects.World J Urol2021
33811741British Association of Urological Surgeons (BAUS) and Nurses (BAUN) consensus document: management of the complications of long-term indwelling catheters.BJU Int2021
34065088KCNK3 Mutation Causes Altered Immune Function in Pulmonary Arterial Hypertension Patients and Mouse Models.Int J Mol Sci2021
33792985Prevalence of chronic pain following suburethral mesh sling implantation for post-prostatectomy incontinence.Neurourol Urodyn2021
33947782Familial Autonomic Ganglionopathy Caused by Rare <i>CHRNA3</i> Genetic Variants.Neurology2021
33835614British Association of Urological Surgeons (BAUS) consensus document: management of bladder and ureteric injury.BJU Int2021
34350617Intravesical onabotulinumtoxinA injections in patients on antiplatelet and anticoagulation therapy.Neurourol Urodyn2021
33103779A retrospective review of the long term clinical outcomes of patients with neurogenic lower urinary tract dysfunction following transverse myelitis.Neurourol Urodyn2021
32653952A comparison of flow rate curve shape and video-urodynamic findings in women with lower urinary tract symptoms: can flow rate curve shape predict female bladder outflow obstruction or detrusor underactivity?World J Urol2021
32989556Fertility and sexuality issues in congenital lifelong urology patients: female aspects.World J Urol2021
33372121Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.Pediatrics2021
32506387Is pre-operative urodynamic bladder function the true predictor of outcome of male sling for post prostatectomy incontinence?World J Urol2021
33220129Shifting the treatment paradigm in idiopathic overactive bladder.Int J Clin Pract2021
32719964OnabotulinumtoxinA is a well tolerated and effective treatment for refractory overactive bladder in real-world practice.Int Urogynecol J2021
33385213TBX4 Transcription Factor Is a Positive Feedback Regulator of Itself and Phospho-SMAD1/5.Am J Respir Cell Mol Biol2021
33106617The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.Genet Med2021
34423068Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review.Child Neurol Open2021
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Collaborators

Eric D Austin
Vanderbilt University Medical Center
Co-authored papers 29
John A Phillips
Vanderbilt University Medical Center
Co-authored papers 27
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 7
Vandana Shashi
Duke University School of Medicine
Co-authored papers 4
William A Gahl
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 4
Vickie Hannig
Vanderbilt University Medical Center
Co-authored papers 4
Tracy L McGregor
Alnylam Pharmaceuticals
Co-authored papers 4
George E Tiller
Co-authored papers 3
William G Wilson
Co-authored papers 3
Elly Brokamp
Vanderbilt Genetics Institute, Vanderbilt University Medical Center
Co-authored papers 3
Cynthia J Tifft
National Human Genome Research Institute
Co-authored papers 3
David R Adams
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 3
Jens Meiler
Vanderbilt University
Co-authored papers 3
John A Capra
Bakar Computational Health Sciences Institute, University of California san francisco
Co-authored papers 3
Lisa Bastarache
Vanderbilt University Medical Center
Co-authored papers 3
Bobby G Ng
Co-authored papers 2
Luis Rohena
Co-authored papers 2
Sara M Berger
Columbia University Irving Medical Center
Co-authored papers 2
Heiko Bratke
Co-authored papers 2
Giedre Grigelioniene
Co-authored papers 2
Lynne A Wolfe
National Institutes of Health Undiagnosed Diseases Program
Co-authored papers 2
Michael B Bober
Co-authored papers 2
John J Mulvihill
University of Oklahoma
Co-authored papers 2
Dunbar Ivy
Heart Institute, Children's Hospital Colorado, University of Colorado
Co-authored papers 2
Donna M Martin
University of Michigan ann arbor
Co-authored papers 2
Aris Baras
Co-authored papers 2
Euan A Ashley
Stanford University
Co-authored papers 2
Jean P Pfotenhauer
Vanderbilt University Medical Center
Co-authored papers 2
Cecilia Esteves
Harvard Medical School
Co-authored papers 2
Daniel R Carvalho
Co-authored papers 2
Release 1.2