Dr. Atwal is a board-certified clinical and medical biochemical geneticist. He formerly served as Mayo Clinic’s Medical Director for the Center for Individualized Medicine and Clinical Lead for the Department of Clinical Genomics at the Jacksonville campus.
Dr. Atwal’s clinical interests include clinical genomics, undiagnosed diseases following lengthy diagnostic odysseys and inborn errors of metabolism including mitochondrial diseases. Through his work, he has helped discover two new genetic connective tissue syndromes that results from defects in the FLNA & AEBP1 genes, helped develop an untargeted metabolomic screening test for inborn errors of metabolism.
Dr. Atwal has published extensively on human genetics with over 100 publications to date. He has presented platform presentations at numerous regional, national and international conferences. He has chaired educational sessions at national meetings and has sat on panel discussions on interesting topics. He has been invited to speak internationally at plenary conferences in North America and Europe. In addition, he has participated in over 50 scientific exhibits and presentations at national and international societies and meetings.
Presently Clinical and medical biochemical geneticist at Atwal Clinic, Florida, USA
Previously worked as the Medical Director for Mayo Clinic's Center for Individualized Medicine and Clinical Lead for the Department of Clinical Genomics at Jacksonville, USA
The North American Metabolic Academy Academic Scholarship award
The Western Society of Pediatric Research Mead Johnson Travel award
The Neurobiology of Disease in Children Young Investigator award
The Wellcome Trust Mitochondrial Travel Scholarship
New connective tissue syndrome due to novel mutation in FLNA gene
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma
Clinical Whole Exome Sequencing: Are We There Yet?
Successful implementation of a nurse-led teaching programme to independently administer subcutaneous methotrexate in the community setting to children with Crohn’s disease.
Drug Note: Dipyridamole.
Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome.
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Hemodialysis Is An Effective Treatment In Acute Metabolic Decompensation of Maple Syrup Urine Disease.
A Case of Anterior Segment Dysgenesis With Iridolenticular Adhesions in Trisomy 18
Novel Mutations In NPHS1 Are A Rare Cause of Congenital Nephrotic Syndrome
Clinical Phenotype of Combined Miller-Dieker Syndrome and 22q11.2 Deletion Syndrome
Mosaic paternal genome-wide uniparental isodisomy with down syndrome.
Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.
Molybdenum cofactor deficiency
Prenatally Diagnosed Cases of Binder Phenotype Complicated By Respiratory Distress In The Immediate Postnatal Period
Holocarboxylase synthetase deficiency pre and post newborn screening.
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.
Diagnosis of Adenylosuccinate Lyase Deficiency by Metabolomic Profiling of Plasma
A Case of Two Repeats: Huntington’s Disease & Spinocerebellar Ataxia Type 8
Early onset limb-girdle muscular dystrophy with atypical presentation resulting from two rare ANO5 variants in a female athlete.
Case Report:5-Year Follow-Up of Adult Late-Onset Mitochondrial Encephalomyopathy with Lactic Acid and Stroke-Like Episodes (MELAS)
Expansion of the phenotypic spectrum of propionic acidemia with isolated elevated propionylcarnitine
Novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics
Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing
Late-Onset Mitochondrial Encephalomyopathy with Lactic Acid and Stroke-Like Episodes (MELAS), defining symptomology
BARD1-truncating variant c.1921C>T in a patient with re-occurring breast cancer
Novel Pathogenic Variant in TGFBR2 Confirmed By Molecular Modeling Is A Rare Cause of Loeys-Dietz Syndrome
Whole exome sequencing identifies atypical Welander distal myopathy in patient
A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant 698del4
The Clinical Heterogeneity of Late-Onset MELAS
Whole exome sequencing of a female with delayed motor development, hypotonia, ophthalmoplegia, and severe scoliosis reveals two novel variants in RYR1
The Role of Screening MRI in the Era of Next Generation Sequencing and Moderate-Risk Genetic Mutations
Late onset asymptomatic Pancreatic Neuroendocrine tumor – A case report on the phenotypic expansion for MEN1
Maple syrup urine disease: mechanisms and management
Palatal Tremor Reported In A Patient With Spastic Paraplegia 7
Novel GFAP Variant in Adult-onset Alexander Disease with Progressive Ataxia and Palatal Tremor
Palpitations and asthenia associated with venlafaxine in a CYP2D6 poor metabolizer and CYP2C19 intermediate metabolizer
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency
Observed Frequency and Challenges of Variant Reclassification in a Hereditary Cancer Clinic
Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again
Co-occurrence of a novel PDGFRB variant and likely pathological variant of CASR with extensive intracranial calcifications and hypocalcaemia
Biallelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome
Undiagnosed Partial Ornithine Transcarbamylase Deficiency Presenting Postoperatively as Agitated Delirium
Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotype
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema
Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant.
Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family
A 2-Year-Old Child With Bilateral Ectopia Lentis And A Novel FBN1 Gene Variant Cys129Ser
Physician interpretation of variants of uncertain significance.
Patient with Marfan syndrome and a Novel Variant in FBN1 presenting with Bilateral Popliteal Artery Aneurysm: A Case Report
Case report: Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement
Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.
Personalized molecular modeling for pinpointing associations of protein dysfunction and variants associated with hereditary cancer syndromes.
Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.
A Tale With An Infiltrative Twist: Two Wrongs Make A Right?
Biparental Inheritance of Mitochondrial DNA in Humans.
Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature Review.
Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments.
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia.
X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia.
How Mayo Clinic’s Center for Individualized Medicine Is Impacting Patient Care.
Home Administration Of Subcutaneous Methotrexate For Paediatric Patients With Crohn’s Disease Is Possible And Cost Effective.
Mutations In The Tetratricopeptide 19 Gene TTC19 Are A Rare Cause of Leigh Syndrome.
Biomarkers for Evidence of Mitochondrial Dysfunction in Cobalamin C Disease.
Expanding The Phenotype of HDAC8 Mutations.
Book Chapter: Mayo Clinic Family Health Book; Chapter 14 – Genetics & Disease, 2017 Update
