P. Atwal

发表

Observed frequency and challenges of variant reclassification in a hereditary cancer clinic

S. Macklin, N. Durand, P. Atwal, 2017, Genetics in Medicine.

Personalized molecular modeling for pinpointing associations of protein dysfunction and variants associated with hereditary cancer syndromes

T. Caulfield, S. Macklin, P. Atwal, 2018, Molecular genetics & genomic medicine.

Palpitations and Asthenia Associated with Venlafaxine in a CYP2D6 Poor Metabolizer and CYP2C19 Intermediate Metabolizer

P. Atwal, S. Garcia, M. Schuh, 2017, Case reports in genetics.

Sex Differences, Genetic and Environmental Influences on Dilated Cardiomyopathy

L. Cooper, N. Norton, D. Fairweather, 2021, Journal of clinical medicine.

Protein modeling and clinical description of a novel in‐frame GLB1 deletion causing GM1 gangliosidosis type II

Michael T. Zimmermann, M. Zimmermann, P. Blackburn, 2018, Molecular genetics & genomic medicine.

A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA

P. Blackburn, J. Gass, S. Macklin, 2017, Familial Cancer.

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Johann M B Simbürger, P. Oefner, A. Hammers, 2018, Journal of the American Society of Nephrology : JASN.

Expansion of the clinical spectrum associated with AARS2‐related disorders

D. Zee, E. Middlebrooks, S. Naidu, 2019, American journal of medical genetics. Part A.

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

P. Blackburn, M. Whitelaw, T. Caulfield, 2020, Biomolecules.

Maple syrup urine disease: mechanisms and management

P. Blackburn, J. Gass, E. Klee, 2017, The application of clinical genetics.

Plasma and red blood cell membrane accretion and pharmacokinetics of RT001 (bis-allylic 11,11-D2-linoleic acid ethyl ester) during long term dosing in patients.

M. Shchepinov, J. Brenna, L. V. D. van der Ploeg, 2020, Journal of pharmaceutical sciences.

Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction

T. Caulfield, S. Macklin, P. Atwal, 2020, Case reports in medicine.

Molybdenum cofactor deficiency

F. Scaglia, P. Atwal, C. Staufner, 2018, Atlas of Inherited Metabolic Diseases.

RT001 in Progressive Supranuclear Palsy—Clinical and In-Vitro Observations

M. Shchepinov, P. Angelova, P. Atwal, 2021, Antioxidants.

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling

T. Caulfield, S. Macklin, P. Atwal, 2020, Case reports in genetics.

Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys–Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations

K. Wierenga, T. Caulfield, P. Atwal, 2019, Medicina.

Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family

D. Judge, T. Caulfield, P. Atwal, 2018, Molecular genetics & genomic medicine.

Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema

P. Blackburn, J. Gass, T. Caulfield, 2018, Case reports in genetics.

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

Michael T. Zimmermann, M. Zimmermann, K. Clark, 2019, American journal of medical genetics. Part A.

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

T. Caulfield, Elizabeth A. Mauricio, P. Atwal, 2018, Human Genome Variation.

Expanded phenotype in a patient with spastic paraplegia 7

P. Blackburn, J. Gass, S. Macklin, 2017, Clinical case reports.

The natural history of infantile neuroaxonal dystrophy

F. Alkuraya, M. Salih, P. Atwal, 2019, Orphanet Journal of Rare Diseases.

Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature Review

W. Freeman, M. Pizzi, P. Atwal, 2019, The Neurohospitalist.

A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine

T. Rozen, P. Atwal, A. Ahuja, 2019, BMC Neurology.

19-Year Follow-up of A Patient With Severe Glutathione Synthetase Deficiency

V. Sutton, L. Burrage, P. Atwal, 2016, Journal of Human Genetics.

Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.

V. Sutton, C. Bacino, T. Donti, 2015, Molecular genetics and metabolism.

Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.

W. Craigen, V. Sutton, T. Donti, 2016, JIMD reports.

Late onset asymptomatic pancreatic neuroendocrine tumor – A case report on the phenotypic expansion for MEN1

J. Gass, E. Klee, S. Macklin, 2017, Hereditary Cancer in Clinical Practice.

X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia.

Michael T. Zimmermann, D. Dickson, M. Zimmermann, 2019, Journal of neuropathology and experimental neurology.

Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing

P. Blackburn, E. Klee, Kristin E Clift, 2016, Prion.

Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease

P. Grimm, P. Atwal, C. Macmurdo, 2015, Molecular genetics and metabolism reports.

Novel X‐linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R

L. Hudgins, Alicia A Braxton, R. Person, 2016, American journal of medical genetics. Part A.

Biparental Inheritance of Mitochondrial DNA in Humans

Y. Chien, W. Hwu, L. Wong, 2018, Proceedings of the National Academy of Sciences.

Sex differences in inflammation, redox biology, mitochondria and autoimmunity

Jon Sin, D. Fairweather, P. Atwal, 2020, Redox biology.

Holocarboxylase synthetase deficiency pre and post newborn screening

P. Blackburn, T. Donti, P. Atwal, 2016, Molecular genetics and metabolism reports.

A complex case of delayed diagnosis of ornithine transcarbamylase deficiency in an adult patient with multiple comorbidities

P. Atwal, J. Abbott, Mia Senzatimore, 2022, Molecular genetics and metabolism reports.

Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies

P. Atwal, J. Abbott, Pavalan Selvam, 2022, Molecular Syndromology.

The infantile neuroaxonal dystrophy rating scale (INAD-RS)

D. Adams, P. Atwal, Darius J. Adams, 2020, Orphanet Journal of Rare Diseases.

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement

P. Atwal, S. Hines, K. A. Bruno, 2018, Molecular genetics and metabolism reports.

Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia

T. Caulfield, P. Atwal, S. Hines, 2019, Molecular genetics & genomic medicine.

A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency

P. Blackburn, J. Gass, T. Caulfield, 2017, Molecular genetics & genomic medicine.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

J. Rosenfeld, L. Vissers, H. Peeters, 2021, Genome medicine.

BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer

P. Blackburn, J. Gass, P. Atwal, 2017, Clinical case reports.

Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant.

Z. Wszolek, P. Blackburn, O. Ross, 2018, Neurologia i neurochirurgia polska.

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.

J. Parisi, F. Alkuraya, N. McDonnell, 2018, American journal of human genetics.

A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser

P. Atwal, Ahmed N. Mohammad, 2017, Journal of Pediatric Genetics.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

Treatment of infantile neuroaxonal dystrophy with RT001: A di‐deuterated ethyl ester of linoleic acid: Report of two cases

M. Shchepinov, D. Adams, P. Atwal, 2020, JIMD reports.

Mosaic paternal genome‐wide uniparental isodisomy with down syndrome

P. Atwal, Cathy Angell, R. Wallerstein, 2015, American journal of medical genetics. Part A.

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

R. Nussbaum, K. Ormond, S. Aradhya, 2021, BMC Medicine.

Physician interpretation of variants of uncertain significance

S. Macklin, P. Atwal, S. Hines, 2018, Familial Cancer.

The role of screening MRI in the era of next generation sequencing and moderate-risk genetic mutations

J. Gass, S. Macklin, P. Atwal, 2017, Familial Cancer.

Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm

P. Atwal, H. Helmi, Ahmed N. Mohammad, 2018, Case reports in genetics.

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

L. Vissers, R. Pfundt, R. Pettinato, 2019, European Journal of Human Genetics.

Poirier–Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth

P. Atwal, Pavalan Selvam, A. Cheema, 2020, American journal of medical genetics. Part A.

Impact of integrated translational research on clinical exome sequencing

Michael T. Zimmermann, Gavin R. Oliver, Tammy M. McAllister, 2020, Genetics in Medicine.

Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families

A. Agarwal, P. Atwal, S. Hines, 2018, Human Genome Variation.

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

P. Blackburn, J. Gass, E. Klee, 2018, Molecular genetics & genomic medicine.

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

P. Blackburn, J. Gass, E. Klee, 2017, Molecular genetics & genomic medicine.

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Lisa T. Emrick, Michael F. Wangler, V. Sutton, 2016, Molecular genetics and metabolism reports.

Importance of Family History in the Era of Exome Analysis: A Report of a Family with Multiple Concurrent Genetic Diseases

P. Atwal, J. Abbott, Pavalan Selvam, 2021, Human Heredity.

Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again

Robert A. Ratzlaff, P. Atwal, Christan D. Santos, 2017, Case reports in critical care.

A Report of a Novel Pathogenic Variant in a Family with Buschke–Ollendorf Syndrome

P. Atwal, Pavalan Selvam, H. Atwal, 2019, Journal of Pediatric Genetics.

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma

Jennifer B. McCormick, S. Ekker, N. Giama, 2016, Human mutation.

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics

Michael T. Zimmermann, M. Zimmermann, P. Blackburn, 2016, BMC Medical Genetics.

Supplementary Information for Slone et al. (2019) (PNAS: 201909445) Response to Salas et al. (2019) (bioRxiv: 585752), “Extraordinary claims require extraordinary evidence in the case of asserted mtDNA biparental inheritance.”

Taosheng Huang, P. Atwal, S. Luo, 2019 .

Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient

P. Blackburn, J. Gass, D. Selcen, 2017, Journal of clinical neuromuscular disease.

Prenatally Diagnosed Cases of Binder Phenotype Complicated by Respiratory Distress in the Immediate Postnatal Period

R. Barth, S. Hintz, L. Hudgins, 2016, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Sex differences in comorbidities associated with Sjögren's disease

D. Hodge, S. Lieberman, T. Rozen, 2022, Frontiers in Medicine.

Undiagnosed Partial Ornithine Transcarbamylase Deficiency Presenting Postoperatively as Agitated Delirium

J. Meschia, P. Atwal, E. Goldstein, 2018, The Neurohospitalist.

Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor

P. Blackburn, J. Gass, P. Atwal, 2017, The neurologist.

Human genome meeting 2016

A. Pang, W. Chung, J. Lupski, 2016, Human Genomics.

Application of the community dialogues method to identify ethical values and priorities related to pharmacogenomics.

P. Atwal, H. Atwal, Bernard Esquivel, 2021, Pharmacogenomics.

Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS)

P. Blackburn, J. Gass, K. Sunde, 2016, Molecular genetics and metabolism reports.

Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome

P. Atwal, K. Hruska, R. Torene, 2020, American journal of medical genetics. Part A.

Only 20-25% Deuteration of Polyunsaturated Fatty Acids Prevents Lipid Peroxidation.

P. Atwal, M. Midei, P. Milner, 2020, Trends in Molecular Medicine.

Clinical whole-exome sequencing: are we there yet?

Jonathan A. Bernstein, Gregory M. Enns, Paldeep S. Atwal, 2014, Genetics in Medicine.

Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia

P. Blackburn, J. Gass, J. Burgess, 2017, Clinical case reports.

Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

R. C. Green, R. Nussbaum, K. Ormond, 2021, BMC Medicine.

A Case of Two Repeats: Huntington's Disease and Spinocerebellar Ataxia Type 8

J. Gass, P. Atwal, Nicole J Boczek, 2017, Movement Disorders Clinical Practice.

A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features

P. Atwal, J. Abbott, H. Farres, 2022, American journal of medical genetics. Part A.

A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome

P. Atwal, C. Macmurdo, 2015, Journal of Pediatric Genetics.

Novel Pathogenic Variant in the Cys110 Residue: A Genotype–Phenotype Report of a Patient with Norrie Disease

P. Atwal, H. Atwal, Angita Jain, 2019, Journal of Pediatric Genetics.

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome

Michael T. Zimmermann, M. Zimmermann, P. Blackburn, 2017, Case reports in genetics.

Mutations in the complex III assembly factor tetratricopeptide 19 gene TTC19 are a rare cause of Leigh syndrome

G. Enns, S. Schelley, P. Atwal, 2013 .

Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments

Y. Chien, W. Hwu, L. Wong, 2019, Proceedings of the National Academy of Sciences.

Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy

T. Caulfield, S. Macklin, P. Atwal, 2020, Ophthalmic genetics.

Human genome meeting 2016

Kumar Kshitij Patel, A. Pang, W. Chung, 2016, Human Genomics.

Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature

P. Atwal, Pavalan Selvam, H. Atwal, 2019, Journal of Pediatric Genetics.

A practical approach to adult-onset white matter diseases, with illustrative cases.

Z. Wszolek, W. Freeman, K. A. Vatz, 2020, Neurologia i neurochirurgia polska.

Clinical description & molecular modeling of novel MAX pathogenic variant causing pheochromocytoma in family, supports paternal parent-of-origin effect.

T. Caulfield, P. Atwal, H. Farres, 2021, Cancer genetics.

Functional analysis of the SIM1 variant p.G715V in two patients with obesity.

P. Blackburn, K. Wierenga, M. Whitelaw, 2019, The Journal of clinical endocrinology and metabolism.

Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome.

P. Atwal, 2013, JIMD reports.

Reply to Annis et al.: Is quasi-Mendelian mtDNA competition enough to drive transmission of paternal mtDNA?

Taosheng Huang, P. Atwal, S. Luo, 2019, Proceedings of the National Academy of Sciences.

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

L. Vissers, R. Pfundt, R. Pettinato, 2019, European Journal of Human Genetics.

Novel HIVEP2 Variant p.Q1248* is Associated with Developmental Delay: A Case Report

P. Atwal, Angita Jain, 2019, Journal of Pediatric Genetics.