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

Jain A, Atwal PS.

J Pediatr Genet. 2019 Sep;8(3):157-159. doi: 10.1055/s-0039-1683973. Epub 2019 Mar 25.


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

Slone J, Luo S, Atwal PS, Huang T.

Proc Natl Acad Sci U S A. 2019 Jul 23;116(30):14799-14800. doi: 10.1073/pnas.1909445116. Epub 2019 Jul 16. No abstract available.


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

Gupta A, Zimmermann MT, Wang H, Broski SM, Sigafoos AN, Macklin SK, Urrutia RA, Clark KJ, Atwal PS, Pignolo RJ, Klee EW.

Am J Med Genet A. 2019 Sep;179(9):1764-1777. doi: 10.1002/ajmg.a.61274. Epub 2019 Jun 26.


Expansion of the clinical spectrum associated with AARS2-related disorders.

Srivastava S, Butala A, Mahida S, Richter J, Mu W, Poretti A, Vernon H, VanGerpen J, Atwal PS, Middlebrooks EH, Zee DS, Naidu S.

Am J Med Genet A. 2019 Aug;179(8):1556-1564. doi: 10.1002/ajmg.a.61188. Epub 2019 May 17.


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

Richter JE Jr, Samreen A, Vadlamudi C, Helmi H, Mohammad AN, Wierenga K, Hines S, Atwal PS, Caulfield TR.

Medicina (Kaunas). 2019 May 15;55(5). pii: E137. doi: 10.3390/medicina55050137.


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

Blackburn PR, Lin WL, Miller DA, Lorenzo-Betancor O, Edwards ES, Zimmermann MT, Farrugia LP, Freeman WD, Soto AI, Walton RL, Klee EW, Atwal PS, Abraham RS, Billadeau DD, Ross OA, Dickson DW, Meschia JF.

J Neuropathol Exp Neurol. 2019 May 1;78(5):460-466. doi: 10.1093/jnen/nlz018.


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

Hines SL, Richter JE Jr, Mohammad AN, Mahim J, Atwal PS, Caulfield TR.

Mol Genet Genomic Med. 2019 Mar;7(3):e566. doi: 10.1002/mgg3.566. Epub 2019 Jan 28.


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

Jansen S, van der Werf IM, Innes AM, Afenjar A, Agrawal PB, Anderson IJ, Atwal PS, van Binsbergen E, van den Boogaard MJ, Castiglia L, Coban-Akdemir ZH, van Dijck A, Doummar D, van Eerde AM, van Essen AJ, van Gassen KL, Guillen Sacoto MJ, van Haelst MM, Iossifov I, Jackson JL, Judd E, Kaiwar C, Keren B, Klee EW, Klein Wassink-Ruiter JS, Meuwissen ME, Monaghan KG, de Munnik SA, Nava C, Ockeloen CW, Pettinato R, Racher H, Rinne T, Romano C, Sanders VR, Schnur RE, Smeets EJ, Stegmann APA, Stray-Pedersen A, Sweetser DA, Terhal PA, Tveten K, VanNoy GE, de Vries PF, Waxler JL, Willing M, Pfundt R, Veltman JA, Kooy RF, Vissers LELM, de Vries BBA.

Eur J Hum Genet. 2019 May;27(5):738-746. doi: 10.1038/s41431-018-0292-2. Epub 2019 Jan 24.


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

Luo S, Valencia CA, Zhang J, Lee NC, Slone J, Gui B, Wang X, Li Z, Dell S, Brown J, Chen SM, Chien YH, Hwu WL, Fan PC, Wong LJ, Atwal PS, Huang T.

Proc Natl Acad Sci U S A. 2019 Feb 5;116(6):1823-1824. doi: 10.1073/pnas.1821357116. Epub 2019 Jan 23. No abstract available.


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

Pizzi MA, Alejos D, Hasan TF, Atwal PS, Krishnaiengar SR, Freeman WD.

Neurohospitalist. 2019 Jan;9(1):30-36. doi: 10.1177/1941874418764817. Epub 2018 Mar 26.


Biparental Inheritance of Mitochondrial DNA in Humans.

Luo S, Valencia CA, Zhang J, Lee NC, Slone J, Gui B, Wang X, Li Z, Dell S, Brown J, Chen SM, Chien YH, Hwu WL, Fan PC, Wong LJ, Atwal PS, Huang T.

Proc Natl Acad Sci U S A. 2018 Dec 18;115(51):13039-13044. doi: 10.1073/pnas.1810946115. Epub 2018 Nov 26.


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

Richter JE Jr, Zimmermann MT, Blackburn PR, Mohammad AN, Klee EW, Pollard LM, Macmurdo CF, Atwal PS, Caulfield TR.

Mol Genet Genomic Med. 2018 Nov;6(6):1229-1235. doi: 10.1002/mgg3.454. Epub 2018 Sep 5.


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

Hines SL, Agarwal A, Ghandour M, Aslam N, Mohammad AN, Atwal PS.

Hum Genome Var. 2018 Aug 28;5:24. doi: 10.1038/s41439-018-0025-7. eCollection 2018.


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

Macklin S, Mohammed A, Jackson J, Hines SL, Atwal PS, Caulfield T.

Mol Genet Genomic Med. 2018 Sep;6(5):805-810. doi: 10.1002/mgg3.447. Epub 2018 Jul 24.


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

Mohammad AN, Bruno KA, Hines S, Atwal PS.

Mol Genet Metab Rep. 2018 Jan 12;15:11-14. doi: 10.1016/j.ymgmr.2017.12.005. eCollection 2018 Jun.


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

Hines SL, Agarwal A, Ghandour M, Aslam N, Mohammad AN, Atwal PS.

Hum Genome Var. 2018 Jul 10;5:15. doi: 10.1038/s41439-018-0016-8. eCollection 2018. Erratum in: Hum Genome Var. 2018 Aug 28;5:24.


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

Mohammad A, Helmi H, Atwal PS.

Case Rep Genet. 2018 Mar 29;2018:6780494. doi: 10.1155/2018/6780494. eCollection 2018.


Physician interpretation of variants of uncertain significance.

Macklin SK, Jackson JL, Atwal PS, Hines SL.

Fam Cancer. 2019 Jan;18(1):121-126. doi: 10.1007/s10689-018-0086-2.


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

Mohammad AN, Atwal PS.

J Pediatr Genet. 2018 Jun;7(2):83-85. doi: 10.1055/s-0037-1612592. Epub 2017 Dec 8.


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

Caulfield TR, Richter JE Jr, Brown EE, Mohammad AN, Judge DP, Atwal PS.

Mol Genet Genomic Med. 2018 Apr 26. doi: 10.1002/mgg3.401. [Epub ahead of print]


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

Harris AL, Blackburn PR, Richter JE Jr, Gass JM, Caulfield TR, Mohammad AN, Atwal PS.

Case Rep Genet. 2018 Feb 22;2018:6968395. doi: 10.1155/2018/6968395. eCollection 2018.


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

Konno T, Blackburn PR, Rozen TD, van Gerpen JA, Ross OA, Atwal PS, Wszolek ZK.

Neurol Neurochir Pol. 2018 May - Jun;52(3):386-389. doi: 10.1016/j.pjnns.2018.03.007. Epub 2018 Apr 11.


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

Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R.

J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. doi: 10.1681/ASN.2017111179. Epub 2018 Apr 13.


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.

Richter JE, Robles HG, Mauricio E, Mohammad A, Atwal PS, Caulfield TR.

Hum Genome Var. 2018 Apr 5;5:18016. doi: 10.1038/hgv.2018.16. eCollection 2018.


Undiagnosed Partial Ornithine Transcarbamylase Deficiency Presenting Postoperatively as Agitated Delirium.

Goldstein ED, Cannistraro R, Atwal PS, Meschia JF.

Neurohospitalist. 2018 Apr;8(2):82-85. doi: 10.1177/1941874417729983. Epub 2017 Sep 12.


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

Blackburn PR, Xu Z, Tumelty KE, Zhao RW, Monis WJ, Harris KG, Gass JM, Cousin MA, Boczek NJ, Mitkov MV, Cappel MA, Francomano CA, Parisi JE, Klee EW, Faqeih E, Alkuraya FS, Layne MD, McDonnell NB, Atwal PS.

Am J Hum Genet. 2018 Apr 5;102(4):696-705. doi: 10.1016/j.ajhg.2018.02.018. Epub 2018 Mar 29.


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

DeMeo NN, Burgess JD, Blackburn PR, Gass JM, Richter J, Atwal HK, van Gerpen JA, Atwal PS.

Clin Case Rep. 2017 Nov 20;6(1):8-13. doi: 10.1002/ccr3.1265. eCollection 2018 Jan.


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

Santos CD, Ratzlaff RA, Meder JC, Atwal PS, Joyce NE.

Case Rep Crit Care. 2017;2017:8724810. doi: 10.1155/2017/8724810. Epub 2017 Nov 27.


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

Lara-Velazquez M, Perdomo-Pantoja A, Blackburn PR, Gass JM, Caulfield TR, Atwal PS.

Mol Genet Genomic Med. 2017 Nov;5(6):781-787. doi: 10.1002/mgg3.322. Epub 2017 Jul 20.


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

Garcia S, Schuh M, Cheema A, Atwal H, Atwal PS.

Case Rep Genet. 2017;2017:6236714. doi: 10.1155/2017/6236714. Epub 2017 Oct 16.


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

Gass JM, Cheema A, Jackson J, Blackburn PR, Van Gerpen J, Atwal PS.

Neurologist. 2017 Nov;22(6):247-248. doi: 10.1097/NRL.0000000000000153.


Expanded phenotype in a patient with spastic paraplegia 7.

Gass J, Blackburn PR, Jackson J, Macklin S, van Gerpen J, Atwal PS.

Clin Case Rep. 2017 Aug 24;5(10):1620-1622. doi: 10.1002/ccr3.1109. eCollection 2017 Oct.


Maple syrup urine disease: mechanisms and management.

Blackburn PR, Gass JM, Vairo FPE, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS.

Appl Clin Genet. 2017 Sep 6;10:57-66. doi: 10.2147/TACG.S125962. eCollection 2017. Review.


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

Kaiwar C, Macklin SK, Gass JM, Jackson J, Klee EW, Hines SL, Stauffer JA, Atwal PS.

Hered Cancer Clin Pract. 2017 Jul 21;15:10. doi: 10.1186/s13053-017-0070-0. eCollection 2017.


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

Macklin S, Gass J, Mitri G, Atwal PS, Hines S.

Fam Cancer. 2018 Jan;17(1):167-173. doi: 10.1007/s10689-017-0007-9. Review.


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

Blackburn PR, Selcen D, Gass JM, Jackson JL, Macklin S, Cousin MA, Boczek NJ, Klee EW, Dimberg EL, Kennelly KD, Atwal PS.

Mol Genet Genomic Med. 2017 Mar 30;5(3):295-302. doi: 10.1002/mgg3.280. eCollection 2017 May. Erratum in: Mol Genet Genomic Med. 2018 May;6(3):469.


The clinical heterogeneity of late-onset MELAS.

Atwal HK, Gass J, Blackburn PR, Atwal PS.

Mol Genet Metab Rep. 2017 Apr 15;11:30. doi: 10.1016/j.ymgmr.2017.04.003. eCollection 2017 Jun. No abstract available.


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

Gass J, Jackson J, Macklin S, Blackburn P, Hines S, Atwal PS.

Fam Cancer. 2017 Oct;16(4):551-553. doi: 10.1007/s10689-017-9982-0.


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

Gass J, Tatro M, Blackburn P, Hines S, Atwal PS.

Clin Case Rep. 2017 Jan 4;5(2):104-107. doi: 10.1002/ccr3.793. eCollection 2017 Feb.


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

Zimmermann MT, Urrutia RA, Blackburn PR, Cousin MA, Boczek NJ, Klee EW, Macmurdo C, Atwal PS.

Case Rep Genet. 2017;2017:7263780. doi: 10.1155/2017/7263780. Epub 2017 Jan 9.


Late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS), defining symptomology.

Gass J, Atwal HK, Atwal PS.

Mol Genet Metab Rep. 2017 Jan 11;10:51. doi: 10.1016/j.ymgmr.2017.01.001. eCollection 2017 Mar. No abstract available.


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

Blackburn PR, Zimmermann MT, Gass JM, Harris KG, Cousin MA, Boczek NJ, Ross OA, Klee EW, Brazis PW, Van Gerpen JA, Atwal PS.

BMC Med Genet. 2016 Dec 5;17(1):93.


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

Cappuccio G, Atwal PS, Donti TR, Ugarte K, Merchant N, Craigen WJ, Sutton VR, Elsea SH.

JIMD Rep. 2017;35:33-37. doi: 10.1007/8904_2016_21. Epub 2016 Nov 30.


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

Sunde K, Blackburn PR, Cheema A, Gass J, Jackson J, Macklin S, Atwal PS.

Mol Genet Metab Rep. 2016 Nov 18;9:94-97. eCollection 2016 Dec.


Early-onset limb-girdle muscular dystrophy-2L in a female athlete.

Blackburn PR, Selcen D, Jackson JL, Guthrie KJ, Cousin MA, Boczek NJ, Clift KE, Klee EW, Dimberg EL, Atwal PS.

Muscle Nerve. 2017 May;55(5):E19-E21. doi: 10.1002/mus.25471. Epub 2017 Feb 23. No abstract available.


A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18.

Atwal PS.

J Pediatr Genet. 2015 Dec;4(4):207-8. doi: 10.1055/s-0035-1565266. Epub 2015 Oct 14.


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

Atwal PS, Macmurdo C.

J Pediatr Genet. 2015 Dec;4(4):201-3. doi: 10.1055/s-0035-1565267. Epub 2015 Oct 14.


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

Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH.

Mol Genet Metab Rep. 2016 Jul 27;8:61-6. doi: 10.1016/j.ymgmr.2016.07.007. eCollection 2016 Sep.


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

Gass JM, McKay J, Guthrie KJ, Boczek N, Atwal PS, Van Gerpen J.

Mov Disord Clin Pract. 2016 Jul 23;4(2):270-272. doi: 10.1002/mdc3.12401. eCollection 2017 Mar-Apr. No abstract available.


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

Blackburn PR, Hickey RD, Nace RA, Giama NH, Kraft DL, Bordner AJ, Chaiteerakij R, McCormick JB, Radulovic M, Graham RP, Torbenson MS, Tortorelli S, Scott CR, Lindor NM, Milliner DS, Oglesbee D, Al-Qabandi W, Grompe M, Gavrilov DK, El-Youssef M, Clark KJ, Atwal PS, Roberts LR, Klee EW, Ekker SC.

Hum Mutat. 2016 Oct;37(10):1097-105. doi: 10.1002/humu.23047. Epub 2016 Aug 8.

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