Team Publications

2024

  • Aldrian D, Waldner B, Vogel GF, El-Gharbawy AH, McKiernan P, Vockley J, Landau YE, Al Mutairi F, Stepien KM, Kwok AM, Yildiz Y, Honzik T, Kelifova S, Ellaway C, Lund AM, Mori M, Grünert SC, Scholl-Bürgi S, Zöggeler T, Oberhuber R, Schneeberger S, Müller T, Karall D Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency. J Inherit Metab Dis 2024 Feb 20
  • Antoniou AA, McGinley R, Metzler M, Chaudhari BP NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates. medRxiv 2024 Jun 25
  • Antoniou AA, McGinley R, Metzler M, Chaudhari BP NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates. medRxiv 2024 Jun 25
  • Boechler M, Fu YP, Raja N, Ruiz-Escobar E, Nimmagadda L, Osgood S, Levin MD, Hadigan C, Kozel BA Gastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort. Am J Med Genet A 2024 Jul 29 e63827
  • Callahan KP, Clayton EW, Lemke AA, Chaudhari BP, Wenger TL, Lyle ANJ, Brothers KB Ethical and Legal Issues Surrounding Genetic Testing in the NICU. Neoreviews 2024 Mar 1 25 e127-e138
  • Cathey BM, Bellach A, Troendle J, Smith K, Osgood S, Raja N, Kozel BA, Levin MD Increased Heart Rate Fragmentation in Those with Williams-Beuren Syndrome Suggests Non-autonomic Mechanistic Contributors to Sudden Death Risk. Am J Physiol Heart Circ Physiol 2024 Jun 21
  • De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, Stojkovic T, Hackman P, Johari M, Palmio J, Waldrop MA, Meyer AP, Nicolau S, Flanigan KM, Töpf A, Diaz-Manera J, Straub V, Longman C, McWilliam CA, Orbach R, Verma S, Laine R, Donkervoort S, Bonnemann CG, Rebelo A, Züchner S, Grider T, Shy ME, Maystadt I, Demurger F, Cairns A, Beecroft S, Folland C, De Ridder W, Ravenscroft G, Bonne G, Udd B, Baets J Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features. medRxiv 2024 Sep 24
  • Dharmadhikari AV, Abad MA, Khan S, Maroofian R, Sands TT, Ullah F, Samejima I, Wear MA, Moore KE, Kondakova E, Mitina N, Schaub T, Lee GK, Umandap CH, Berger SM, Iglesias AD, Popp B, Jamra RA, Gabriel H, Rentas S, Rippert AL, Izumi K, Conlin LK, Koboldt DC, Mosher TM, Hickey SE, Albert DVF, Norwood H, Lewanda AF, Dai H, Liu P, Mitani T, Marafi D, Pehlivan D, Posey JE, Lippa N, Vena N, Heinzen EL, Goldstein DB, Mignot C, de Sainte Agathe JM, Al-Sannaa NA, Zamani M, Sadeghian S, Azizimalamiri R, Seifia T, Zaki MS, Abdel-Salam GMH, Abdel-Hamid M, Alabdi L, Alkuraya FS, Dawoud H, Lofty A, Bauer P, Zifarelli G, Afzal E, Zafar F, Efthymiou S, Gossett D, Towne MC, Yeneabat R, Wontakal SN, Aggarwal VS, Rosenfeld JA, Tarabykin V, Ohta S, Lupski JR, Houlden H, Earnshaw WC, Davis EE, Jeyaprakash AA, Liao J RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS. medRxiv 2024 Jan 9
  • Justice A, Kelly MA, Bellus G, Green JD, Zaidi R, Kerrins T, Josyula N, Luperchio TR, Kozel BA, Williams MS Phenotypic Findings Associated with Variation in Elastin. HGG Adv 2024 Nov 26 100388
  • Liu D, Billington CJ Jr, Raja N, Wong ZC, Levin MD, Resch W, Alba C, Hupalo DN, Biamino E, Bedeschi MF, Digilio MC, Squeo GM, Villa R, Parrish PCR, Knutsen RH, Osgood S, Freeman JA, Dalgard CL, Merla G, Pober BR, Mervis CB, Roberts AE, Morris CA, Osborne LR, Kozel BA Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome. J Am Heart Assoc 2024 Feb 6 13 e031377
  • McGrath SP, Kozel BA, Gracefo S, Sutherland N, Danford CJ, Walton N A comparative evaluation of ChatGPT 3.5 and ChatGPT 4 in responses to selected genetics questions. J Am Med Inform Assoc 2024 Jun 14
  • Meyer AP, Connolly AM, Vannatta K, Hacker N, Hatfield A, Decipeda A, Parker P, Willoughby A, Waldrop MA Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy. J Neuromuscul Dis 2024 11 129-142
  • Owlett LD, Zapanta B, Sandkuhler SE, Ames EG, Hickey SE, Mackenzie SJ, Meisner JK Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome. Am J Med Genet A 2024 Jun 3 e63778
  • Pai C, McIntosh BA, Knutsen RH, Levin MD, Tsang KM, Kozel BA, Heuckeroth RO Loss of Baz1b in mice causes perinatal lethality, growth failure, and variable multi-system outcomes. Dev Biol 2024 Jan 505 42-57
  • Romay MC, Knutsen RH, Ma F, Mompeón A, Hernandez GE, Salvador J, Mirkov S, Batra A, Sullivan DP, Procissi D, Buchanan S, Kronquist E, Ferrante EA, Muller WA, Walshon J, Steffens A, McCortney K, Horbinski C, Tournier-Lasserve E, Sonabend AM, Sorond FA, Wang MM, Boehm M, Kozel BA, Iruela-Arispe ML Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice. J Clin Invest 2024 Jan 16 134
  • Schuetz RJ, Ceyhan D, Antoniou AA, Chaudhari BP, White P CNVoyant a machine learning framework for accurate and explainable copy number variant classification. Sci Rep 2024 Sep 28 14 22411
  • Schuetz RJ, Ceyhan D, Antoniou AA, Chaudhari BP, White P CNVoyant: A Highly Performant and Explainable Multi-Classifier Machine Learning Approach for Determining the Clinical Significance of Copy Number Variants. Res Sq 2024 Apr 30
  • Showpnil IA, E Hernandez Gonzalez M, Ramadesikan S, Marhabaie M, Daley A, Dublin-Ryan L, Pastore MT, Gurusamy U, Hunter JM, Stone BS, Bartholomew DW, Manickam K, Miller AR, Wilson RK, Stottmann RW, Koboldt DC Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes. NPJ Genom Med 2024 Dec 18 9 66
  • Stephens SB, Novy T, Spurzem GN, Jacob B, Beecroft T, Soludczyk E, Kozel BA, Weigand J, Morris SA Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome. J Am Heart Assoc 2024 Apr 16 13 e034048
  • Verma A, Lehman AN, Gokcan H, Cropcho L, Black D, Dobrowolski SF, Vockley J, Bedoyan JK Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism. Mol Genet Genomic Med 2024 Jan 12 e2283

2023

  • Abu-El-Haija A, Reddi HV, Wand H, Rose NC, Mori M, Qian E, Murray MF, ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2023 Mar 10 100803
  • Armstrong V, Backes CH, Rivera BK, Reo RM, Chaudhari BP, Wethall A, Truxal KV An Infant with Thickened and Hyperechoic Main Pulmonary Artery. Neoreviews 2023 Dec 1 24 e814-e818
  • Armstrong V, Backes CH, Rivera BK, Reo RM, Chaudhari BP, Wethall A, Truxal KV An Infant with Thickened and Hyperechoic Main Pulmonary Artery. Neoreviews 2023 Dec 1 24 e814-e818
  • Dash CA, Madden JA, Cummings C, Rose M, Wilson SD, Mori M, Agrawal PB, Chaudhari BP, Wojcik MH Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure. Cold Spring Harb Mol Case Stud 2023 Jun 9
  • Dash CA, Madden JA, Cummings C, Rose M, Wilson SD, Mori M, Agrawal PB, Chaudhari BP, Wojcik MH Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure. Cold Spring Harb Mol Case Stud 2023 Jun 9
  • de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A ARF1-related disorder: phenotypic and molecular spectrum. J Med Genet 2023 Oct 60 999-1005
  • Hamvas A, Chaudhari BP, Nogee LM Genetic testing for diffuse lung diseases in children. Pediatr Pulmonol 2023 May 16
  • Huryn LA, Flaherty T, Nolen R, Prasov L, Zein WM, Cukras CA, Osgood S, Raja N, Levin MD, Vitale S, Brooks BP, Hufnagel RB, Kozel BA Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome. Br J Ophthalmol 2023 Oct 107 1554-1559
  • Levin MD, Cathey BM, Smith K, Osgood S, Raja N, Fu YP, Kozel BA Heart Rate Variability Analysis May Identify Individuals With Williams-Beuren Syndrome at Risk of Sudden Death. JACC Clin Electrophysiol 2023 Mar 9 359-370
  • Mah-Som AY, Daw J, Huynh D, Wu M, Creekmore BC, Burns W, Skinner SA, Holla ØL, Smeland MF, Planes M, Uguen K, Redon S, Bierhals T, Scholz T, Denecke J, Mensah MA, Sczakiel HL, Tichy H, Verheyen S, Blatterer J, Schreiner E, Thies J, Lam C, Spaeth CG, Pena L, Ramsey K, Narayanan V, Seaver LH, Rodriguez D, Afenjar A, Burglen L, Lee EB, Chou TF, Weihl CC, Shinawi MS An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP. Am J Hum Genet 2023 Nov 2 110 1959-1975
  • Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Ghayoor Karimiani E, Efthymiou S, Yesil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Sheraz K, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Dilruba AA, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain 2023 Jul 30
  • Metzler M, Burns W, Mitchell C, Napolitano S, Chaudhari BP A case report of necrotizing enterocolitis in a moderately preterm neonate with LCHADD-A call to focus on the basics while utilizing advanced new therapies. Front Pediatr 2023 11 1081802
  • Metzler M, Burns W, Mitchell C, Napolitano S, Chaudhari BP A case report of necrotizing enterocolitis in a moderately preterm neonate with LCHADD-A call to focus on the basics while utilizing advanced new therapies. Front Pediatr 2023 11 1081802
  • Meyer AP, Barnett CL, Myers K, Siskind CE, Moscarello T, Logan R, Roggenbuck J, Rich KA Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study. J Med Genet 2023 Nov 29
  • Meyer AP, Ma J, Brock G, Hashimoto S, Cottrell CE, Mathew M, Hunter JM, Leung ML, Corsmeier D, Jayaraman V, Waldrop MA, Flanigan KM Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions. Muscle Nerve 2023 Oct 3
  • Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development. J Clin Immunol 2023 Feb 43 247-270
  • Pinard A, Ye W, Fraser SM, Rosenfeld JA, Pichurin P, Hickey SE, Guo D, Cecchi AC, Boerio ML, Guey S, Aloui C, Lee K, Kraemer M, Alyemni SO, University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Tournier-Lasserve E, Haider S, Jin SC, Smith ER, Kahle KT, Jan LY, He M, Milewicz DM Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease. Brain 2023 May 30
  • Waldrop MA, Chagat S, Storey M, Meyer A, Iammarino M, Reash N, Alfano L, Lowes L, Noritz G, Prochoroff A, Rossman I, Ginsberg M, Mosher K, Broomall E, Bass N, Gushue C, Kotha K, Paul G, Shell R, Tsao CY, Mendell JR, Connolly AM Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio. Neuromuscul Disord 2023 Dec 2 34 41-48
  • Walton N, Gracefo S, Sutherland N, Kozel BA, Danford CJ, McGrath SP Evaluating ChatGPT as an Agent for Providing Genetic Education. bioRxiv 2023 Oct 29
  • Wojcik MH, Callahan KP, Antoniou A, Del Rosario MC, Brunelli L, ElHassan NO, Gogcu S, Murthy K, Rumpel JA, Wambach JA, Suhrie K, Fishler K, Chaudhari BP Provision and Availability of Genomic Medicine Services in Level IV Neonatal Intensive Care Units. Genet Med 2023 Jul 6 100926
  • Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. Am J Med Genet A 2023 Jul 191 1900-1910

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