2025
- Dingle M, Aufox S, Johnson EK, Dungan JS, Clark A, Abihider K, Weisman AG Perspectives on Fetal Sex and Prenatal Diagnosis of Differences of Sex Development Among Midwives. Prenat Diagn 2025 Dec 45 1746-1756
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
- Olayiwola JO, Marhabaie M, Koboldt D, Matthews T, Siemon A, Mouhlas D, Porter T, Kyle G, Myers C, Mei H, Hou YC, Babcock M, Hunter J, Schieffer KM, Akkari Y, Reshmi S, Cottrell C, Mathew MT, Leung ML Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing. Mol Genet Genomic Med 2024 Mar 12 e2349
- 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
- Ross JE, Mohan S, Zhang J, Sullivan MJ, Bury L, Lee K, Futchi I, Frantz A, McDougal D, Perez Botero J, Cattaneo M, Cooper N, Downes K, Gresele P, Keenan C, Lee AI, Megy K, Morange PE, Morgan NV, Schulze H, Zimowski K, Freson K, Lambert MP Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework. J Thromb Haemost 2024 Mar 22 645-665
- 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
- Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran Mau Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder. Brain 2024 Oct 15
- 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
- Stojkic I, Prince BT, Kuehn HS, Gil Silva AA, Varga EA, Rosenzweig SD, Ramadesikan S, Supinger R, Marhabaie M, Chang P, Mardis ER, Koboldt DC A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity. Clin Immunol 2024 Jul 264 110244
- 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
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