The Truncated Burr X-G Family of Distributions: Properties and Applications to Actuarial and Financial Data.

Bantan RAR, Chesneau C, Jamal F, Elbatal I, Elgarhy M

Amyloidosis with Cardiac Involvement: Identification, Characterization, and Management.

Jamal F, Rosenzweig M

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.

Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH, Undiagnosed Diseases Network, Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP

Novel case of Parkinson's disease and schizophrenia: challenges in the management.

Ramzan A, Aggarwal R, Jamal F

Systemic Sarcoidosis With Cardiac Involvement Resembling Lymphoma on Imaging: Case Journey From Scrotum to Heart.

Jamal F, Saud Khan M, Yang J, Steigner ML, Keraliya A, Aghayev A

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.

Cope H, Barseghyan H, Bhattacharya S, Fu Y, Hoppman N, Marcou C, Walley N, Rehder C, Deak K, Alkelai A, Undiagnosed Diseases Network, Vilain E, Shashi V

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.

Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, ZĂźchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ, Undiagnosed Diseases Network, Sunyaev SR, Kohane IS

Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.

Sturrock BRH, Macnamara EF, McGuire P, Kruk S, Yang I, Murphy J, Undiagnosed Diseases Network, Tifft CJ, Gordon-Lipkin E

Beyond the Sin-G family: The transformed Sin-G family.

Jamal F, Chesneau C, Bouali DL, Ul Hassan M

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.

Baldridge D, Wangler MF, Bowman AN, Yamamoto S, Undiagnosed Diseases Network, Schedl T, Pak SC, Postlethwait JH, Shin J, Solnica-Krezel L, Bellen HJ, Westerfield M

A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.

Kyle JE, Stratton KG, Zink EM, Kim YM, Bloodsworth KJ, Monroe ME, Undiagnosed Diseases Network, Waters KM, Webb-Robertson BM, Koeller DM, Metz TO

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L, Undiagnosed Diseases Network, Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM

Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice.

Studwell CM, Glanton E, Undiagnosed Diseases Network, Sinsheimer JS, Palmer CGS, LeBlanc K

Insights Into the Role of CircRNAs: Biogenesis, Characterization, Functional, and Clinical Impact in Human Malignancies.

Nisar S, Bhat AA, Singh M, Karedath T, Rizwan A, Hashem S, Bagga P, Reddy R, Jamal F, Uddin S, Chand G, Bedognetti D, El-Rifai W, Frenneaux MP, Macha MA, Ahmed I, Haris M

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.

Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT, Undiagnosed Diseases Network, Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V