Utility of clinical high‐depth next generation sequencing for somatic variant detection in the PIK3CA‐related overgrowth spectrum von Hucthagowder, V., Shenoy, A., Corliss, M., Vigh‐Conrad, K.A., Storer, C., Grange, D.K., Cottrell, C.E.

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Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes von Ware, S M, El-Hassan, N, Kahler, S G, Zhang, Q, Y-W, Miller, E, Wong, B, Spicer, R L, Craigen, W J, Kozel, B A, Grange, D K, Wong, L-J

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response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, ope... von Burton, B. K, Grange, D. K, Milanowski, A, Vockley, G, Feillet, F, Crombez, E. A, Abadie, V, Harding, C. O, Cederbaum, S, Dobbelaere, D, Smith, A, Dorenbaum, A

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Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes von Shinawi, M., Coorg, R., Shimony, J.S., Grange, D.K., Al-Kateb, H.

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De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females von Palmer, E E, Stuhlmann, T, Weinert, S, Haan, E, Van Esch, H, Holvoet, M, Boyle, J, Leffler, M, Raynaud, M, Moraine, C, van Bokhoven, H, Kleefstra, T, Kahrizi, K, Najmabadi, H, Ropers, H-H, Delgado, M R, Sirsi, D, Golla, S, Sommer, A, Pietryga, M P, Chung, W K, Wynn, J, Rohena, L, Bernardo, E, Hamlin, D, Faux, B M, Grange, D K, Manwaring, L, Tolmie, J, Joss, S, Cobben, J M, Duijkers, F A M, Goehringer, J M, Challman, T D, Hennig, F, Fischer, U, Grimme, A, Suckow, V, Musante, L, Nicholl, J, Shaw, M, Lodh, S P, Niu, Z, Rosenfeld, J A, Stankiewicz, P, Jentsch, T J, Gecz, J, Field, M, Kalscheuer, V M

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Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization von Brunetti-Pierri, N, Grange, DK, Ou, Z, Peiffer, DA, Peacock, SKG, Cooper, ML, Eng, PA, Lalani, SR, Chinault, AC, Gunderson, KL, Craigen, WJ, Cheung, S-W

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Bone marrow transplantation for the treatment of α-mannosidosis von Wall, Donna A., Grange, Dorothy K., Goulding, Peggy, Daines, Michael, Luisiri, Atchawee, Kotagal, Suresh

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Mild fumarase deficiency and a trial of low protein diet von Kimonis, V.E., Steller, J., Sahai, I., Grange, D.K., Shoemaker, J., Zelaya, B.M., Mandell, R., Shih, K., Shih, V.

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Two unbalanced translocations involving a common 6p25 region in two XY female patients von Batanian, JR, Grange, DK, Fleming, R, Gadre, B, Wetzel, J

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Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK von Reichenberger, Ernst, Tiziani, Valdenize, Watanabe, Shoji, Park, Lucy, Ueki, Yasuyoshi, Santanna, Carla, Baur, Scott T., Shiang, Rita, Grange, Dorothy K., Beighton, Peter, Gardner, Jessica, Hamersma, Herman, Sellars, Sean, Ramesar, Rajkumar, Lidral, Andrew C., Sommer, Annmarie, Raposo do Amaral, Cassio M., Gorlin, Robert J., Mulliken, John B., Olsen, Bjorn R.

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Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and... von Grange, Dorothy K., Balfour, Ian C., Chen, Su-chiung, Wood, Ellen G.

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TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype von Keaton, A.A., Solomon, B.D., Kauvar, E.F., El-Jaick, K.B., Gropman, A.L., Zafer, Y., Meck, J.M., Bale, S.J., Grange, D.K., Haddad, B.R., Gowans, G.C., Clegg, N.J., Delgado, M.R., Hahn, J.S., Pineda-Alvarez, D.E., Lacbawan, F., Vélez, J.I., Roessler, E., Muenke, M.

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Rehabilitation of children and infants with osteogenesis imperfecta : a program for ambulation von GERBER, L. H, BINDER, H, WEINTROB, J, GRANGE, D. K, SHAPIRO, J, FROMHERZ, W, BERRY, R, CONWAY, A, NASON, S, MARINI, J

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Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions von El-Hattab, Ayman W, Fang, Ping, Jin, Weihong, Hughes, Jeffrey R, Gibson, James B, Patel, Gayle S, Grange, Dorothy K, Manwaring, Linda P, Patel, Ankita, Stankiewicz, Pawel, Cheung, Sau Wai

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Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPP... von Laney, D A, Houde, M F, Foley, A L, Peck, D S, Atherton, A M, Manwaring, L P, Grange, D K, Heese, B A, Holida, M D, Quillin, A L, Vinson, R, Auray-Blais, C, Hopkin, R J

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Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome von Thienpont, Bernard, Béna, Frédérique, Breckpot, Jeroen, Philip, Nicole, Menten, Björn, Van Esch, Hilde, Scalais, Emmanuel, Salamone, Jessica M, Fong, Chin-To, Kussmann, Jennifer L, Grange, Dorothy K, Gorski, Jerome L, Zahir, Farah, Yong, Siu Li, Morris, Michael M, Gimelli, Stefania, Fryns, Jean-Pierre, Mortier, Geert, Friedman, Jan M, Villard, Laurent, Bottani, Armand, Vermeesch, Joris R, Cheung, Sau Wai, Devriendt, Koen

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Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 do... von Longo, Nicola, MD, Harding, Cary O, MD, Burton, Barbara K, MD, Grange, Dorothy K, MD, Vockley, Jerry, MD, Wasserstein, Melissa, MD, Rice, Gregory M, MD, Dorenbaum, Alejandro, MD, Neuenburg, Jutta K, MD, Musson, Donald G, PhD, Gu, Zhonghua, PhD, Sile, Saba, MD

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Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis von Marini, J C, Grange, D K, Gottesman, G S, Lewis, M B, Koeplin, D A

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Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations von Johnston, Jennifer J., Olivos-Glander, Isabelle, Killoran, Christina, Elson, Emma, Turner, Joyce T., Peters, Kathryn F., Abbott, Margaret H., Aughton, David J., Aylsworth, Arthur S., Bamshad, Michael J., Booth, Carol, Curry, Cynthia J., David, Albert, Dinulos, Mary Beth, Flannery, David B., Fox, Michelle A., Graham, John M., Grange, Dorothy K., Guttmacher, Alan E., Hannibal, Mark C., Henn, Wolfram, Hennekam, RaoulC.M., Holmes, Lewis B., Hoyme, H. Eugene, Leppig, Kathleen A., Lin, Angela E., MacLeod, Patrick, Manchester, David K., Marcelis, Carlo, Mazzanti, Laura, McCann, Emma, McDonald, Marie T., Mendelsohn, Nancy J., Moeschler, John B., Moghaddam, Billur, Neri, Giovanni, Newbury-Ecob, Ruth, Pagon, Roberta A., Phillips III, John A., Sadler, Laurie S., Stoler, Joan M., Tilstra, David, Walsh Vockley, Catherine M., Zackai, Elaine H., Zadeh, Touran M., Brueton, Louise, Black, Graeme Charles M., Biesecker, Leslie G.

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Detection of point mutations in type I collagen by RNase digestion of RNA/RNA hybrids von GRANGE, D. K, GOTTESMAN, G. S, LEWIS, M. B, MARINI, J. C

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